Literature DB >> 14757865

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

M Ghassibé1, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula.   

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Year:  2004        PMID： 14757865      PMCID： PMC1735675          DOI： 10.1136/jmg.2003.009274

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


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  15 in total

1.  IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Authors:  L Desmyter; M Ghassibe; N Revencu; O Boute; M Lees; G François; C Verellen-Dumoulin; Y Sznajer; A Moncla; H Benateau; K Claes; K Devriendt; M Mathieu; L Van Maldergem; M-C Addor; V Drouin-Garraud; G Mortier; M Bouma; A Dieux-Coeslier; D Genevieve; A Goldenberg; A Gozu; P Makrythanasis; U McEntagart; A Sanchez; C Vilain; S Vermeer; F Connell; J Verheij; S Manouvrier; G Pierquin; S Odent; M Holder-Espinasse; C Vincent-Delorme; Y Gillerot; R Vanwijck; B Bayet; M Vikkula
Journal:  Mol Syndromol       Date:  2010-06-09

2.  FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

Authors:  Michella Ghassibe-Sabbagh; Laurence Desmyter; Tobias Langenberg; Filip Claes; Odile Boute; Bénédicte Bayet; Philippe Pellerin; Karlien Hermans; Liesbeth Backx; Maria Adela Mansilla; Sandra Imoehl; Stefanie Nowak; Kerstin U Ludwig; Carlotta Baluardo; Melissa Ferrian; Peter A Mossey; Markus Noethen; Mieke Dewerchin; Geneviève François; Nicole Revencu; Romain Vanwijck; Jacqueline Hecht; Elisabeth Mangold; Jeffrey Murray; Michele Rubini; Joris R Vermeesch; Hélène A Poirel; Peter Carmeliet; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

Review 3.  Toward an orofacial gene regulatory network.

Authors:  Youssef A Kousa; Brian C Schutte
Journal:  Dev Dyn       Date:  2015-09-17       Impact factor: 3.780

4.  Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.

Authors:  Olutayo James; Wasiu L Adeyemo; Christian I Emeka; Mobolanle O Ogunlewe; Akinola L Ladeinde; Azeez Butali
Journal:  Afr J Paediatr Surg       Date:  2014 Jan-Mar

5.  Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.

Authors:  Belinda J Washbourne; Timothy C Cox
Journal:  BMC Dev Biol       Date:  2006-03-24       Impact factor: 1.978

6.  Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Authors:  Gerrye Mubungu; Aimé Lumaka; Rosette Matondo; Gloire Mbayabo; Deborah Tuka; Claudarche Kayembe; Didier Mulowhe; Antoine Molua; Bruno-Paul Tady; Emmanuel Nkidiaka; Paulo Bunga; Prosper Lukusa Tshilobo; Koenraad Devriendt
Journal:  Clin Case Rep       Date:  2014-09-15

Review 7.  Tooth agenesis and orofacial clefting: genetic brothers in arms?

Authors:  M Phan; F Conte; K D Khandelwal; C W Ockeloen; T Bartzela; T Kleefstra; H van Bokhoven; M Rubini; H Zhou; C E L Carels
Journal:  Hum Genet       Date:  2016-10-03       Impact factor: 4.132

8.  Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

Authors:  Renata L L Ferreira de Lima; Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antônio Richieri-Costa; Danilo Moretti-Ferreira; Jeffrey C Murray; Brian C Schutte
Journal:  Genet Med       Date:  2009-04       Impact factor: 8.822

9.  Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

Authors:  Hayley J Little; Nicholas K Rorick; Ling-I Su; Clair Baldock; Saimon Malhotra; Tom Jowitt; Lokesh Gakhar; Ramaswamy Subramanian; Brian C Schutte; Michael J Dixon; Paul Shore
Journal:  Hum Mol Genet       Date:  2008-11-26       Impact factor: 6.150

10.  Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.

Authors:  Azeez Butali; Peter A Mossey; Wasiu L Adeyemo; Mekonen A Eshete; LauRen A Gaines; Dee Even; Ramat O Braimah; Babatunde S Aregbesola; Jennifer V Rigdon; Christian I Emeka; Olutayo James; Mobolanle O Ogunlewe; Akinola L Ladeinde; Fikre Abate; Taye Hailu; Ibrahim Mohammed; Paul E Gravem; Milliard Deribew; Mulualem Gesses; Adebowale A Adeyemo; Jeffrey C Murray
Journal:  Mol Genet Genomic Med       Date:  2014-01-27       Impact factor: 2.183
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