Literature DB >> 10450870

Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46,XX,t(8;13)(q22.1;q32.1) translocation.

L Amesse, F F Yen, B Weisskopf, S P Hertweck.   

Abstract

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Year:  1999        PMID： 10450870     DOI： 10.1034/j.1399-0004.1999.550617.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Keiko Watanabe; Yusuke Kobayashi; Kouji Banno; Yusuke Matoba; Haruko Kunitomi; Kanako Nakamura; Masataka Adachi; Kiyoko Umene; Iori Kisu; Eiichiro Tominaga; Daisuke Aoki
Journal:  Biomed Rep       Date:  2017-06-21

2.  A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.

Authors:  Lacey S Williams; Hyung-Goo Kim; Vera M Kalscheuer; J Matthew Tuck; Lynn P Chorich; Megan E Sullivan; Allison Falkenstrom; Richard H Reindollar; Lawrence C Layman
Journal:  Mol Cytogenet       Date:  2016-07-30       Impact factor: 2.009

3.  Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Authors:  Durkadin Demir Eksi; Yiping Shen; Munire Erman; Lynn P Chorich; Megan E Sullivan; Meric Bilekdemir; Elanur Yılmaz; Guven Luleci; Hyung-Goo Kim; Ozgul M Alper; Lawrence C Layman
Journal:  Mol Cytogenet       Date:  2018-02-03       Impact factor: 2.009
  3 in total

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