Literature DB >> 18627045

Additional EFNB1 mutations in craniofrontonasal syndrome.

Deeann Wallis1, Felicitas Lacbawan, Mahim Jain, Vazken M Der Kaloustian, Carlos E Steiner, John B Moeschler, H Wolfgang Losken, Ilkka I Kaitila, Stephen Cantrell, Virginia K Proud, John C Carey, Donald W Day, Dorit Lev, Ahmad S Teebi, Luther K Robinson, H Eugene Hoyme, Nadia Al-Torki, Jacqueline Siegel-Bartelt, John B Mulliken, Nathaniel H Robin, Dolores Saavedra, Elaine H Zackai, Maximilian Muenke.   

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Year:  2008        PMID： 18627045      PMCID： PMC2774847          DOI： 10.1002/ajmg.a.32388

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


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  18 in total

1.  Control of skeletal patterning by ephrinB1-EphB interactions.

Authors:  Amelia Compagni; Malcolm Logan; Rüdiger Klein; Ralf H Adams
Journal:  Dev Cell       Date:  2003-08       Impact factor: 12.270

Review 2.  Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

Authors:  Lynne E Maquat
Journal:  Nat Rev Mol Cell Biol       Date:  2004-02       Impact factor: 94.444

3.  A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

Authors:  G J Feldman; D E Ward; E Lajeunie-Renier; D Saavedra; N H Robin; V Proud; L J Robb; V Der Kaloustian; J C Carey; M M Cohen; V Cormier; A Munnich; E H Zackai; A O Wilkie; R A Price; M Muenke
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

4.  The ephrin VAB-2/EFN-1 functions in neuronal signaling to regulate epidermal morphogenesis in C. elegans.

Authors:  I D Chin-Sang; S E George; M Ding; S L Moseley; A S Lynch; A D Chisholm
Journal:  Cell       Date:  1999-12-23       Impact factor: 41.582

5.  Craniofrontonasal dysostosis: variable expression in a three-generation family.

Authors:  J Kere; A Ritvanen; E Marttinen; I Kaitila
Journal:  Clin Genet       Date:  1990-12       Impact factor: 4.438

6.  Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Authors:  Ilse Wieland; Sibylle Jakubiczka; Petra Muschke; Monika Cohen; Hannelore Thiele; Klaus L Gerlach; Ralf H Adams; Peter Wieacker
Journal:  Am J Hum Genet       Date:  2004-04-29       Impact factor: 11.025

7.  A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome.

Authors:  Vorasuk Shotelersuk; Pichit Siriwan; Surasawadee Ausavarat
Journal:  Cleft Palate Craniofac J       Date:  2006-03

8.  Ephrin-B1 forward and reverse signaling are required during mouse development.

Authors:  Alice Davy; Josée Aubin; Philippe Soriano
Journal:  Genes Dev       Date:  2004-03-01       Impact factor: 11.361

9.  Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Authors:  Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-27       Impact factor: 11.205

10.  Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Authors:  Ilse Wieland; William Reardon; Sibylle Jakubiczka; Brunella Franco; Wolfram Kress; Catherine Vincent-Delorme; Patrick Thierry; Matt Edwards; Rainer König; Cristina Rusu; Susann Schweiger; Elizabeth Thompson; Sigrid Tinschert; Fiona Stewart; Peter Wieacker
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878
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  9 in total

1.  Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

Authors:  Irene M J Mathijssen
Journal:  J Craniofac Surg       Date:  2015-09       Impact factor: 1.046

2.  Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Authors:  M E P van den Elzen; S R F Twigg; J A C Goos; A J M Hoogeboom; A M W van den Ouweland; A O M Wilkie; I M J Mathijssen
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

Review 3.  Craniosynostosis: molecular pathways and future pharmacologic therapy.

Authors:  Kshemendra Senarath-Yapa; Michael T Chung; Adrian McArdle; Victor W Wong; Natalina Quarto; Michael T Longaker; Derrick C Wan
Journal:  Organogenesis       Date:  2012-10-01       Impact factor: 2.500

4.  The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Authors:  Roman Makarov; Bernhard Steiner; Zoran Gucev; Velibor Tasic; Peter Wieacker; Ilse Wieland
Journal:  BMC Med Genet       Date:  2010-06-17       Impact factor: 2.103

5.  Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.

Authors:  Semra Gürsoy; Filiz Hazan; Tülay Öztürk; Rüya Çolak; Şebnem Çalkavur
Journal:  Mol Syndromol       Date:  2021-07-12

6.  Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Authors:  Kerry A Miller; Stephen R F Twigg; Simon J McGowan; Julie M Phipps; Aimée L Fenwick; David Johnson; Steven A Wall; Peter Noons; Katie E M Rees; Elizabeth A Tidey; Judith Craft; John Taylor; Jenny C Taylor; Jacqueline A C Goos; Sigrid M A Swagemakers; Irene M J Mathijssen; Peter J van der Spek; Helen Lord; Tracy Lester; Noina Abid; Deirdre Cilliers; Jane A Hurst; Jenny E V Morton; Elizabeth Sweeney; Astrid Weber; Louise C Wilson; Andrew O M Wilkie
Journal:  J Med Genet       Date:  2016-11-24       Impact factor: 6.318

7.  mRNA expression analysis of the hippocampus in a vervet monkey model of fetal alcohol spectrum disorder.

Authors:  Rob F Gillis; Roberta M Palmour
Journal:  J Neurodev Disord       Date:  2022-03-19       Impact factor: 4.025

8.  A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.

Authors:  M A Ramirez-Garcia; O F Chacon-Camacho; C Leyva-Hernandez; A Cardenas-Conejo; J C Zenteno
Journal:  Case Rep Genet       Date:  2013-02-21

9.  Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Authors:  Stephen R F Twigg; Christian Babbs; Marijke E P van den Elzen; Anne Goriely; Stephen Taylor; Simon J McGowan; Eleni Giannoulatou; Lorne Lonie; Jiannis Ragoussis; Elham Sadighi Akha; Samantha J L Knight; Roseli M Zechi-Ceide; Jeannette A M Hoogeboom; Barbara R Pober; Helga V Toriello; Steven A Wall; M Rita Passos-Bueno; Han G Brunner; Irene M J Mathijssen; Andrew O M Wilkie
Journal:  Hum Mol Genet       Date:  2013-01-17       Impact factor: 6.150
  9 in total

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