Published in Am J Med Genet on May 15, 2001
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet (2002) 2.33
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet (2001) 2.28
Hereditary paraganglioma targets diverse paraganglia. J Med Genet (2002) 1.57
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet (2003) 1.48
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med (2009) 1.47
Rethinking pheochromocytomas and paragangliomas from a genomic perspective. Oncogene (2015) 0.83
Structural basis for malfunction in complex II. J Biol Chem (2012) 0.82
Mutations of the SDHB and SDHD genes. Fam Cancer (2005) 0.80
Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation. Eur J Pediatr (2004) 0.76
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. Hered Cancer Clin Pract (2016) 0.75
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res (1998) 3.36
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop. Am J Cardiol (1992) 3.03
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
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
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet (1991) 1.94
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol (2001) 1.92
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
Duty to re-contact. Genet Med (2001) 1.80
Familial aneurysmal subarachnoid hemorrhage: a community-based study. J Neurosurg (1995) 1.68
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
Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr (1990) 1.53
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
Neurovascular manifestations of heritable connective tissue disorders. A review. Stroke (1994) 1.49
Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes. Chest (2000) 1.48
LADD syndrome is caused by FGF10 mutations. Clin Genet (2006) 1.33
The genomic organization of human dystrobrevin. Neurogenetics (1997) 1.29
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
Genetic determination of plasma apolipoprotein AI in a population-based sample. Am J Hum Genet (1989) 1.29
Distribution of sodium-lithium countertransport and blood pressure in Caucasians five to eighty-nine years of age. Hypertension (1989) 1.28
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr (1980) 1.27
Physical mapping of a translocation breakpoint in neurofibromatosis. Science (1989) 1.27
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
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet (2000) 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
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
Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet (1992) 1.15
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet (1999) 1.13
Familial paragangliomas of the head and neck. Arch Otolaryngol Head Neck Surg (1994) 1.12
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
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet (1995) 1.10
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet (1987) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet (2008) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet (1996) 1.07
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol (1984) 1.05
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Familial aggregation of idiopathic dilated cardiomyopathy. Am J Cardiol (1985) 1.03
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr (1978) 1.03
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. Mayo Clin Proc (1998) 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
Heritable connective tissue disorders in cervical artery dissections: a prospective study. Neurology (1998) 1.01
Chromosome translocations in couples with multiple spontaneous abortions. Am J Hum Genet (1982) 1.01
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med (2001) 1.00
Autosomal dominant supravalvular aortic stenosis: large three-generation family. Am J Med Genet (1989) 0.99
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Arginase deficiency in multiple tissues in argininemia. Clin Genet (1978) 0.98
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet (1985) 0.98
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet (1998) 0.98
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet (1993) 0.97
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 autoimmune basis of dilated cardiomyopathy. Ann Med (1995) 0.95
Familial association of intracranial aneurysms and cervical artery dissections. Stroke (1991) 0.95
Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol (1986) 0.95
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
Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. J Am Coll Cardiol (1989) 0.94
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94
Familial dilated cardiomyopathy. Am J Med Genet (1988) 0.94
Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics (1992) 0.93
Brief report: a familial syndrome of arterial dissections with lentiginosis. N Engl J Med (1995) 0.93
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr (1999) 0.93
Levels of lipids, lipoproteins, and apolipoproteins in a defined population. Mayo Clin Proc (1991) 0.93
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet (1996) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Occurrence of congenital heart defects in siblings of patients with univentricular heart and tricuspid atresia. Am J Cardiol (1989) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. Clin Genet (2008) 0.92
On the inheritance of intracranial aneurysms. Stroke (1994) 0.91
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91