Published in Am J Hum Genet on June 05, 2000
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. J Negat Results Biomed (2006) 1.64
Molecular evolution of the homeodomain family of transcription factors. Nucleic Acids Res (2001) 1.48
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet (2005) 1.29
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet (2003) 1.29
HOX genes: seductive science, mysterious mechanisms. Ulster Med J (2006) 1.18
Saturation of the human phenome. Curr Genomics (2010) 1.09
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
Trinucleotide expansions leading to an extended poly-L-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation. Protein Sci (2003) 0.95
Survival of Hoxa13 homozygous mutants reveals a novel role in digit patterning and appendicular skeletal development. Dev Dyn (2010) 0.94
BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud. Evol Dev (2008) 0.94
Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability. Nucleic Acids Res (2005) 0.92
A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies. Fertil Steril (2009) 0.92
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. BMC Med Genet (2012) 0.90
Comparative gene expression analysis of genital tubercle development reveals a putative appendicular Wnt7 network for the epidermal differentiation. Dev Biol (2010) 0.88
Lower urinary tract development and disease. Wiley Interdiscip Rev Syst Biol Med (2013) 0.87
Review of the molecular development of the thumb: digit primera. Clin Orthop Relat Res (2014) 0.86
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster. Mol Syndromol (2011) 0.85
Oncogenic function of the homeobox A13-long noncoding RNA HOTTIP-insulin growth factor-binding protein 3 axis in human gastric cancer. Oncotarget (2016) 0.84
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol (2007) 0.84
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. Orphanet J Rare Dis (2011) 0.82
Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy. J Genet Syndr Gene Ther (2013) 0.82
Diminished vaginal HOXA13 expression in women with pelvic organ prolapse. Menopause (2009) 0.82
Molecular genetics of Müllerian duct formation, regression and differentiation. Sex Dev (2014) 0.81
The loss of Hoxa5 function causes estrous acyclicity and ovarian epithelial inclusion cysts. Endocrinology (2012) 0.81
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet (2013) 0.81
Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly. Genetics (2009) 0.80
The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures. PLoS One (2012) 0.78
Molecular evolution of HoxA13 and the multiple origins of limbless morphologies in amphibians and reptiles. Genet Mol Biol (2015) 0.76
Expanded HOXA13 polyalanine tracts in a monotreme. Evol Dev (2008) 0.75
Carpal Coalitions and Metacarpal Synostoses: A Review. Hand (N Y) (2016) 0.75
HOX genes: Major actors in resistance to selective endocrine response modifiers. Biochim Biophys Acta (2016) 0.75
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PLoS One (2016) 0.75
Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome. J Mol Biol (2016) 0.75
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell (1997) 7.47
Crystal structure of a MAT alpha 2 homeodomain-operator complex suggests a general model for homeodomain-DNA interactions. Cell (1991) 5.14
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science (1996) 5.13
Homeodomain-DNA recognition. Cell (1994) 4.68
Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4. Cell (1996) 4.55
Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet (1997) 3.40
Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod. Development (1996) 2.96
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet (1998) 2.26
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A (1997) 1.78
Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature (1996) 1.57
The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Nat Genet (1996) 1.28
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet (1996) 1.27
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet (1998) 1.17
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science (1997) 1.01
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am J Hum Genet (1999) 0.97
Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein. Dev Biol (2000) 0.93
The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract. J Pediatr (1970) 0.87
The hand-foot-genital syndrome: on the variable expression in affected males. Clin Genet (1993) 0.85
Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation. Am J Med Genet (1992) 0.84
Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies. Fertil Steril (1983) 0.84
A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome. Birth Defects Orig Artic Ser (1975) 0.84
Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome. Pediatr Radiol (1976) 0.83
The hand-foot-genital (hand-foot-uterus) syndrome: family report and update. Am J Med Genet (1988) 0.82
Hand-foot-genital syndrome: the importance of hallux varus. Pediatr Radiol (1990) 0.80
Acral-genital anomalies combined with ear anomalies. Am J Med Genet (1989) 0.80
Urinary tract abnormalities in hand-foot-genital syndrome. Am J Med Genet (1989) 0.80
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science (2001) 5.22
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature (2001) 4.41
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet (2000) 3.42
Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet (1997) 3.40
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet (2000) 3.35
Comparative safety of antiepileptic drugs during pregnancy. Neurology (2012) 3.32
Coronary perfusion pressure and the return of spontaneous circulation in human cardiopulmonary resuscitation. JAMA (1990) 3.11
The Smith-Lemli-Opitz syndrome. J Med Genet (2000) 3.05
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet (1993) 2.93
Reporting accuracy among mothers of malformed and nonmalformed infants. Am J Epidemiol (1989) 2.88
Increased rate of major malformations in offspring exposed to valproate during pregnancy. Neurology (2005) 2.80
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Etiologic heterogeneity of neural-tube defects. N Engl J Med (1976) 2.71
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Identification and prevention of a GC content bias in SAGE libraries. Nucleic Acids Res (2001) 2.50
Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy. Lancet (1998) 2.50
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. Eur J Pediatr (1981) 2.50
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) Clin Genet (1990) 2.50
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet (2003) 2.48
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
Deletions within chromosome 22q11 in familial congenital heart disease. Lancet (1992) 2.29
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet (1998) 2.26
Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women. J Pediatr (1999) 2.25
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet (1992) 2.23
Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet (1995) 2.22
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet (1993) 2.21
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet (1997) 2.20
Moderate caffeine use and the risk of spontaneous abortion and intrauterine growth retardation. JAMA (1993) 2.20
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr (1995) 2.19
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
The incidence and significance of birthmarks in a cohort of 4,641 newborns. Pediatr Dermatol (1983) 2.16
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven. Nucleic Acids Res (1986) 2.16
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res (1987) 2.16
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet (1985) 2.14
PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet (2001) 2.14
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet (1991) 2.13
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Television violence--reactions from physicians, advertisers and the networks. N Engl J Med (1977) 2.02
Of fingers, toes and penises. Nature (1997) 2.00
A case of trisomy 9. J Med Genet (1973) 1.99
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
The prenatal detection of significant alcohol exposure with maternal blood markers. J Pediatr (1998) 1.96
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Hum Genet (1977) 1.93
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
Normal values for selected physical parameters: an aid to syndrome delineation. Birth Defects Orig Artic Ser (1974) 1.91
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet (2002) 1.91
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet (2001) 1.88
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88
Acute otitis media in children. Serologic studies and attempts to isolate viruses and mycoplasmas from aspirated middle-ear fluids. N Engl J Med (1967) 1.87
Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med (1989) 1.86
Predictive value of minor anomalies. I. Association with major malformations. J Pediatr (1987) 1.85
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol (1999) 1.84
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet (2001) 1.79
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A (1997) 1.78
Human chromosome fragility. Biochim Biophys Acta (2007) 1.77
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet (1999) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
The effect of standard- and high-dose epinephrine on coronary perfusion pressure during prolonged cardiopulmonary resuscitation. JAMA (1991) 1.74
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74
Vaginal spermicides and congenital disorders. JAMA (1981) 1.74
Molecular cloning and transformation of cyclodiene resistance in Drosophila: an invertebrate gamma-aminobutyric acid subtype A receptor locus. Proc Natl Acad Sci U S A (1991) 1.73
The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser (1975) 1.72
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet (1993) 1.71
Senile External Exudative Macular Retinitis with Remarks on Similar Tumor Formation in a Case of Angioid Streaks. Trans Am Ophthalmol Soc (1924) 1.71
New lethal acrofacial dysostosis syndrome. Am J Med Genet (1991) 1.70
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet (1996) 1.70
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Prospective multicentre study of pregnancy outcome after lithium exposure during first trimester. Lancet (1992) 1.68
Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J (1988) 1.67