Literature DB >> 448491

The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.

M Robinow, A Shaw.   

Abstract

Entities:  

Mesh：

Year:  1979        PMID： 448491     DOI： 10.1016/s0022-3476(79)80155-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  7 in total

1.  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

2.  Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Authors:  Darryl Y Nishimura; Melissa Fath; Robert F Mullins; Charles Searby; Michael Andrews; Roger Davis; Jeaneen L Andorf; Kirk Mykytyn; Ruth E Swiderski; Baoli Yang; Rivka Carmi; Edwin M Stone; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2004-11-11       Impact factor: 11.205

3.  Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

Authors:  A David; P Bitoun; D Lacombe; J C Lambert; A Nivelon; J Vigneron; A Verloes
Journal:  J Med Genet       Date:  1999-08       Impact factor: 6.318

4.  Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Authors:  Annie P Chiang; Darryl Nishimura; Charles Searby; Khalil Elbedour; Rivka Carmi; Amanda L Ferguson; Jenifer Secrist; Terry Braun; Thomas Casavant; Edwin M Stone; Val C Sheffield
Journal:  Am J Hum Genet       Date:  2004-07-16       Impact factor: 11.025

5.  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

6.  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

7.  Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Authors:  Tonia C Carter; Denise M Kay; Marilyn L Browne; Aiyi Liu; Paul A Romitti; Devon Kuehn; Mary R Conley; Michele Caggana; Charlotte M Druschel; Lawrence C Brody; James L Mills
Journal:  Ann Hum Genet       Date:  2012-11-06       Impact factor: 1.670
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.