Published in Genet Couns on January 01, 1998
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Ultrasonography (2015) 0.75
Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. Br J Cancer (2001) 5.36
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
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Diagnostic value of an immunoassay to detect anti Campylobacter pylori antibodies in non-ulcer dyspepsia. Lancet (1989) 3.03
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Glutamine and the preservation of gut integrity. Lancet (1993) 2.72
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 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
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36
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
Prognostic significance of radial margins of clearance in rectal cancer. Br J Surg (1996) 2.15
A large non-immunized human Fab fragment phage library that permits rapid isolation and kinetic analysis of high affinity antibodies. J Biol Chem (1999) 2.15
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
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. J Med Genet (1988) 2.08
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
Differential features of gastric cancer patients, either Helicobacter pylori positive or Helicobacter pylori negative. Ital J Gastroenterol Hepatol (1999) 2.02
Helicobacter pylori and gastric carcinoma. Histopathology (1990) 1.98
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
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88
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
Proliferating cell nuclear antigen (PCNA): a new marker to study human colonic cell proliferation. Gut (1994) 1.82
Antibody phage display technology and its applications. Immunotechnology (1998) 1.79
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
A multivariate analysis of pathologic prognostic indicators in large bowel cancer. Cancer (1988) 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
Interstitial collagen is increased in the non-infarcted human myocardium after myocardial infarction. J Mol Cell Cardiol (1993) 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
EB/RP gene family encodes tubulin binding proteins. Int J Cancer (1999) 1.63
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
The development of the intrahepatic bile ducts in man: a keratin-immunohistochemical study. Hepatology (1988) 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
Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod (2004) 1.53
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
Classification of gastric carcinoma using the Goseki system provides prognostic information additional to TNM staging. Cancer (1999) 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
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47
Selective advantage of fra (X) heterozygotes. Hum Genet (1990) 1.47
Pulmonary sequestration: a comparison between pediatric and adult patients. Eur J Cardiothorac Surg (2001) 1.46
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns (2001) 1.45
Cowden syndrome. J Med Genet (1995) 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
The prevalence of Helicobacter pylori serum antibodies in children with recurrent abdominal pain. Eur J Pediatr (1992) 1.44
Partitioning of pulmonary impedance in excised human and canine lungs. J Appl Physiol Respir Environ Exerc Physiol (1983) 1.44
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
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns (1992) 1.40
Tumoral calcinosis. AJR Am J Roentgenol (1996) 1.40
Symbrachydactyly involving hands and feet. Genet Couns (1998) 1.40
Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome. Clin Genet (1985) 1.40
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers. Clin Genet (1990) 1.40
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. Genet Couns (1993) 1.40
Tenascin and fibronectin expression in healing human myocardial scars. J Pathol (1996) 1.40
Early development (5 to 48 months) in Williams syndrome. A study of 14 children. Genet Couns (1999) 1.39
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet (2005) 1.39
A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia. Genet Couns (1995) 1.39
The Coffin syndrome. Hum Genet (1977) 1.38
On the familial occurrence of congenital bilateral absence of vas deferens. Clin Genet (1989) 1.38
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet (1987) 1.37
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns (1999) 1.36
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 1.36
Predictors for neoplastic progression in patients with Barrett's Esophagus: a prospective cohort study. Am J Gastroenterol (2011) 1.36
Adenoid cystic carcinoma arising in an adenomyoepithelioma of the breast. Virchows Arch (1998) 1.34
Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet (1978) 1.34
Anomalous cerebral venous drainage in Aarskog syndrome. Clin Genet (1984) 1.34
The Brachmann-de Lange syndrome in two siblings of normal parents. Clin Genet (1987) 1.32
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik (1973) 1.30
A profile of differentially expressed genes in primary colorectal cancer using suppression subtractive hybridization. FEBS Lett (1999) 1.30
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity. Clin Genet (1987) 1.30
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A (2003) 1.30
Efforts to improve interobserver agreement in histopathological grading. J Clin Epidemiol (1995) 1.30
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet (1992) 1.28
X-linked neuropathy: gene localization with DNA probes. Ann Neurol (1986) 1.27
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet (1985) 1.27
Type IV collagen immunoreactivity in colorectal cancer. Prognostic value of basement membrane deposition. Cancer (1988) 1.26