Published in Prenat Diagn on April 01, 1992
Attitudes towards Down's syndrome: follow up of a cohort of 280 cases. J Med Genet (1995) 0.83
Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France. J Epidemiol Community Health (1994) 0.75
Prenatal Detection of Upper Limb Differences With Obstetric Ultrasound. J Hand Surg Am (2015) 0.75
Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. Am J Med Genet (1994) 2.40
Familial empirical risks for inflammatory bowel disease: differences between Jews and non-Jews. Gut (1993) 2.35
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03
Constrictive pericarditis and restrictive cardiomyopathy: evaluation with MR imaging. Radiology (1992) 1.77
Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet (1992) 1.55
Associated malformations in cases with oral clefts. Cleft Palate Craniofac J (2000) 1.47
Birth prevalence rates of skeletal dysplasias. Clin Genet (1989) 1.43
Study of Down syndrome in 238,942 consecutive births. Ann Genet (1998) 1.43
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet (2006) 1.42
The lateral ankle index: its usefulness in detecting lateral malleolar fractures. AJR Am J Roentgenol (1989) 1.39
Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases. Prenat Diagn (2013) 1.39
Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22. Genet Couns (1997) 1.38
Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ (2003) 1.38
Segregation of a 22 ring chromosome in three generations. Hum Genet (1983) 1.36
Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). J Med Genet (1980) 1.26
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. J Dent Res (2008) 1.20
Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics (1997) 1.20
Acid reflux event detection using the Bravo wireless versus the Slimline catheter pH systems: why are the numbers so different? Gut (2005) 1.19
Duodenal mRNA expression of iron related genes in response to iron loading and iron deficiency in four strains of mice. Gut (2002) 1.19
Linkage analysis suggests at least two loci for X-linked non-specific mental retardation. Am J Med Genet (1988) 1.18
Associated malformations in patients with anorectal anomalies. Eur J Med Genet (2007) 1.12
Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet (2005) 1.10
Familial coarctation of the aorta in three generations. Ann Genet (1999) 1.08
Congenital eye malformations in 212,479 consecutive births. Ann Genet (1997) 1.08
Genetic marker associations with proliferative retinopathy in persons diagnosed with diabetes before 30 yr of age. Diabetes (1992) 1.08
Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl (1990) 1.02
Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. Hum Genet (1989) 1.01
Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet (1988) 1.01
Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births. Ann Genet (2001) 1.00
Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France. J Med Genet (1991) 1.00
Risk factors for gallstone formation during rapid loss of weight. Dig Dis Sci (1992) 0.99
A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother. Clin Genet (1985) 0.97
Genetic and environmental factors in hypospadias. J Med Genet (1990) 0.96
Risk factors in congenital heart disease. Eur J Epidemiol (1989) 0.93
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet (2010) 0.92
Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet (1985) 0.92
Growth curves of children with Down syndrome. Ann Genet (1999) 0.89
Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias. Eur J Epidemiol (1996) 0.87
Evaluation of prenatal diagnosis of congenital heart disease. Prenat Diagn (1998) 0.87
Evaluation of prenatal diagnosis of congenital heart disease. Prenat Diagn (1993) 0.86
Associated malformations in cases with congenital diaphragmatic hernia. Genet Couns (2008) 0.86
Prevalence of neural tube defects in northeastern France, 1979-1992 impact of prenatal diagnosis. Ann Genet (1995) 0.85
[Anomalies of thyroid function in children with Down syndrome]. Arch Pediatr (1997) 0.85
Depression predicts self-reported disease activity in systemic lupus erythematosus. Lupus (2010) 0.85
Paternal age and Down's syndrome diagnosed prenatally: no association in French data. Prenat Diagn (1983) 0.83
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium. Nat Genet (1999) 0.83
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker. Hum Genet (1988) 0.83
Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet (2002) 0.83
MR imaging in the evaluation of benign uterine masses: value of gadopentetate dimeglumine-enhanced T1-weighted images. AJR Am J Roentgenol (1992) 0.83
Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome? Am J Med Genet (1992) 0.83
An epidemiologic study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol (1992) 0.82
Risk factors in congenital anal atresias. Ann Genet (1997) 0.82
Landau-Kleffner syndrome: a pharmacologic study of five cases. Epilepsia (1991) 0.82
Rett-like syndrome in fragile X syndrome. Genet Couns (1995) 0.82
Familial cylindromatosis. Genet Couns (2004) 0.82