| P2093 | author name string | R Frank Kooy | |
| | Geert Vandeweyer | |
| P2860 | cites work | Initial sequencing and analysis of the human genome | Q21045365 |
| | Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome | Q21261463 |
| | Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation | Q24290357 |
| | Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease | Q24291067 |
| | Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation | Q24292830 |
| | Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | Q24314619 |
| | A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome | Q24314944 |
| | The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase | Q24336782 |
| | Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome | Q24337759 |
| | Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 |
| | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation | Q24532155 |
| | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 |
| | The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation | Q24535650 |
| | De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl | Q44598375 |
| | Frequency of rare fragile sites among mentally subnormal schoolchildren | Q44876141 |
| | De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome | Q45086362 |
| | X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations | Q45345060 |
| | The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. | Q47589625 |
| | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis | Q48048121 |
| | Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. | Q48112416 |
| | CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. | Q48277698 |
| | Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain | Q48750931 |
| | Temtamy-like syndrome associated with translocation of 2p24 and 9q32 | Q50482159 |
| | Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome | Q24535749 |
| | Prader-Willi syndrome is caused by disruption of the SNRPN gene | Q24540023 |
| | FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation | Q24610524 |
| | Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities | Q24646325 |
| | Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster | Q24653893 |
| | The reelin and GAD67 promoters are activated by epigenetic drugs that facilitate the disruption of local repressor complexes | Q24657941 |
| | Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome | Q24669780 |
| | Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype | Q24672616 |
| | A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15 | Q28142882 |
| | Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation | Q28143065 |
| | The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A | Q28207947 |
| | Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain | Q28210231 |
| | A new paradigm for West syndrome based on molecular and cell biology | Q28249037 |
| | Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability | Q28257488 |
| | Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint | Q28278808 |
| | Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome | Q28287155 |
| | Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1 | Q28290641 |
| | Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient | Q28292519 |
| | Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP | Q28295041 |
| | De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints | Q30445573 |
| | A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation | Q30538580 |
| | Detection of subtle reciprocal translocations by fluorescence in situ hybridization | Q31153731 |
| | Gross congenital abnormality associated with an apparently balanced chromosomal translocation g(9;17)(q34;q11) | Q33484702 |
| | A mentally retarded child with a translocation involving chromosomes 12 and 19 | Q33586517 |
| | Another example favouring the location of BPES at 3q2. | Q33594924 |
| | Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). | Q33679780 |
| | A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. | Q33888444 |
| | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 |
| | Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations | Q33942141 |
| | Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease | Q34083727 |
| | Haploinsufficiency of NSD1 causes Sotos syndrome | Q34118696 |
| | Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins | Q34142566 |
| | Identification of SATB2 as the cleft palate gene on 2q32-q33. | Q34221857 |
| | The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark | Q50553226 |
| | Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. | Q51904955 |
| | Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation. | Q51912360 |
| | A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism. | Q51927420 |
| | Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. | Q51929767 |
| | Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. | Q51939019 |
| | De novo balanced translocation (2;10)(q24;q22) associated with mental retardation. | Q51945025 |
| | Genetic syndromes among individuals with mental retardation. | Q51946361 |
| | Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. | Q51999100 |
| | Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. | Q52003015 |
| | Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient. | Q52010181 |
| | Clinical experience with balanced reciprocal translocations. | Q52019555 |
| | Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). | Q52054615 |
| | Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27). | Q52077088 |
| | Excess of mental retardation and/or congenital malformation in reciprocal translocations in man. | Q52089146 |
| | Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. | Q52098444 |
| | Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. | Q52101282 |
| | A case of 46,XY,t(1;13) (q24;q32) with mental retardation. | Q52110420 |
| | Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. | Q52116344 |
| | The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome. | Q52118273 |
| | Point mutations in human GLI3 cause Greig syndrome. | Q52192748 |
| | Chromosomal studies of children with developmental language retardation. | Q52286278 |
| | Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). | Q52539134 |
| | Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. | Q52551093 |
| | Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. | Q52585320 |
| | Identification of translocation chromosomes by quinacrine fluorescence. | Q53957875 |
| | GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome | Q55670535 |
| | Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES) | Q56583292 |
| | 12;14 translocation in Coffin Siris syndrome | Q57927994 |
| | A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome | Q57928940 |
| | Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)] | Q61412431 |
| | A dynamic study in two new cases of X chromosome translocations | Q67327336 |
| | Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals | Q70030175 |
| | Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients | Q70070764 |
| | Fragile chromosome 16(q22) cause a balanced translocation at the same point | Q71144116 |
| | Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. | Q80808717 |
| | Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation | Q81083783 |
| | ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal | Q81347149 |
| | A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype | Q81674523 |
| | Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. | Q34408206 |
| | Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. | Q34415995 |
| | Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. | Q34429931 |
| | Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene | Q34435672 |
| | Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome | Q34556894 |
| | A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Q34556905 |
| | Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. | Q34599654 |
| | Chromosome 2q37 deletion: clinical and molecular aspects | Q34696639 |
| | XLMR genes: update 2007. | Q34736415 |
| | The epidemiology of mental retardation: challenges and opportunities in the new millennium | Q34821968 |
| | Telomeres: a diagnosis at the end of the chromosomes | Q35154981 |
| | Mental retardation associated with "balanced" chromosome rearrangements | Q35202031 |
| | Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment | Q35245521 |
| | Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome | Q35250598 |
| | Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes | Q35432122 |
| | The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes | Q35446985 |
| | New perspectives for the elucidation of genetic disorders | Q35946291 |
| | Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans | Q36156859 |
| | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures | Q36627230 |
| | Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project | Q36718909 |
| | Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly | Q36718950 |
| | Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort | Q36719004 |
| | Noncoding RNAs in the brain. | Q36989246 |
| | Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells | Q37105909 |
| | Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome | Q37219174 |
| | Noncoding RNAs in Long-Term Memory Formation | Q37321828 |
| | Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation | Q39916214 |
| | Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy | Q40357939 |
| | FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality | Q41203219 |
| | The prevalence of mental retardation: a critical review of recent literature. | Q41376660 |
| | Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics | Q41647578 |
| | Translocation 19;Y in a child with Bannayan-Zonana phenotype | Q41668274 |
| | Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents | Q41684186 |
| | Candidate region for Coffin-Siris syndrome at 7q32-->34. | Q41752442 |
| | A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly | Q41921481 |
| | Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome | Q41922979 |
| | A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations | Q41937297 |
| | Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). | Q42057827 |
| | Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections | Q42243551 |
| | Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation | Q43073737 |
| | Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome | Q43105012 |
| P433 | issue | 1 | |
| P304 | page(s) | 133-147 | |
| P577 | publication date | 2009-04-05 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Balanced translocations in mental retardation | |
| P478 | volume | 126 | |