Published in J Med Genet on April 01, 1997
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
Clonal analysis using recombinant DNA probes from the X-chromosome. Cancer Res (1987) 4.25
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics (1992) 1.82
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet (1992) 1.50
The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet (1994) 1.36
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet (1995) 1.22
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet (1992) 1.10
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn (1996) 1.01
Uniparental disomy revisited: the first twelve years. Am J Med Genet (1993) 0.99
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet (1996) 0.97
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet (1995) 0.96
Increased parental ages and uniparental disomy 15: a paternal age effect? Eur J Hum Genet (1993) 0.90
Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn (1994) 0.85
A case of paternal uniparental disomy for chromosome 11. Prenat Diagn (1995) 0.83
A specific phenotype associated with trisomy 15 mosaicism. Ann Genet (1993) 0.82
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet (1996) 0.81
A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. J Med Genet (1992) 0.79
Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth. Prenat Diagn (1993) 0.77
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
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int (2006) 2.85
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest (1998) 2.68
Developmental changes in heparan sulfate expression: in situ detection with mAbs. J Cell Biol (1992) 2.61
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
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
Primary amines inhibit recycling of alpha 2M receptors in fibroblasts. Cell (1980) 2.40
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J Med Genet (1990) 2.30
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet (1997) 2.30
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet (1997) 2.20
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet (2001) 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
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene (1999) 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
Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features. Blood (1996) 2.02
Erythromycin is a motilin receptor agonist. Am J Physiol (1989) 2.00
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
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
Molecular cloning of a phosphatidylinositol-anchored membrane heparan sulfate proteoglycan from human lung fibroblasts. J Cell Biol (1990) 1.88
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
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
Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart (2010) 1.82
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79
Human chromosome fragility. Biochim Biophys Acta (2007) 1.77
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology (2011) 1.72
New lethal acrofacial dysostosis syndrome. Am J Med Genet (1991) 1.70
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 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
Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66
Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet (1992) 1.65
Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet (2003) 1.62
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62
Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol (1995) 1.59
Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
The XYY syndrome: a follow-up study on 38 boys. Genet Couns (2003) 1.55
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet (2004) 1.55
Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet (1996) 1.54
Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle. J Gen Physiol (1988) 1.53
Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod (2004) 1.53
Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology (1997) 1.52
Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells. J Cell Biol (1992) 1.51
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (2000) 1.49
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am J Med Genet (1987) 1.49
Multiple distinct membrane heparan sulfate proteoglycans in human lung fibroblasts. J Biol Chem (1989) 1.48
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood (2001) 1.47
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47
D-penicillamine-induced IgA deficiency in Wilson's disease. Lancet (1976) 1.47
Selective advantage of fra (X) heterozygotes. Hum Genet (1990) 1.47
Philadelphia chromosome-positive chronic myelogenous leukemia in treated Hodgkin's disease. Cancer Genet Cytogenet (1990) 1.45
Cowden syndrome. J Med Genet (1995) 1.45
Demonstration of an alpha2-macroglobulin receptor in human fibroblasts, absent in tumor-derived cell lines. J Biol Chem (1979) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44
Human complement factor H deficiency associated with hemolytic uremic syndrome. J Am Soc Nephrol (1998) 1.43
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet (2005) 1.43
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. Genet Couns (1998) 1.43
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet (1994) 1.43
t(1;19) without detectable E2A rearrangements in two t(14;18)-positive lymphoma/leukemia cases. Genes Chromosomes Cancer (1994) 1.41
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer (2006) 1.41
Symbrachydactyly involving hands and feet. Genet Couns (1998) 1.40