Published in Am J Hum Genet on July 01, 1999
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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 1.36
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet (2002) 1.26
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet (2002) 1.08
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Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet (2004) 0.87
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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
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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
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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
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
PTPN11 mutations in LEOPARD syndrome. J Med Genet (2002) 1.91
Transapical left ventricular access for difficult to reach interventional targets in the left heart. Catheter Cardiovasc Interv (2009) 1.89
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
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet (2000) 1.86
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
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta (1984) 1.83
Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart (2010) 1.82
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
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology (2008) 1.78
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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
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
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord (2010) 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
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet (1984) 1.61
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (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
Effect of percutaneous fenestration of the atrial septum on protein-losing enteropathy after the Fontan operation. Br Heart J (1994) 1.58
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
Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res (1995) 1.52
ALCAPA syndrome: an example of chronic myocardial hypoperfusion? J Am Coll Cardiol (1994) 1.52
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet (2005) 1.52
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology (2012) 1.52
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Vigabatrin in GABA metabolism disorders. Lancet (1989) 1.51
Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50
Inherited disorders of GABA metabolism. J Inherit Metab Dis (1993) 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
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet (1992) 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
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
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example. Ann Genet (1989) 1.46
Cowden syndrome. J Med Genet (1995) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
Cardiorespiratory exercise function after the arterial switch operation for transposition of the great arteries. Eur Heart J (2001) 1.44
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44
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