Literature DB >> 32691531

50 years of Robinow syndrome.

Juliana F Mazzeu1,2, Han G Brunner3,4.   

Abstract

Mesh:

Year:  2020        PMID: 32691531     DOI: 10.1002/ajmg.a.61756

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  3 in total

1.  Dominant omodysplasia-A sporadic case-A new case report and review of the literature.

Authors:  Aidin Arabzadeh; Behnam Baghianimoghadam; Mohammad Hossein Nabian; Yousef Fallah; Mohammad Mehdi Ebrahimnasab
Journal:  Clin Case Rep       Date:  2022-08-03

2.  Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

Authors:  Chaofan Zhang; Juliana F Mazzeu; Jesper Eisfeldt; Christopher M Grochowski; Janson White; Zeynep C Akdemir; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Anna Lindstrand; James R Lupski; V Reid Sutton; Claudia M B Carvalho
Journal:  Am J Med Genet A       Date:  2020-10-13       Impact factor: 2.802

3.  Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Authors:  Chaofan Zhang; Angad Jolly; Brian J Shayota; Juliana F Mazzeu; Haowei Du; Moez Dawood; Patricia Celestino Soper; Ariadne Ramalho de Lima; Bárbara Merfort Ferreira; Zeynep Coban-Akdemir; Janson White; Deborah Shears; Fraser Robert Thomson; Sarah Louise Douglas; Andrew Wainwright; Kathryn Bailey; Paul Wordsworth; Mike Oldridge; Tracy Lester; Alistair D Calder; Katja Dumic; Siddharth Banka; Dian Donnai; Shalini N Jhangiani; Lorraine Potocki; Wendy K Chung; Sara Mora; Hope Northrup; Myla Ashfaq; Jill A Rosenfeld; Kati Mason; Lynda C Pollack; Allyn McConkie-Rosell; Wei Kelly; Marie McDonald; Natalie S Hauser; Peter Leahy; Cynthia M Powell; Raquel Boy; Rachel Sayuri Honjo; Fernando Kok; Lucia R Martelli; Vicente Odone Filho; Donna M Muzny; Richard A Gibbs; Jennifer E Posey; Pengfei Liu; James R Lupski; V Reid Sutton; Claudia M B Carvalho
Journal:  HGG Adv       Date:  2021-12-03
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.