Literature DB >> 22674740

Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly.

Meghan Donnelly, Emily Todd, Marsha Wheeler, Virginia D Winn, Deepak Kamnasaran.   

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Year:  2012        PMID： 22674740     DOI： 10.1002/pd.3910

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  6 in total

1.  Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Authors:  Panagiotis I Sergouniotis; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; Graeme C Black; Simon C Lovell; David J Whitby; William G Newman; Jill Clayton-Smith
Journal:  J Hum Genet       Date:  2015-01-15       Impact factor: 3.172

2.  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 3.  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

4.  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

5.  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

6.  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
  6 in total

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