Literature DB >> 3762643

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.

J Fox, A M Hack, W A Fenton, M S Golbus, S Winter, F Kalousek, R Rozen, S W Brusilow, L E Rosenberg.   

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Year:  1986        PMID： 3762643     DOI： 10.1056/NEJM198611063151907

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

Review 1.  Fetal drug metabolism and its possible clinical implications.

Authors:  B Krauer; P Dayer
Journal:  Clin Pharmacokinet       Date:  1991-07       Impact factor: 6.447

Review 2.  Prenatal diagnosis of enzyme defects.

Authors:  B Winchester
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

3.  Fetal tissue sampling. The San Francisco experience with 190 pregnancies.

Authors:  M S Golbus; K F McGonigle; J D Goldberg; R A Filly; P W Callen; R L Anderson
Journal:  West J Med       Date:  1989-04

4.  DNA analysis of ornithine transcarbamylase deficiency.

Authors:  U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

5.  Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.

Authors:  N T Bech-Hansen; W G Pearce
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

Review 6.  Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Authors:  C Cadrin; M S Golbus
Journal:  West J Med       Date:  1993-09

7.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

Review 8.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Authors:  A Maddalena; J E Spence; W E O'Brien; R L Nussbaum
Journal:  J Clin Invest       Date:  1988-10       Impact factor: 14.808

10.  Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.

Authors:  G de Saint-Basile; M C Bohler; A Fischer; J Cartron; J L Dufier; C Griscelli; S H Orkin
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132
  10 in total

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