Literature DB >> 14172277

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

V A MCKUSICK, R L BAUER, C E KOOP, R B SCOTT.   

Abstract

Keywords:  ABNORMALITIES; CHILD; CONSANGUINITY; GENETICS, HUMAN; UTERUS; VAGINA

Mesh：

Year:  1964        PMID： 14172277     DOI： 10.1001/jama.1964.03070110015003

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  22 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  Pediatr Cardiol       Date:  1997 Jan-Feb       Impact factor: 1.655

3.  Neonatal hydrometrocolpos associated with McKusick Kaufman syndrome.

Authors:  M Rohatgi; D K Gupta; M Luthra
Journal:  Indian J Pediatr       Date:  1989 May-Jun       Impact factor: 1.967

4.  The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

5.  Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.

Authors:  M Haspeslagh; J P Fryns; K Van den Berghe; P Goddeeris; J Lauweryns; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

6.  Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

Authors:  Tomohiko Yamamura; Naoya Morisada; Kandai Nozu; Shogo Minamikawa; Shingo Ishimori; Daisaku Toyoshima; Takeshi Ninchoji; Masato Yasui; Mariko Taniguchi-Ikeda; Ichiro Morioka; Koichi Nakanishi; Hisahide Nishio; Kazumoto Iijima
Journal:  Clin Exp Nephrol       Date:  2016-03-11       Impact factor: 2.801

7.  Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Authors:  Ozanna Burnicka-Turek; Jeffrey D Steimle; Wenhui Huang; Lindsay Felker; Anna Kamp; Junghun Kweon; Michael Peterson; Roger H Reeves; Cheryl L Maslen; Peter J Gruber; Xinan H Yang; Jay Shendure; Ivan P Moskowitz
Journal:  Hum Mol Genet       Date:  2016-06-23       Impact factor: 6.150

8.  Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.

Authors:  T Goecke; R Dopfer; R Huenges; W Conzelmann; A Feller; F Majewski
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

9.  MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

Authors:  Shoshiro Hirayama; Yuji Yamazaki; Akira Kitamura; Yukako Oda; Daisuke Morito; Katsuya Okawa; Hiroshi Kimura; Douglas M Cyr; Hiroshi Kubota; Kazuhiro Nagata
Journal:  Mol Biol Cell       Date:  2007-12-19       Impact factor: 4.138

10.  Hydrocolpos with peritonitis in the newborn.

Authors:  I Gupta; A J Barson
Journal:  J Clin Pathol       Date:  1980-07       Impact factor: 3.411
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