Literature DB >> 526592

Frontonasal dysplasia with coronal craniosynostosis in three sibs.

R Slover, E Sujansky.   

Abstract

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Year:  1979        PMID： 526592

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  6 in total

1.  The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Authors:  Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A Jeannette M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2006-04-28       Impact factor: 11.025

2.  Craniofrontonasal dysplasia.

Authors:  I D Young
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

3.  Craniosynostosis.

Authors:  A Hunter
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  Craniofrontonasal dysplasia.

Authors:  L Kapusta; H G Brunner; B C Hamel
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

5.  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

6.  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
  6 in total

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