Literature DB >> 7389742

Congenital adrenal hyperplasia associated with a balanced 13--18 translocation.

F Petersen, F U Knudsen, M D Nielsen, M Mikkelsen.   

Abstract

A newborn infant was found to have salt-losing adrenal hyperplasia, ambiguous genitalia, and a balanced translocation between 13q and 18p. The simultaneous occurrence of the two defects is probably coincidental.

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Year:  1980        PMID： 7389742     DOI： 10.1007/bf00496091

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  Urinary excretion of different corticosteroid-metabolites in oral contraception and pregnancy.

Authors:  M D Nielsen; C Binder; J Starup
Journal:  Acta Endocrinol (Copenh)       Date:  1969-03

2.  HLA typing of amniotic-fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia.

Authors:  P Couillin; H Nicolas; J Boué; A Boué
Journal:  Lancet       Date:  1979-05-19       Impact factor: 79.321

3.  Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.

Authors:  L S Levine; M Zachmann; M I New; A Prader; M S Pollack; G J O'Neill; S Y Yang; S E Oberfield; B Dupont
Journal:  N Engl J Med       Date:  1978-10-26       Impact factor: 91.245

4.  Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.

Authors:  M S Pollack; D Maurer; L S Levine; M I New; S Pang; M Duchon; R P Owens; I R Merkatz; B M Nitowsky; G Sachs; B Dupont
Journal:  Lancet       Date:  1979-05-26       Impact factor: 79.321

5.  Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

Authors:  B Dupont; S E Oberfield; E M Smithwick; T D Lee; L S Levine
Journal:  Lancet       Date:  1977 Dec 24-31       Impact factor: 79.321

6.  [The frequency of congenital adrenal hyperplasia (cah) in Munich (author's transl)].

Authors:  I Mauthe; D Laspe Knorr
Journal:  Klin Padiatr       Date:  1977-03       Impact factor: 1.349
  6 in total
  1 in total

1.  Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Authors:  M Bugge; G Bruun-Petersen; K Brøndum-Nielsen; U Friedrich; J Hansen; G Jensen; P K Jensen; U Kristoffersson; C Lundsteen; E Niebuhr; K R Rasmussen; K Rasmussen; N Tommerup
Journal:  J Med Genet       Date:  2000-11       Impact factor: 6.318
  1 in total

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