Published in Hum Reprod on July 01, 1995
The epidemiology and etiology of azoospermia. Clinics (Sao Paulo) (2013) 1.04
Cystic dysplasia of the epididymis: a disorder of mesonephric differentiation associated with renal maldevelopment. Virchows Arch (2010) 0.84
Unilateral absence of vas deferens: prevalence among 23.013 men seeking vasectomy. Int Braz J Urol (2016) 0.78
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. Asian J Androl (2010) 0.78
Disorders of ejaculation. Ann R Coll Surg Engl (1999) 0.75
R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series. J Med Case Rep (2017) 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
Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis. J Pediatr (1987) 1.63
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
Postchemotherapy ejaculatory azoospermia: fatherhood with sperm from testis tissue with intracytoplasmic sperm injection. J Clin Oncol (2002) 1.49
Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes. Chest (2000) 1.48
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
Delayed appearance of sperm after end-to-side vasoepididymostomy. J Urol (1995) 1.18
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
Standardization of PCR amplification for fragile X trinucleotide repeat measurements. Clin Genet (2002) 1.15
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
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet (1991) 1.06
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
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
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
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
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
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Male infertility: role of transrectal US in diagnosis and management. Radiology (1992) 0.92
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Bilateral crossed testicular ectopia with unilateral absence of the vas deferens: a possible case and hypothetical mechanism. Br J Urol (1998) 0.89
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
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
The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl (1994) 0.87
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Am J Hum Genet (1988) 0.87
Genetics, law and obstetric practice. Br J Obstet Gynaecol (1983) 0.86
46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies. Am J Med Genet (1993) 0.86
Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet (1999) 0.86
Interstitial deletion involving most of Yq. Am J Med Genet (1990) 0.85
The Hunter syndrome in a 46 XX girl. N Engl J Med (1973) 0.85
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
Tetraploidy in amniotic-fluid cells. Lancet (1970) 0.84
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
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
In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet (1993) 0.83
Presence of mature sperm in testicular parenchyma of men with nonobstructive azoospermia: prevalence and predictive factors. Urology (1997) 0.83
Prenatal detection of neural tube defects: false positive and negative results. Pediatrics (1977) 0.83
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
Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. World J Urol (1993) 0.83
Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet (1989) 0.82
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest (1996) 0.82
Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta (2001) 0.82
Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. Biochim Biophys Acta (1984) 0.82
Vibratory stimulation and rectal probe electroejaculation as therapy for patients with spinal cord injury: semen parameters and pregnancy rates. J Urol (1996) 0.82
Cystic fibrosis and Down's syndrome. Pediatrics (1968) 0.82
A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics (1992) 0.81
Fertility and the use of assisted reproductive techniques in the adult male exstrophy/epispadias patient. Fertil Steril (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
High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics (1993) 0.81