Literature DB >> 11311000

Cerebro-fronto-facial syndrome: three types?

R M Winter.   

Abstract

Mesh：

Year:  2001        PMID： 11311000     DOI： 10.1097/00019605-200104000-00001

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

1.  A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Authors:  U Hehr; A Hehr; G Uyanik; E Phelan; J Winkler; W Reardon
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

2.  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

3.  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

4.  Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Authors:  Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibæk Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez-Nieto; Ana Carvalho; Daphné Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Séverine Drunat; Alain Verloes
Journal:  Eur J Med Genet       Date:  2018-11-22       Impact factor: 2.465
  4 in total

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