Genetics, law and obstetric practice.

Ethical dilemmas in clinical genetics. J Med Ethics (1984) 0.83

Examination of products of conception terminated after prenatal investigation. J Clin Pathol (1986) 0.75

Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53

Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67

Maternal serum AFP secreening. N Engl J Med (1978) 3.17

Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63

Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29

Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol (1977) 2.24

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11

Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00

Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82

Duty to re-contact. Genet Med (2001) 1.80

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64

Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57

Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52

A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29

Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25

Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16

Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16

A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11

Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09

The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08

Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07

High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05

Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04

Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03

A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02

Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02

First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00

Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98

Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98

Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97

Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96

Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 0.95

The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95

Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94

Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94

The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92

Hazards of amniocentesis. Lancet (1979) 0.92

Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92

Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91

Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91

The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91

Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90

Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90

Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88

Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod (1995) 0.88

Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet (1975) 0.88

Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet (1989) 0.88

Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88

Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet (1999) 0.86

The Hunter syndrome in a 46 XX girl. N Engl J Med (1973) 0.85

Interstitial deletion involving most of Yq. Am J Med Genet (1990) 0.85

Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. Cancer Genet Cytogenet (1992) 0.84

Tetraploidy in amniotic-fluid cells. Lancet (1970) 0.84

The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Biochem J (2001) 0.84

Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet (1989) 0.84

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet (1995) 0.83

Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women. Am J Obstet Gynecol (1982) 0.83

Glucose intolerance in the parents of children with Down's syndrome. Am J Ment Defic (1970) 0.83

In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet (1993) 0.83

Prenatal detection of neural tube defects: false positive and negative results. Pediatrics (1977) 0.83

Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta (2001) 0.82

Cystic fibrosis and Down's syndrome. Pediatrics (1968) 0.82

Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest (1996) 0.82

Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet (1989) 0.82

Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin Genet (1980) 0.81

A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics (1992) 0.81

Prenatal genetic diagnosis. 3. N Engl J Med (1970) 0.81

Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. Am J Med Genet (1989) 0.81

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet (1996) 0.81

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet (2011) 0.81

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin Genet (1995) 0.81

High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics (1993) 0.81

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet (2007) 0.81

First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn (1990) 0.81

Abnormal copper metabolism in Menke's steely-hair syndrome. Pediatr Res (1979) 0.81

Letter: Prenatal diagnois of chromosomal mosaicism. J Pediatr (1976) 0.81

Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis. Am J Dis Child (1971) 0.80

Prenatal diagnosis of neural tube defects. IV. Maternal serum alpha-fetoprotein screening. Obstet Gynecol (1980) 0.80

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet (1992) 0.80

Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. J Med Genet (2002) 0.80

Ovulation induction and neural tube defects. Teratology (1990) 0.80

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Clin Genet (2004) 0.79

Prenatal diagnosis of genetic abnormalities. Clin Perinatol (1974) 0.79

Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event. Cancer Genet Cytogenet (1992) 0.79

Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies. JAMA (1980) 0.79

Gm2-gangliosidosis: studies in cultured fibroblasts. Birth Defects Orig Artic Ser (1973) 0.79

Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy. Am J Obstet Gynecol (1974) 0.78

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. Am J Hum Genet (1991) 0.78

Partial duplication of Xp: a case report and review of previously reported cases. Am J Med Genet (1991) 0.78

Otopathology in a case of type I Waardenburg's syndrome. Ann Otol Rhinol Laryngol (2001) 0.78