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Literature DB >> 9106550

Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.

A L Boehmer, A O Brinkmann, M F Niermeijer, L Bakker, D J Halley, S L Drop.

Abstract

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Year: 1997 PMID： 9106550 PMCID： PMC1712473

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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21 in total

1. Trinucleotide repeat polymorphism in the androgen receptor gene (AR).

Authors: H F Sleddens; B A Oostra; A O Brinkmann; J Trapman
Journal: Nucleic Acids Res Date: 1992-03-25 Impact factor: 16.971

2. Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

Authors: L Prior; S Bordet; M A Trifiro; A Mhatre; M Kaufman; L Pinsky; K Wrogeman; D D Belsham; F Pereira; C Greenberg
Journal: Am J Hum Genet Date: 1992-07 Impact factor: 11.025

3. Molecular analysis of hemophilia A mutations in the Finnish population.

Authors: B Levinson; A E Lehesjoki; A de la Chapelle; J Gitschier
Journal: Am J Hum Genet Date: 1990-01 Impact factor: 11.025

4. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors: P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal: Am J Hum Genet Date: 1988-02 Impact factor: 11.025

5. The N-terminal domain of the human androgen receptor is encoded by one, large exon.

Authors: P W Faber; G G Kuiper; H C van Rooij; J A van der Korput; A O Brinkmann; J Trapman
Journal: Mol Cell Endocrinol Date: 1989-02 Impact factor: 4.102

6. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism.

Authors: C J Brown; S J Goss; D B Lubahn; D R Joseph; E M Wilson; F S French; H F Willard
Journal: Am J Hum Genet Date: 1989-02 Impact factor: 11.025

7. Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

Authors: C L Bevan; B B Brown; H R Davies; B A Evans; I A Hughes; M N Patterson
Journal: Hum Mol Genet Date: 1996-02 Impact factor: 6.150

8. Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene.

Authors: J M Lobaccaro; S Lumbroso; F C Pigeon; J L Chaussain; J E Toublanc; J C Job; G Olewniczack; P Boulot; C Sultan
Journal: J Steroid Biochem Mol Biol Date: 1992-12 Impact factor: 4.292

9. Germline mosaicism and Duchenne muscular dystrophy mutations.

Authors: E Bakker; C Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; W Van Hul; G J Van Ommen; A Vandenberghe; P L Pearson
Journal: Nature Date: 1987 Oct 8-14 Impact factor: 49.962

10. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Authors: D H Cohn; B J Starman; B Blumberg; P H Byers
Journal: Am J Hum Genet Date: 1990-03 Impact factor: 11.025

4 in total

1. Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.

Authors: H T Brüggenwirth; A L Boehmer; S Ramnarain; M C Verleun-Mooijman; D P Satijn; J Trapman; J A Grootegoed; A O Brinkmann
Journal: Am J Hum Genet Date: 1997-11 Impact factor: 11.025