In situ hybridization applied to Waardenburg syndrome.

PubWeight™: 0.83‹?›

🔗 View Article (PMID 8449034)

Published in Cytogenet Cell Genet on January 01, 1993

Authors

B L Wu1, A Milunsky, H Wyandt, C Hoth, C Baldwin, J Skare

Author Affiliations

1: Center for Human Genetics, Boston University School of Medicine, MA.

Articles by these authors

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

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

Stability of intelligence from preschool to adolescence: the influence of social and family risk factors. Child Dev (1993) 3.64

Structure and function of herpesvirus genomes. II. EcoRl, Sbal, and HindIII endonuclease cleavage sites on herpes simplex virus. Virology (1977) 3.57

Structure and function of herpesvirus genomes. I. comparison of five HSV-1 and two HSV-2 strains by cleavage their DNA with eco R I restriction endonuclease. J Virol (1975) 3.32

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

Oval Blood Cells in Human Subjects Tested for Linkage with Taste for Ptc, Mid-Digital Hair, Hair Color, a-B Agglutinogens, and Sex. Genetics (1941) 2.99

Cloning and mapping of BamHi endonuclease fragments of DNA from the transforming B95-8 strain of Epstein-Barr virus. Proc Natl Acad Sci U S A (1980) 2.69

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

Transformation by Epstein-Barr virus requires DNA sequences in the region of BamHI fragments Y and H. J Virol (1985) 2.56

Energy expenditure and wasting in human immunodeficiency virus infection. N Engl J Med (1995) 2.50

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

Polymorphisms in FKBP5 are associated with peritraumatic dissociation in medically injured children. Mol Psychiatry (2005) 1.91

Genome-wide association study of Alzheimer's disease. Transl Psychiatry (2012) 1.88

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

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

Prospective analysis of patterns of weight change in stage IV human immunodeficiency virus infection. Am J Clin Nutr (1993) 1.71

Analysis of DNA of defective herpes simplex virus type 1 by restriction endonuclease cleavage and nucleic acid hybridization. Cold Spring Harb Symp Quant Biol (1975) 1.69

Isolation of the outer membranes from Treponema pallidum and Treponema vincentii. J Bacteriol (1994) 1.67

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

Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP) Cancer Genet Cytogenet (1990) 1.58

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

A genome-wide association study of post-traumatic stress disorder identifies the retinoid-related orphan receptor alpha (RORA) gene as a significant risk locus. Mol Psychiatry (2012) 1.55

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

Amino acid sequence of the triple-helical domain of human collagen type VI. J Biol Chem (1988) 1.52

Positive CSF HSV PCR in patients with GBM: a note of caution. Neurology (2000) 1.43

Switching from a PI-based to a PI-sparing regimen for management of metabolic or clinical fat redistribution. AIDS Read (2000) 1.40

Gender dominance in the work setting: implications for dietitians. J Am Diet Assoc (1993) 1.39

Is supplementation with elemental diet feasible in patients undergoing pelvic radiotherapy? Clin Nutr (2005) 1.39

Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn (2001) 1.35

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

Intestinal inflammation, ileal structure and function in HIV. AIDS (1996) 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

Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am J Med Genet (1991) 1.15

Familial partial 14 trisomy. J Med Genet (1979) 1.14

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

Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sample. Am J Med Genet (2001) 1.07

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet (1994) 1.06

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

A single intramuscular dose of ceftriaxone changes nasopharyngeal bacterial flora in children with acute otitis media. Acta Paediatr (2000) 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

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

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

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

The views and practice of oncologists towards nutritional support in patients receiving chemotherapy. Br J Cancer (2006) 1.01

Thymidine kinase in mouse liver: variations in soluble and mitochondrial-associated activity that are dependent on age, regeneration, starvation, and treatment with actinomycin D and puromycin. Dev Biol (1971) 1.00

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

Reversion of the transformed phenotype to the parental phenotype by subcultivation of X-ray-transformed C3H/10T1/2 cells at low cell density. Int J Cancer (1979) 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

Mechanisms of sulphur dioxide induced bronchoconstriction in normal and asthmatic man. Thorax (1982) 0.98

Localization of the leftmost initiation site for T7 late transcription, in vivo and in vitro. Biochemistry (1974) 0.98

Role of nutritional intervention in patients treated with radiotherapy for pelvic malignancy. Br J Cancer (2004) 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 B95-8 isolate of Epstein-Barr virus arose from an isolate with a standard genome. J Virol (1982) 0.96

Outbreak of gastroenteritis caused by Yersinia pestis in Afghanistan. Epidemiol Infect (2010) 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

Symptoms and weight loss in patients with gastrointestinal and lung cancer at presentation. Support Care Cancer (2006) 0.94

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

Effects of growth medium selection on plasmid DNA production and initial processing steps. J Biotechnol (2000) 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

Ovarian teratomas: cytologic data. Cytogenet Cell Genet (1976) 0.94

Genome scan of schizophrenia families in a large Veterans Affairs Cooperative Study sample: evidence for linkage to 18p11.32 and for racial heterogeneity on chromosomes 6 and 14. Am J Med Genet B Neuropsychiatr Genet (2005) 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

A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. Amyloid (1999) 0.92

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

Hazards of amniocentesis. Lancet (1979) 0.92

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

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

Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem (1999) 0.91

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

A 48-week, randomized, open-label comparison of three abacavir-based substitution approaches in the management of dyslipidemia and peripheral lipoatrophy. J Acquir Immune Defic Syndr (2003) 0.91

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

Dietary advice with or without pravastatin for the management of hypercholesterolaemia associated with protease inhibitor therapy. AIDS (2001) 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

A modified sedimentation method for counting platelets in blood. Br J Haematol (1978) 0.90

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

Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology (1996) 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