Literature DB >> 8957525

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome.

D Donnai.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8957525     DOI： 10.1002/(SICI)1096-8628(19961202)66:1<101::AID-AJMG27>3.0.CO;2-V

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  4 in total

1.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Authors:  S G Kant; A Van Haeringen; E Bakker; I Stec; D Donnai; P Mollevanger; G C Beverstock; M C Lindeman-Kusse; G J Van Ommen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

3.  New overgrowth syndrome and FGFR3 dosage effect.

Authors:  M M Cohen; G Neri
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

4.  Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Authors:  Paolo Zanoni; Katharina Steindl; Deepanwita Sengupta; Or Gozani; Anita Rauch; Pascal Joset; Angela Bahr; Heinrich Sticht; Mariarosaria Lang-Muritano; Conny M A van Ravenswaaij-Arts; Marwan Shinawi; Marisa Andrews; Tania Attie-Bitach; Isabelle Maystadt; Newell Belnap; Valerie Benoit; Geoffroy Delplancq; Bert B A de Vries; Sarah Grotto; Didier Lacombe; Austin Larson; Jeroen Mourmans; Katrin Õunap; Giulia Petrilli; Rolph Pfundt; Keri Ramsey; Lot Snijders Blok; Vassilis Tsatsaris; Antonio Vitobello; Laurence Faivre; Patricia G Wheeler; Marijke R Wevers; Monica Wojcik; Markus Zweier
Journal:  Genet Med       Date:  2021-05-03       Impact factor: 8.822
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.