Literature DB >> 10928857

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes.

J P Fryns, S Aftimos.   

Abstract

Entities:  

Mesh：

Year:  2000        PMID： 10928857      PMCID： PMC1734613          DOI： 10.1136/jmg.37.6.460

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  6 in total

1.  Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Authors:  Anna Sandestig; Anna Green; Jon Jonasson; Hartmut Vogt; Johan Wahlström; Alexander Pepler; Katarina Ellnebo; Saskia Biskup; Margarita Stefanova
Journal:  Mol Syndromol       Date:  2018-08-09

2.  A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

Authors:  Andrew Kemerley; Christina Sloan; Wanda Pfeifer; Richard Smith; Arlene Drack
Journal:  Ophthalmic Genet       Date:  2016-04-20       Impact factor: 1.803

3.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

4.  Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Authors:  N Di Donato; A Rump; R Koenig; V M Der Kaloustian; F Halal; K Sonntag; C Krause; K Hackmann; G Hahn; E Schrock; A Verloes
Journal:  Eur J Hum Genet       Date:  2013-06-12       Impact factor: 4.246

5.  De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Authors:  Jean-Baptiste Rivière; Bregje W M van Bon; Alexander Hoischen; Stanislav S Kholmanskikh; Brian J O'Roak; Christian Gilissen; Sabine Gijsen; Christopher T Sullivan; Susan L Christian; Omar A Abdul-Rahman; Joan F Atkin; Nicolas Chassaing; Valerie Drouin-Garraud; Andrew E Fry; Jean-Pierre Fryns; Karen W Gripp; Marlies Kempers; Tjitske Kleefstra; Grazia M S Mancini; Małgorzata J M Nowaczyk; Conny M A van Ravenswaaij-Arts; Tony Roscioli; Michael Marble; Jill A Rosenfeld; Victoria M Siu; Bert B A de Vries; Jay Shendure; Alain Verloes; Joris A Veltman; Han G Brunner; M Elizabeth Ross; Daniela T Pilz; William B Dobyns
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

6.  Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.

Authors:  Seth Andrew Climans; Seyed M Mirsattari
Journal:  Epilepsy Behav Case Rep       Date:  2017-03-18
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.