Literature DB >> 22211708

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.

T Çelik, P O Simsek, T Sozen, O Ozyuncu, G E Utine, B Talim, Ş Yiğit, K Boduroglu, D Kamnasaran.   

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Year:  2011        PMID： 22211708     DOI： 10.1111/j.1399-0004.2011.01730.x

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


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  10 in total

1.  Role played by Prx1-dependent extracellular matrix properties in vascular smooth muscle development in embryonic lungs.

Authors:  Kaori Ihida-Stansbury; Juliana Ames; Mithil Chokshi; Norman Aiad; Sonali Sanyal; Kimihito C Kawabata; Ilya Levental; Harini G Sundararaghavan; Jason A Burdick; Paul Janmey; Kohei Miyazono; Rebecca G Wells; Peter L Jones
Journal:  Pulm Circ       Date:  2015-06       Impact factor: 3.017

2.  Syndromes associated with holoprosencephaly.

Authors:  Paul Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

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.  Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Authors:  Nicole Meier; Elisabeth Bruder; Peter Miny; Sevgi Tercanli; Isabel Filges
Journal:  Mol Genet Genomic Med       Date:  2020-02-26       Impact factor: 2.183

7.  Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.

Authors:  Mary A Gudipati; Elizabeth Waters; Carol Greene; Nidhi Goel; Nicole L Hoppman; Beth A Pitel; Matthew R Webley; Ying Zou
Journal:  Mol Cytogenet       Date:  2019-10-31       Impact factor: 2.009

8.  A molecular classification of human mesenchymal stromal cells.

Authors:  Florian Rohart; Elizabeth A Mason; Nicholas Matigian; Rowland Mosbergen; Othmar Korn; Tyrone Chen; Suzanne Butcher; Jatin Patel; Kerry Atkinson; Kiarash Khosrotehrani; Nicholas M Fisk; Kim-Anh Lê Cao; Christine A Wells
Journal:  PeerJ       Date:  2016-03-24       Impact factor: 2.984

9.  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

10.  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
  10 in total

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