Literature DB >> 21294718

PRRX1 is mutated in a fetus with agnathia-otocephaly.

C Sergi, D Kamnasaran.   

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Year:  2011        PMID： 21294718     DOI： 10.1111/j.1399-0004.2010.01531.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Authors:  Kerry A Miller; Tiong Y Tan; Megan F Welfare; Susan M White; Zornitza Stark; Ravi Savarirayan; Trent Burgess; Andrew A Heggie; Georgina Caruana; John F Bertram; John F Bateman; Peter G Farlie
Journal:  Mol Syndromol       Date:  2014-11-08

Review 2.  Transcriptional control of chondrocyte specification and differentiation.

Authors:  Chia-Feng Liu; William E Samsa; Guang Zhou; Véronique Lefebvre
Journal:  Semin Cell Dev Biol       Date:  2016-10-19       Impact factor: 7.727

3.  Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Authors:  O Patat; C M A van Ravenswaaij-Arts; J Tantau; N Corsten-Janssen; J P van Tintelen; T Dijkhuizen; J Kaplan; N Chassaing
Journal:  Mol Syndromol       Date:  2013-07-09

Review 4.  Re-focusing on Agnathia-Otocephaly complex.

Authors:  C Dubucs; N Chassaing; C Sergi; M Aubert-Mucca; T Attié-Bitach; D Lacombe; C Thauvin-Robinet; S Arpin; M J Perez; C Cabrol; C P Chen; J Aziza; E Colin; J Martinovic; P Calvas; Julie Plaisancié
Journal:  Clin Oral Investig       Date:  2020-07-09       Impact factor: 3.573

5.  Competition between Jagged-Notch and Endothelin1 Signaling Selectively Restricts Cartilage Formation in the Zebrafish Upper Face.

Authors:  Lindsey Barske; Amjad Askary; Elizabeth Zuniga; Bartosz Balczerski; Paul Bump; James T Nichols; J Gage Crump
Journal:  PLoS Genet       Date:  2016-04-08       Impact factor: 5.917

6.  Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature.

Authors:  Kazuhiro Kajiwara; Tomohiro Tanemoto; Chie Nagata; Aikou Okamoto
Journal:  Case Rep Obstet Gynecol       Date:  2016-08-04

7.  Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development.

Authors:  Walid D Fakhouri; Kareem Metwalli; Ali Naji; Sarah Bakhiet; Angela Quispe-Salcedo; Larissa Nitschke; Youssef A Kousa; Brian C Schutte
Journal:  Sci Rep       Date:  2017-08-02       Impact factor: 4.379
  7 in total

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