| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1042310620 |
| P356 | DOI | 10.1038/NG1197-285 |
| P3181 | OpenCitations bibliographic resource ID | 2283113 |
| P698 | PubMed publication ID | 9354791 |
| P5875 | ResearchGate publication ID | 13874323 |
| P50 | author | John Marius Opitz | Q99194 |
| Brunella Franco | Q30170304 | ||
| Manuela Volta | Q47823372 | ||
| Maximilian Muenke | Q62503117 | ||
| P2093 | author name string | A Ballabio | |
| G Andolfi | |||
| H H Ropers | |||
| W Berger | |||
| S Gilgenkrantz | |||
| R C Hennekam | |||
| E I Rugarli | |||
| R W Marion | |||
| G J Feldman | |||
| K Gaudenz | |||
| S Schweiger | |||
| N A Quaderi | |||
| P2860 | cites work | A Gene Map of the Human Genome | Q22065571 |
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| A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy | Q24314592 | ||
| In vivo and in vitro characterization of the B1 and B2 zinc-binding domains from the acute promyelocytic leukemia protooncoprotein PML | Q24314675 | ||
| Genomic binding-site cloning reveals an estrogen-responsive gene that encodes a RING finger protein | Q24321250 | ||
| Molecular definition and sequence motifs of the 52-kD component of human SS-A/Ro autoantigen | Q24595305 | ||
| Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs | Q27860573 | ||
| Predicting coiled coils from protein sequences | Q27861097 | ||
| Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
| Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms | Q28256462 | ||
| The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions | Q28262213 | ||
| Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 | Q28284655 | ||
| The RING finger domain: a recent example of a sequence-structure family | Q28289644 | ||
| The PML-RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR | Q28300893 | ||
| Carboxy-terminal cytoplasmic domain of mouse butyrophilin specifically associates with a 150-kDa protein of mammary epithelial cells and milk fat globule membrane | Q28510637 | ||
| Sonic hedgehog mediates the polarizing activity of the ZPA | Q29616565 | ||
| rpt-1, an intracellular protein from helper/inducer T cells that regulates gene expression of interleukin 2 receptor and human immunodeficiency virus type 1 | Q33567423 | ||
| De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies | Q33596991 | ||
| Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. | Q33596996 | ||
| The telecanthus-hypospadias syndrome. | Q33751323 | ||
| A review of the molecular and cellular biology of butyrophilin, the major protein of bovine milk fat globule membrane | Q34337574 | ||
| Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. | Q34381001 | ||
| BBBG syndrome or Opitz syndrome: new family | Q35925583 | ||
| G syndrome: a review of the literature and a case report | Q36004733 | ||
| Cytoplasmic retention of Xenopus nuclear factor 7 before the mid blastula transition uses a unique anchoring mechanism involving a retention domain and several phosphorylation sites | Q36233645 | ||
| Finely tuned regulation of cytoplasmic retention of Xenopus nuclear factor 7 by phosphorylation of individual threonine residues | Q36557440 | ||
| A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. | Q36728979 | ||
| G syndrome and its otolaryngologic manifestations | Q38607891 | ||
| G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography | Q39688934 | ||
| Phenotypic overlap of the BBB and G syndromes | Q40468468 | ||
| Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? | Q40593553 | ||
| The world according to hedgehog | Q40915522 | ||
| Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature | Q41178545 | ||
| A high resolution deletion map of human chromosome Xp22. | Q41544332 | ||
| Opitz oculo-genital-laryngeal syndrome (Opitz BBB/G compound syndrome) | Q46189117 | ||
| Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development | Q48057670 | ||
| Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly | Q48058539 | ||
| The cloning and characterization of a maternally expressed novel zinc finger nuclear phosphoprotein (xnf7) in Xenopus laevis | Q48201704 | ||
| Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies | Q48255379 | ||
| Opitz GBBB syndrome: chromosomal evidence of an X-linked form. | Q51003169 | ||
| De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities. | Q52074214 | ||
| Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. | Q52219104 | ||
| The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. | Q52255141 | ||
| GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families | Q55670532 | ||
| An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3 | Q56909270 | ||
| CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients | Q67567009 | ||
| Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development | Q68002880 | ||
| Characterisation of a novel cysteine/histidine-rich metal binding domain from Xenopus nuclear factor XNF7 | Q72638230 | ||
| Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region | Q73062830 | ||
| Genome maps 7. The human transcript map. Wall chart | Q95792993 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Opitz-GBBB syndrome | Q3508750 |
| pattern specification process | Q14820048 | ||
| Midline 1 | Q21132775 | ||
| P304 | page(s) | 285-91 | |
| P577 | publication date | 1997-11-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 | |
| P478 | volume | 17 |
| Q35843227 | 2011 William Allan Award introduction: John M. Opitz |
| Q24540115 | A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects |
| Q50329951 | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| Q54319740 | A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. |
| Q24318946 | A cosmid and cDNA fine physical map of a human chromosome 13q14 region frequently lost in B-cell chronic lymphocytic leukemia and identification of a new putative tumor suppressor gene, Leu5 |
| Q84244604 | A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI) |
| Q33406010 | A large new subset of TRIM genes highly diversified by duplication and positive selection in teleost fish |
| Q24546532 | A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia |
| Q30577231 | A novel Netrin-1-sensitive mechanism promotes local SNARE-mediated exocytosis during axon branching |
| Q24290630 | A novel RING finger-B box-coiled-coil protein, GERP |
| Q56328626 | A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis |
| Q36459117 | A pronounced evolutionary shift of the pseudoautosomal region boundary in house mice |
| Q35035507 | A short pseudoautosomal region in laboratory mice |
| Q30352364 | A structure-function study of MID1 mutations associated with a mild Opitz phenotype. |
| Q24337034 | Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A |
| Q26795625 | Adaptive responses of androgen receptor signaling in castration-resistant prostate cancer |
| Q33305715 | Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1. |
| Q52665584 | Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2. |
| Q36800533 | Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs |
| Q28138106 | BSPRY, a novel protein of the Ro-Ret family |
| Q41920313 | Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features |
| Q73061553 | Breakthroughs in the genetics of hereditary fevers |
| Q36462514 | Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma. |
| Q38117366 | Cellular and molecular basis of cerebellar development |
| Q35125197 | Chapter 18 Pediatric clinical EMG challenge with bulbar dysfunction |
| Q42649215 | Characterisation of a cluster of TRIM-B30.2 genes in the chicken MHC B locus. |
| Q33785434 | Characterization of a core fragment of the rhesus monkey TRIM5α protein |
| Q36927223 | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. |
| Q85487057 | Clinical geneticists' views of VACTERL/VATER association |
| Q24293494 | Cloning and characterization of a novel human SPRYD4 gene encoding a putative SPRY domain-containing protein |
| Q40287254 | Cyclophilin A renders human immunodeficiency virus type 1 sensitive to Old World monkey but not human TRIM5 alpha antiviral activity. |
| Q21092361 | DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer |
| Q84303111 | Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia |
| Q37992627 | Developmental disorders of the midbrain and hindbrain |
| Q30309870 | Developmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome |
| Q28204904 | Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome |
| Q33705444 | E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to Degeneration |
| Q34521055 | Effects of Prenatal Testosterone Exposure on Sexually Dimorphic Gene Expression in the Neonatal Mouse Cortex and Hippocampus |
| Q64075713 | Emerging Roles of the TRIM E3 Ubiquitin Ligases MID1 and MID2 in Cytokinesis |
| Q52061727 | Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome. |
| Q47923860 | Evolutionary rate of a gene affected by chromosomal position |
| Q28189438 | Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis |
| Q34869864 | FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. |
| Q41751840 | Familial Mediterranean fever: the genetics of inflammation |
| Q28140420 | Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism |
| Q37613190 | Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature |
| Q37587513 | Genetics of cleft lip and cleft palate. |
| Q34271559 | Genetics of craniofacial development and malformation |
| Q39394117 | Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization |
| Q21283880 | Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties |
| Q22009422 | HERF1, a novel hematopoiesis-specific RING finger protein, is required for terminal differentiation of erythroid cells |
| Q30353792 | Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development. |
| Q62809316 | Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome |
| Q30310233 | Identification of a novel microtubule-associated protein that regulates microtubule organization and cytokinesis by using a GFP-screening strategy |
| Q48295006 | Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. |
| Q45730515 | Large-scale identification of novel potential disease loci in mouse leukemia applying an improved strategy for cloning common virus integration sites |
| Q36028489 | Loss of TRIM62 expression is an independent adverse prognostic factor in acute myeloid leukemia |
| Q34390765 | MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications |
| Q21284182 | MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders |
| Q80938365 | MID1 mutations in patients with X-linked Opitz G/BBB syndrome |
| Q28202743 | MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation |
| Q49950056 | MID1-PP2A complex functions as new insights in human lung adenocarcinoma |
| Q56112082 | MID2 can substitute for MID1 and control exocytosis of lytic granules in cytotoxic T cells |
| Q54684565 | Malformations among the X-linked intellectual disability syndromes. |
| Q55387038 | Mammalian TRIM67 Functions in Brain Development and Behavior. |
| Q50887075 | Mechanism of midline defect-causing mutation P151L in MID1 revealed. |
| Q36146335 | Membrane Repair: Mechanisms and Pathophysiology. |
| Q64282564 | MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip |
| Q38792952 | Microtubules, polarity and vertebrate neural tube morphogenesis. |
| Q36447391 | Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. |
| Q35285881 | Midline 1 controls polarization and migration of murine cytotoxic T cells |
| Q54198228 | Midline 1 directs lytic granule exocytosis and cytotoxicity of mouse killer T cells. |
| Q24803465 | Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules |
| Q88561277 | Modulation of F-actin dynamics by maternal Mid1ip1L controls germ plasm aggregation and furrow recruitment in the zebrafish embryo |
| Q41910419 | Molecular characterization and expression pattern of tripartite motif protein 39 in Gallus gallus with a complete PRY/SPRY domain |
| Q34614055 | Molecular characterization of the mouse In(10)17Rk inversion and identification of a novel muscle-specific gene at the proximal breakpoint |
| Q35601459 | Molecular dynamics simulation reveals insights into the mechanism of unfolding by the A130T/V mutations within the MID1 zinc-binding Bbox1 domain |
| Q38004609 | Molecular mechanisms of cell shape changes that contribute to vertebrate neural tube closure |
| Q34354315 | Monogenic causes of X-linked mental retardation. |
| Q30520621 | Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit α4, altering PP2A stability and microtubule-associated protein phosphorylation |
| Q28286574 | Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation |
| Q34155302 | Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome |
| Q28236665 | Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth |
| Q35361558 | Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome |
| Q24672059 | Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome |
| Q28478425 | NMR studies of the C-terminus of alpha4 reveal possible mechanism of its interaction with MID1 and protein phosphatase 2A |
| Q28088384 | New insights into craniofacial malformations |
| Q24539178 | Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain |
| Q30424095 | Origin and diversification of TRIM ubiquitin ligases |
| Q58994819 | Orofacial Clefts: A Worldwide Review of the Problem |
| Q28204823 | PML protein isoforms and the RBCC/TRIM motif |
| Q58060865 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder |
| Q38238162 | Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization |
| Q60190901 | Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes |
| Q24601712 | Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. |
| Q77647417 | Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome |
| Q33510677 | Point mutations in GLI3 lead to misregulation of its subcellular localization |
| Q41712154 | Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate. |
| Q39246100 | Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1). |
| Q34273588 | Pub, a novel PU.1 binding protein, regulates the transcriptional activity of PU.1 |
| Q48270137 | RING finger, B-box, and coiled-coil (RBCC) protein expression in branchial epithelial cells of Japanese eel, Anguilla japonica. |
| Q22011176 | Reconstitution of the KRAB-KAP-1 repressor complex: a model system for defining the molecular anatomy of RING-B box-coiled-coil domain-mediated protein-protein interactions |
| Q42144929 | Reduced Mid1 Expression and Delayed Neuromotor Development in daDREAM Transgenic Mice |
| Q54414790 | Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. |
| Q37914113 | Regulation of innate immune signalling pathways by the tripartite motif (TRIM) family proteins |
| Q28513866 | Regulation of microtubule dynamics and myogenic differentiation by MURF, a striated muscle RING-finger protein |
| Q28254026 | Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing |
| Q36324988 | Relationship between SPRY and B30.2 protein domains. Evolution of a component of immune defence? |
| Q51665673 | Repression of the Aryl Hydrocarbon Receptor Is Required to Maintain Mitotic Progression and Prevent Loss of Pluripotency of Embryonic Stem Cells. |
| Q24597380 | SMART, a simple modular architecture research tool: identification of signaling domains |
| Q40697551 | Sixty years of X-linked mental retardation: a historical footnote |
| Q27715733 | Solution structure of the microtubule-targeting COS domain of MID1 |
| Q50977728 | Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome. |
| Q38058751 | Structure and function of the SPRY/B30.2 domain proteins involved in innate immunity |
| Q38260549 | TRIM family proteins: emerging class of RING E3 ligases as regulator of NF-κB pathway |
| Q24329175 | TRIM family proteins: retroviral restriction and antiviral defence |
| Q24313358 | TRIM32 is an E3 ubiquitin ligase for dysbindin |
| Q42520295 | TRIM9 is specifically expressed in the embryonic and adult nervous system |
| Q42517247 | The Caenorhabditis elegans homolog of the Opitz syndrome gene, madd-2/Mid1, regulates anchor cell invasion during vulval development |
| Q30650786 | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| Q34507052 | The E3 ubiquitin ligase TRIM62 and inflammation-induced skeletal muscle atrophy |
| Q30426855 | The E3 ubiquitin ligase- and protein phosphatase 2A (PP2A)-binding domains of the Alpha4 protein are both required for Alpha4 to inhibit PP2A degradation |
| Q38557409 | The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later |
| Q28178134 | The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node |
| Q42622655 | The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex |
| Q22009027 | The Opitz syndrome gene product, MID1, associates with microtubules |
| Q40337569 | The SPRY domain of SSB-2 adopts a novel fold that presents conserved Par-4-binding residues |
| Q39010225 | The TRIM-FLMN protein TRIM45 directly interacts with RACK1 and negatively regulates PKC-mediated signaling pathway. |
| Q34821968 | The epidemiology of mental retardation: challenges and opportunities in the new millennium |
| Q24291475 | The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments |
| Q35030708 | The genexpress IMAGE knowledge base of the human muscle transcriptome: a resource of structural, functional, and positional candidate genes for muscle physiology and pathologies |
| Q63722685 | The hedgehog pathway and ocular developmental anomalies |
| Q48868610 | The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells |
| Q24291183 | The tripartite motif family identifies cell compartments |
| Q34282154 | The tripartite motif protein MADD-2 functions with the receptor UNC-40 (DCC) in Netrin-mediated axon attraction and branching. |
| Q34784606 | The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development |
| Q33639123 | Transcription factors in dysmorphology |
| Q42088655 | Tripartite motif-containing 29 expression in squamous cell carcinoma |
| Q28506716 | Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family |
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| Q44379396 | Ubiquitylation at the crossroads of development and disease. |
| Q30789721 | Underdeveloped uterus and reduced estrogen responsiveness in mice with disruption of the estrogen-responsive finger protein gene, which is a direct target of estrogen receptor alpha. |
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| Q24600367 | VACTERL/VATER Association |
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