Abstract is: James Francis Gusella (born 1952 in Ottawa) is a Canadian molecular biologist and geneticist, also known as "Lucky Jim". He is professor of neurogenetics and director of the Center for Neurofibromatosis and Allied Disorders at Harvard Medical School, and director of the Center for Human Genetic Research at Massachusetts General Hospital.
| human | Q5 |
| P2163 | FAST ID | 207981 |
| P2671 | Google Knowledge Graph ID | /g/120kg_qg |
| P213 | ISNI | 0000000027618151 |
| P244 | Library of Congress authority ID | n87131933 |
| P4012 | Semantic Scholar author ID | 3307520 |
| P214 | VIAF ID | 70441148 |
| P10832 | WorldCat Entities ID | E39PBJd88g788DrKR6KQJwDyVC |
| P166 | award received | Neuronal Plasticity Prize | Q1266070 |
| ASHG Lifetime Achievement Award | Q3405402 | ||
| King Faisal International Prize in Medicine | Q30868915 | ||
| J. Allyn Taylor International Prize in Medicine | Q56072830 | ||
| Metlife Foundation Award for Medical Research in Alzheimer's Disease | Q56823384 | ||
| Dana Award for Pioneering Achievement in Health and Education | Q57417013 | ||
| P27 | country of citizenship | Canada | Q16 |
| P734 | family name | Gusella | Q60429738 |
| Gusella | Q60429738 | ||
| Gusella | Q60429738 | ||
| P101 | field of work | Huntington's disease | Q190564 |
| P735 | given name | James | Q677191 |
| James | Q677191 | ||
| P106 | occupation | researcher | Q1650915 |
| geneticist | Q3126128 | ||
| molecular biologist | Q15839206 | ||
| P21 | sex or gender | male | Q6581097 |
| Q42044466 | 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling |
| Q67482093 | A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy |
| Q34168116 | A DNA polymorphism for Huntington's disease marks the future |
| Q40544675 | A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. |
| Q28117797 | A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal |
| Q36060885 | A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology |
| Q43481678 | A RsaI polymorphism in the ERCC2 locus |
| Q71230101 | A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group |
| Q37717619 | A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome |
| Q48176091 | A dinucleotide repeat polymorphism at the D4S127 locus |
| Q52511818 | A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. |
| Q45292433 | A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. |
| Q70255271 | A genetic linkage map of chromosome 17 |
| Q35199346 | A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age |
| Q30741023 | A genetic linkage map of human chromosome 9q |
| Q45289744 | A genetic linkage map of the chromosome 4 short arm. |
| Q35551356 | A genetic linkage map of the long arm of human chromosome 22. |
| Q30622482 | A genetic map of chromosome 1: comparison of different data sets and linkage programs |
| Q30448206 | A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. |
| Q44685044 | A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study |
| Q72617849 | A high-resolution linkage map of human 9q34.1. |
| Q30396975 | A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas |
| Q35990850 | A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect |
| Q33931702 | A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21. |
| Q45289777 | A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families |
| Q28271038 | A locus for cerebral cavernous malformations maps to chromosome 7q in two families |
| Q49962235 | A modifier of Huntington's disease onset at the MLH1 locus |
| Q39486420 | A molecular genetic approach to Huntington's disease |
| Q43611854 | A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene |
| Q40418350 | A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. |
| Q33543359 | A novel approach to investigate tissue-specific trinucleotide repeat instability |
| Q52582616 | A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. |
| Q42148970 | A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene |
| Q47137937 | A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene |
| Q34255139 | A polymorphic DNA marker genetically linked to Huntington's disease |
| Q64896125 | A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. |
| Q35195719 | A recombination event that redefines the Huntington disease region |
| Q53409005 | A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. |
| Q77670013 | A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription |
| Q45296866 | A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene |
| Q40372189 | A tiger behind many doors: multiple genetic pathways to malignant glioma |
| Q33839565 | A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene |
| Q72851799 | Accumulation of wild type p53 protein in human astrocytomas |
| Q45297879 | Accuracy of testing for Huntington's disease |
| Q34035897 | Advances in neurofibromatosis 2 (NF2): a workshop report |
| Q50346562 | Age- and gender-dependent obesity in individuals with 16p11.2 deletion |
| Q77885035 | Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis |
| Q48349302 | Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus |
| Q45298596 | Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins |
| Q53186634 | Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. |
| Q67982151 | An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus |
| Q36231696 | An ancient founder mutation in PROKR2 impairs human reproduction |
| Q47073933 | An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin |
| Q34374308 | An expression-independent catalog of genes from human chromosome 22. |
| Q60623921 | An improved approach to prepare human brains for research |
| Q35195141 | An index marker map of chromosome 9 provides strong evidence for positive interference |
| Q33815561 | An ovine transgenic Huntington's disease model |
| Q45297179 | Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism |
| Q37806717 | Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products |
| Q54040683 | Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease. |
| Q34346357 | Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas |
| Q30498859 | Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma |
| Q45290009 | Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease |
| Q53201984 | Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases. |
| Q45305817 | Application of recombinant DNA techniques to neurogenetic disorders |
| Q42176126 | Assessing Population Level Genetic Instability via Moving Average |
| Q35286605 | Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder |
| Q36310179 | Assessment of cortical and striatal involvement in 523 Huntington disease brains |
| Q57319205 | Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage |
| Q74595990 | Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR |
| Q28264205 | Association between microdeletion and microduplication at 16p11.2 and autism |
| Q37196700 | Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants |
| Q29614952 | Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease |
| Q39033828 | Association of the long QT syndrome With goiter and deafness |
| Q57319192 | Authors' response to commentaries |
| Q38194906 | Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes |
| Q47958150 | BDNF, relative preference, and reward circuitry responses to emotional communication |
| Q40524301 | BanI polymorphism at the XBP1 locus |
| Q24533603 | Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 |
| Q45302420 | Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease |
| Q45294278 | CAG repeat number governs the development rate of pathology in Huntington's disease |
| Q58673469 | CEPH Consortium Map of Chromosome 9 |
| Q24305288 | CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors |
| Q36967706 | CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids |
| Q40654698 | Candidate DNA replication initiation regions at human trinucleotide repeat disease loci |
| Q30416270 | Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset |
| Q79427967 | Candidate loci for Zimmermann-Laband syndrome at 3p14.3. |
| Q51775648 | Changing models of biomedical research. |
| Q46469228 | Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project |
| Q52226119 | Characterization of a duplication in the terminal band of 4p by molecular cytogenetics |
| Q36718909 | Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project |
| Q41001236 | Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes |
| Q72087736 | Chromosomal localization of the gene for human B-cell antigen CD40 |
| Q45296894 | Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker |
| Q38291925 | Chromosome 19q Deletions in Human Gliomas Overlap Telomeric to D19S219 and May Target a 425 kb Region Centromeric to D19S112 |
| Q33189489 | Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree |
| Q33644661 | Chromosome jumping from D4S10 (G8) toward the Huntington disease gene |
| Q70380314 | Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells |
| Q34315784 | Clinical diagnosis by whole-genome sequencing of a prenatal sample |
| Q34588012 | Clinical genetic testing for patients with autism spectrum disorders |
| Q30278084 | Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials |
| Q48135043 | Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report |
| Q34385151 | Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3. |
| Q48328556 | Cloning, characterization, and genomic structure of the mouse Ikbkap gene |
| Q47899855 | Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. |
| Q22010002 | Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31 |
| Q30425027 | Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region |
| Q34685520 | Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis |
| Q33640527 | Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17 |
| Q55191112 | Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests. |
| Q41591338 | Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line |
| Q30501640 | Complex patterns of linkage disequilibrium in the Huntington disease region |
| Q30424800 | Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration |
| Q44680930 | Construction of a GT polymorphism map of human 9q |
| Q33405662 | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders |
| Q30431120 | Copy number variation in familial Parkinson disease |
| Q42406353 | Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression |
| Q45803258 | Correction: dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism |
| Q58187400 | Cover Image, Volume 173A, Number 2, February 2017 |
| Q40544661 | D22S15--a fetal brain cDNA with BanII and SacI RFLP. |
| Q45303524 | DNA Markers for Nervous System Diseases |
| Q48091827 | DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree |
| Q36925095 | DNA methylation affecting the expression of murine leukemia proviruses |
| Q39503970 | DNA polymorphism and human disease |
| Q28282989 | DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11 |
| Q27341119 | Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum |
| Q40568126 | Defined physical limits of the Huntington disease gene candidate region |
| Q42507687 | Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. |
| Q34401694 | Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders |
| Q41035876 | Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature |
| Q37999850 | Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. |
| Q40506644 | Detection by PCR of a VNTR polymorphism at D4S43 |
| Q40505580 | Detection by PCR of the VNTR polymorphism at D4S95 |
| Q34563191 | Detection of copy number variants reveals association of cilia genes with neural tube defects |
| Q33300643 | Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance |
| Q67895755 | Different gene loci for hyperkalemic and hypokalemic periodic paralysis |
| Q35288349 | Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative |
| Q45293594 | Differential expression of normal and mutant Huntington's disease gene alleles |
| Q40507730 | Dinucleotide repeat polymorphism (D16S285) on human chromosome 16 |
| Q35061023 | Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34) |
| Q35061059 | Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34) |
| Q35061096 | Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). |
| Q35061135 | Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). |
| Q35061167 | Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34) |
| Q35061208 | Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). |
| Q35061239 | Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34) |
| Q35061255 | Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34) |
| Q35061295 | Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34) |
| Q35765089 | Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus |
| Q48160155 | Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). |
| Q48176620 | Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34 |
| Q45291354 | Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus |
| Q44279919 | Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1 |
| Q45289831 | Discrepancy resolved |
| Q24338502 | Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities |
| Q24300041 | Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux |
| Q36451466 | Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities |
| Q51994214 | Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. |
| Q24682949 | Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice |
| Q24643899 | Disruption of neurexin 1 associated with autism spectrum disorder |
| Q51247382 | Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole. |
| Q34675885 | Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy |
| Q37410761 | Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway |
| Q27316703 | Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism |
| Q43931334 | Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice |
| Q72844820 | Elastic DNA elements--boon or blight? |
| Q36994725 | Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. |
| Q30501651 | Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting |
| Q55410804 | Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). |
| Q30445013 | Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. |
| Q72279721 | Evidence for subarachnoid spread in the development of multiple meningiomas |
| Q45299229 | Evidence for the GluR6 gene associated with younger onset age of Huntington's disease |
| Q33597183 | Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus |
| Q69469504 | Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis |
| Q34303823 | Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas |
| Q57877954 | Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3 |
| Q36595094 | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus |
| Q45307085 | Expanding the notion of disease in Huntington's disease |
| Q28386577 | Expanding the phenotype and genotype of female GnRH deficiency |
| Q34013424 | Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. |
| Q41904124 | Expression of SMARCB1 (INI1) mutations in familial schwannomatosis |
| Q55044931 | Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. |
| Q37248874 | Factors associated with HD CAG repeat instability in Huntington disease |
| Q38715582 | Familial Alzheimer's disease: progress and problems |
| Q28205988 | Familial dysautonomia |
| Q34740224 | Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium |
| Q48218689 | Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes |
| Q30541697 | Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. |
| Q71722035 | Frequency and distribution of NF2 mutations in schwannomas |
| Q73118222 | Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus |
| Q40532867 | Further characterization of Pstl RFLPs at the acid alpha glucosidase (GAA) locus |
| Q45300413 | Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates |
| Q40558303 | Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism |
| Q45264157 | Gene linkage in familial amyotrophic lateral sclerosis: a progress report. |
| Q41667000 | Generation and characterization of irradiation hybrids of human chromosome 4. |
| Q41414467 | Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker |
| Q64886171 | Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. |
| Q33256755 | Genetic analysis of the GRIK2 modifier effect in Huntington's disease |
| Q33686776 | Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. |
| Q70027914 | Genetic analysis workshop IV: Huntington disease linkage analysis, data description |
| Q45304403 | Genetic criteria for Huntington's disease pathogenesis |
| Q43597292 | Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. |
| Q36327170 | Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences |
| Q48123063 | Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers |
| Q70334849 | Genetic linkage analysis of neurofibromatosis with DNA markers |
| Q42656167 | Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families |
| Q46014224 | Genetic linkage map for chromosome 21. |
| Q69930146 | Genetic linkage map of human chromosome 21 |
| Q59076230 | Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 |
| Q57419153 | Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene |
| Q53299482 | Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. |
| Q38243002 | Genetic modifiers of Huntington's disease |
| Q77907218 | Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression |
| Q34092510 | Genome-wide scan for Parkinson's disease: the GenePD Study |
| Q30445842 | Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study |
| Q29417034 | Genomewide association study for onset age in Parkinson disease |
| Q30437480 | Genomewide association study for susceptibility genes contributing to familial Parkinson disease |
| Q30425270 | Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease |
| Q33480310 | Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas |
| Q30502813 | Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. |
| Q45298206 | HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism |
| Q35056067 | HD CAG-correlated gene expression changes support a simple dominant gain of function |
| Q35153990 | HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes |
| Q36770275 | Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate |
| Q36746454 | Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features |
| Q37221971 | Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease |
| Q38612630 | Haplotype-based stratification of Huntington's disease |
| Q30439341 | Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study |
| Q51265421 | Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation. |
| Q57628925 | Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study |
| Q36223335 | Heritability of Risk for Sudden Cardiac Arrest in ESRD. |
| Q48723938 | Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. |
| Q45301191 | High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds |
| Q36661705 | Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity |
| Q35197558 | Homozygote for Huntington disease |
| Q35253059 | Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation |
| Q24596489 | Human chromosome 7: DNA sequence and biology |
| Q45290188 | Hunting for Huntington's disease. |
| Q44355271 | Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum |
| Q33594204 | Huntingtin facilitates polycomb repressive complex 2. |
| Q48736244 | Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons |
| Q28279245 | Huntingtin interacts with a family of WW domain proteins |
| Q28594526 | Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion |
| Q33915109 | Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis |
| Q45296265 | Huntingtin: a single bait hooks many species |
| Q30438950 | Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study |
| Q56083219 | Huntington disease |
| Q41677044 | Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. |
| Q40592141 | Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization |
| Q45305641 | Huntington disease: Estimation of heterozygote status using linked genetic markers |
| Q71911362 | Huntington's disease |
| Q73563284 | Huntington's disease |
| Q79121423 | Huntington's disease |
| Q67907220 | Huntington's disease |
| Q45294391 | Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains |
| Q45289986 | Huntington's disease and repeating trinucleotides |
| Q39460676 | Huntington's disease. Pathogenesis and management |
| Q40958023 | Huntington's disease: CAG genetics expands neurobiology |
| Q36531069 | Huntington's disease: seeing the pathogenic process through a genetic lens |
| Q42181050 | Huntington's disease: the case for genetic modifiers |
| Q41235542 | Huntington's disease: translating a CAG repeat into a pathogenic mechanism |
| Q34168210 | Huntingtons disease: linkage with G8 on chromosome 4 and its consequences |
| Q24673321 | Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 |
| Q71624817 | Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect |
| Q24310446 | Identification and characterization of two novel tetratricopeptide repeat-containing genes |
| Q28588379 | Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor |
| Q37020114 | Identification of a novel kindred with familial pancreatitis and pancreatic cancer |
| Q44129400 | Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice |
| Q41519505 | Identification of human chromosome 9 specific genes using exon amplification |
| Q28190185 | Identification of the first non-Jewish mutation in familial Dysautonomia |
| Q37346892 | Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus |
| Q52675925 | Implication of LRRC4C and DPP6 in neurodevelopmental disorders. |
| Q28509662 | Inactivation of the mouse Huntington's disease gene homolog Hdh |
| Q54266018 | Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. |
| Q41774003 | Induction of erythroid differentiation in vitro by purines and purine analogues |
| Q77494307 | Inflammatory bowel disease: is it in the genes? |
| Q42688205 | Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study |
| Q40608895 | Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells |
| Q57628958 | Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease |
| Q73195911 | Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF |
| Q50312865 | Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family |
| Q48355109 | Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase |
| Q36389671 | Isolation and localization of DNA segments from specific human chromosomes |
| Q56804260 | Isolation of a novel gene underlying batten disease, CLN3 |
| Q36118670 | Isolation of polymorphic DNA fragments from human chromosome 4. |
| Q35559585 | Isolation of polymorphic DNA segments from human chromosome 21. |
| Q24312059 | Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex |
| Q36004324 | KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant |
| Q36722643 | Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder |
| Q33585608 | Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21 |
| Q51858540 | Large-scale medical resequencing for X-linked mental retardation. |
| Q30489530 | Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice |
| Q45297101 | Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse |
| Q56513214 | Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded |
| Q34564654 | Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate |
| Q36763258 | Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. |
| Q41124429 | Linkage analysis in juvenile neuronal ceroid lipofuscinosis |
| Q41496851 | Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. |
| Q70091641 | Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21 |
| Q45298656 | Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
| Q44947663 | Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence |
| Q45292058 | Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. |
| Q35200204 | Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. |
| Q35194242 | Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16 |
| Q35196868 | Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity |
| Q69902891 | Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes |
| Q38356149 | Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease |
| Q28505664 | Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice |
| Q45288749 | Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease |
| Q70134058 | Loss of chromosome 22 alleles in human sporadic spinal schwannomas |
| Q39590706 | Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma |
| Q77715873 | Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2 |
| Q28506602 | MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus |
| Q72529989 | MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p |
| Q24299345 | Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation |
| Q24306359 | Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2 |
| Q28244302 | Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22 |
| Q28145150 | Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer |
| Q44040255 | Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3 |
| Q45297893 | Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15. |
| Q33665922 | Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21 |
| Q28289243 | Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a) |
| Q34390246 | Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes |
| Q40507687 | MboI RFLP at the D4S43 (C4H) locus |
| Q34424265 | Meclizine is neuroprotective in models of Huntington's disease |
| Q36132408 | Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency |
| Q28594136 | Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation |
| Q33600670 | Merlin: the neurofibromatosis 2 tumor suppressor |
| Q36569413 | Metabolic disruption identified in the Huntington's disease transgenic sheep model |
| Q28510087 | Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors |
| Q33874840 | Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders |
| Q34212342 | Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus |
| Q36494071 | Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth |
| Q39598259 | Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis |
| Q48317507 | Modification of the Na+ current conducted by the rat skeletal muscle ? subunit by coexpression with a human brain ? subunit |
| Q40509235 | Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine |
| Q57319188 | Molecular Genetics of Familial Alzheimer’s Disease |
| Q36666968 | Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs |
| Q69840875 | Molecular analysis of chromosome 21 using somatic cell hybrids |
| Q30501205 | Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis |
| Q35247605 | Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. |
| Q33576824 | Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy |
| Q24311913 | Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor |
| Q35225332 | Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4 |
| Q45952232 | Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome |
| Q30502412 | Molecular genetic approach to human meningioma: loss of genes on chromosome 22 |
| Q38202131 | Molecular genetic approaches to Alzheimer's disease |
| Q39465231 | Molecular genetic strategies to investigate Huntington's disease. |
| Q37458411 | Molecular genetics of Alzheimer disease amyloid |
| Q40769360 | Molecular genetics of Huntington's disease |
| Q69899383 | Molecular genetics of Huntington's disease |
| Q38708016 | Molecular genetics of familial Alzheimer's disease |
| Q33674852 | Molecular genetics of human chromosome 21. |
| Q37730802 | Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). |
| Q38485255 | Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens |
| Q34185510 | Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease |
| Q24675500 | Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy |
| Q36247583 | Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations |
| Q41737191 | Molecular neurobiology and genetics: investigation of neural function and dysfunction |
| Q36530387 | Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency |
| Q54968556 | Monozygotic twins discordant for neurofibromatosis 1. |
| Q28387422 | Mosaic copy number variation in schizophrenia |
| Q34662498 | Mouse Huntington's disease gene homolog (Hdh). |
| Q48117869 | Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments |
| Q40540337 | MspI RFLP for human MAOA gene |
| Q40922131 | Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment |
| Q40863618 | Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars |
| Q24657612 | Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome |
| Q48181670 | Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types |
| Q35795458 | NF2 gene analysis distinguishes hemangiopericytoma from meningioma. |
| Q37275182 | NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth |
| Q21092495 | NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects |
| Q24320465 | NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins |
| Q71581371 | Neurofibromatosis 2 gene in human colorectal cancer |
| Q34685814 | Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred |
| Q41099831 | Neurofibromatosis 2: loss of merlin's protective spell |
| Q41579794 | Neurofibromatosis type 1 gene mutations in neuroblastoma |
| Q40479891 | Neuropathology and Molecular Genetics of Neurofibromatosis 2 and Related Tumors |
| Q41667937 | New DNA markers in the Huntington's disease gene candidate region |
| Q33865401 | Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research |
| Q53215696 | No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. |
| Q53320282 | No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. |
| Q34514433 | No post-genetics era in human disease research |
| Q45300407 | Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels |
| Q24337722 | Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel |
| Q34093958 | Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. |
| Q64975191 | Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma. |
| Q30448742 | PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study |
| Q49557868 | Pain correlates with germline mutation in schwannomatosis |
| Q69928858 | Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes |
| Q48301633 | Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. |
| Q71700406 | Peripherin gene is linked to keratin 18 gene on human chromosome 12 |
| Q48840079 | Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. |
| Q45295732 | Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. |
| Q45296863 | Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. |
| Q69350063 | Physical mapping of a translocation breakpoint in neurofibromatosis |
| Q30424048 | Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset |
| Q55020670 | Population-specific genetic modification of Huntington's disease in Venezuela. |
| Q37604396 | Potential molecular consequences of transgene integration: The R6/2 mouse example |
| Q34389378 | Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31 |
| Q45296919 | Predictive testing for Huntington's disease with use of a linked DNA marker |
| Q70996235 | Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33 |
| Q70895624 | Prenatal diagnostic testing for familial dysautonomia using linked genetic markers |
| Q45306693 | Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients |
| Q45304534 | Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder |
| Q35043972 | Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder |
| Q36476833 | Progress toward the Isolation and Characterization of the Genes Causing Neurofibromatosis |
| Q37835596 | Progress towards the isolation and characterization of the genes causing neurofibromatosis |
| Q36415791 | Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease |
| Q45291899 | Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease |
| Q45302302 | Quantitative neuropathological changes in presymptomatic Huntington's disease |
| Q40472079 | RFLPS at the D21S19 locus of human chromosome 21. |
| Q35860947 | RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression |
| Q41611020 | Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. |
| Q53316140 | Rapid induction of Alzheimer A beta amyloid formation by zinc. |
| Q42502729 | Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation |
| Q36993801 | Recombinant DNA techniques in the diagnosis of inherited disorders |
| Q45294302 | Reduced penetrance of the Huntington's disease mutation |
| Q36812638 | Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig |
| Q35245989 | Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes |
| Q41957133 | Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22. |
| Q35200986 | Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids |
| Q39377991 | Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types |
| Q45290871 | Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease |
| Q54471460 | Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. |
| Q30439050 | Replication of association between ELAVL4 and Parkinson disease: the GenePD study |
| Q69848383 | Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4 |
| Q68850809 | Report of the committee on the genetic constitution of chromosomes 3 and 4 |
| Q47070480 | Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. |
| Q44717225 | Rescue of a human mRNA splicing defect by the plant cytokinin kinetin |
| Q24799882 | Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation |
| Q67297429 | Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion |
| Q35883202 | Role of common and rare APP DNA sequence variants in Alzheimer disease |
| Q29465800 | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome |
| Q33749991 | Screening for familial APP mutations in sporadic cerebral amyloid angiopathy |
| Q40124656 | Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide |
| Q24312311 | Sequence Analysis and Mapping of a Novel Human Mitochondrial ATP Synthase Subunit 9 cDNA (ATP5G3) |
| Q48057035 | Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice |
| Q36045312 | Sequence-Level Analysis of the Major European Huntington Disease Haplotype |
| Q67577183 | Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21 |
| Q42099586 | Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region |
| Q35923213 | Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. |
| Q45291612 | Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. |
| Q45291498 | Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum |
| Q44316963 | Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice |
| Q35198033 | Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy |
| Q40601935 | Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews |
| Q42373276 | Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis |
| Q45299548 | Studies of a DNA marker (G8) genetically linked to Huntington disease in British families |
| Q45289080 | Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. |
| Q30417570 | TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease |
| Q45294773 | Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. |
| Q35060932 | The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism |
| Q58673457 | The CEPH consortium linkage map of human chromosome 16 |
| Q45301425 | The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development |
| Q68105877 | The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21) |
| Q28284187 | The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane |
| Q28211950 | The GPR54 gene as a regulator of puberty |
| Q36579812 | The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease |
| Q30440660 | The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study |
| Q36559246 | The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease |
| Q77952966 | The NF2 gene and merlin protein in human osteosarcomas |
| Q40460815 | The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function. |
| Q28504969 | The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation |
| Q43488122 | The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11 |
| Q38241154 | The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives. |
| Q34356775 | The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain |
| Q35797932 | The direct screening of cosmid libraries with YAC clones |
| Q34438326 | The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein |
| Q40450477 | The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs |
| Q34753255 | The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. |
| Q72017465 | The gene for achondroplasia maps to the telomeric region of chromosome 4p |
| Q41456204 | The genetic defect causing Huntington's disease: repeated in other contexts? |
| Q53190050 | The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. |
| Q37640927 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. |
| Q28213631 | The genomic structure of the human skeletal muscle sodium channel gene |
| Q72827818 | The importance of genetic mosaicism in human disease |
| Q36783677 | The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library |
| Q38201274 | The molecular biology of human glial tumors |
| Q28243847 | The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms |
| Q35194536 | The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD |
| Q33220079 | The organization of a nuclear DNA sequence from a higher plant: Molecular cloning and characterization of soybean ribosomal DNA |
| Q67978796 | The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10 |
| Q35246132 | The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. |
| Q24799224 | The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor |
| Q55481772 | The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. |
| Q45303652 | The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. |
| Q37079570 | The search for the genetic defects in Huntington's disease and familial Alzheimer's disease |
| Q30997831 | The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. |
| Q40186200 | Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia |
| Q24536194 | Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia |
| Q24531976 | Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. |
| Q40570616 | Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. |
| Q55383186 | Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. |
| Q34000852 | Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families |
| Q36395820 | Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei |
| Q36096140 | Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies |
| Q41036331 | Trinucleotide instability: a repeating theme in human inherited disorders |
| Q33596210 | Trinucleotide repeat length and progression of illness in Huntington's disease |
| Q48151994 | Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1) |
| Q28469280 | Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism |
| Q42839207 | Universal absence of merlin, but not other ERM family members, in schwannomas. |
| Q45795446 | Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines |
| Q58968182 | Valuable libraries |
| Q37073913 | Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset |
| Q24301463 | WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome |
| Q50210665 | WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. |
| Q34591768 | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment |
| Q35147342 | miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement |
| Q56072830 | J. Allyn Taylor International Prize in Medicine | winner | P1346 |