Published in Lancet on September 13, 1975
Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet (1978) 1.01
Alphafetoprotein and neural tube defects. J Clin Pathol Suppl (R Coll Pathol) (1976) 0.76
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
The neonatal blood count in health and disease. I. Reference values for neutrophilic cells. J Pediatr (1979) 2.98
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol (1981) 2.64
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
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. N Engl J Med (1974) 2.27
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
The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr (1976) 2.04
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med (1976) 1.81
Duty to re-contact. Genet Med (2001) 1.80
Verification of the fetal valproate syndrome phenotype. Am J Med Genet (1988) 1.71
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
Primary hepatic tumors of childhood. Hum Pathol (1983) 1.48
Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. N Engl J Med (1974) 1.48
The differential leukocyte count in the assessment and outcome of early-onset neonatal group B streptococcal disease. J Pediatr (1977) 1.42
Tumor necrosis factor alpha in the pathophysiology of necrotizing enterocolitis. Gastroenterology (1991) 1.39
Cellular localization of the folate receptor: potential role in drug toxicity and folate homeostasis. Cancer Res (1992) 1.38
Precursor B-cell lymphoblastic lymphoma. A study of nine cases lacking blood and bone marrow involvement and review of the literature. Am J Clin Pathol (2001) 1.36
del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet (1986) 1.35
Loss of p16(INK4a) expression correlates with decreased survival in pediatric osteosarcomas. Int J Cancer (2001) 1.30
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
Homozygous familial hypercholesterolemia: specificity of the biochemical defect in cultured cells and feasibility of prenatal detection. Am J Hum Genet (1974) 1.21
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I. Clin Genet (1976) 1.20
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 quantitative evaluation of mucosal eosinophils in the pediatric gastrointestinal tract. Mod Pathol (1996) 1.16
Further delineation of Weaver syndrome. J Pediatr (1986) 1.15
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Plesiomonas (Aeromonas) shigelloides septicemia and meningitis in a neonate. South Med J (1980) 1.10
Cerebellar hypoplasia in Werdnig-Hoffmann disease. Dev Med Child Neurol (1975) 1.10
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
Cytomegalovirus and human herpesvirus 6, but not human papillomavirus, are present in neonatal giant cell hepatitis and extrahepatic biliary atresia. Pediatr Dev Pathol (2000) 1.06
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet (1987) 1.06
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Sickle cell dactylitis: histopathologic observations. Am J Clin Pathol (1972) 1.04
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
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
Renal angiomyolipomas and HMB-45 reactivity. Cancer (1993) 1.01
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Isolated infundibuloarterial inversion (S,D,I): a newly recognized form of congenital heart disease. Am Heart J (1988) 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
Polyarteritis in children. Am J Dis Child (1976) 0.98
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97
Duplication 12q mosaicism in two unrelated patients with a similar syndrome. Am J Med Genet (1980) 0.97
Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95
Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 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
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. J Pediatr (1971) 0.93
Sternal malformation/vascular dysplasia association. Am J Med Genet (1985) 0.93
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
Ring 17 chromosome detected by amniocentesis. Humangenetik (1975) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
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
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
Hirschsprung's disease - a pathologist's view. Perspect Pediatr Pathol (1975) 0.90
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
Amplification of the HER-2/neu oncogene is uncommon in pediatric osteosarcomas. Cancer (2001) 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
Familial absorptive hypercalciuria in a large kindred. J Urol (1981) 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
Neonatal blood cell count in health and disease. II. Values for lymphocytes, monocytes, and eosinophils. J Pediatr (1985) 0.88
Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations. J Pediatr (1978) 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
Hirschsprung's disease and congenital deafness. Familial assocation. Hum Genet (1977) 0.88
Aberrant expression of tumor suppressor proteins in the Ewing family of tumors. Arch Pathol Lab Med (2001) 0.88
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88
Anatomic correlates of ultrasonographic prenatal diagnosis. Prenat Diagn (1986) 0.87
Subcutaneous granuloma annulare: a review of 47 cases. Pediatrics (1997) 0.87