Literature DB >> 12244558

Auriculo-condylar syndrome: additional patients.

Maria Leine Guion-Almeida1, Roseli Maria Zechi-Ceide, Siulan Vendramini, Nancy Mizue Kokitsu-Nakata.   

Abstract

This report describes several relatives in three generations of one family and another, unrelated boy with auriculo-condylar syndrome, a rare autosomal dominant disorder. Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2002        PMID： 12244558     DOI： 10.1002/ajmg.10631

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

Review 1.  Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Authors:  David E Clouthier; Maria Rita Passos-Bueno; Andre L P Tavares; Stanislas Lyonnet; Jeanne Amiel; Christopher T Gordon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

2.  Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Authors:  Vanessa L Romanelli Tavares; Christopher T Gordon; Roseli M Zechi-Ceide; Nancy Mizue Kokitsu-Nakata; Norine Voisin; Tiong Y Tan; Andrew A Heggie; Siulan Vendramini-Pittoli; Evan J Propst; Blake C Papsin; Tatiana T Torres; Henk Buermans; Luciane Portas Capelo; Johan T den Dunnen; Maria L Guion-Almeida; Stanislas Lyonnet; Jeanne Amiel; Maria Rita Passos-Bueno
Journal:  Eur J Hum Genet       Date:  2014-07-16       Impact factor: 4.246

3.  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 4.  Syndromes of the first and second branchial arches, part 2: syndromes.

Authors:  J M Johnson; G Moonis; G E Green; R Carmody; H N Burbank
Journal:  AJNR Am J Neuroradiol       Date:  2010-04-01       Impact factor: 3.825

5.  Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Authors:  Christopher T Gordon; Florence Petit; Peter M Kroisel; Linda Jakobsen; Roseli Maria Zechi-Ceide; Myriam Oufadem; Christine Bole-Feysot; Solenn Pruvost; Cécile Masson; Frédéric Tores; Thierry Hieu; Patrick Nitschké; Pernille Lindholm; Philippe Pellerin; Maria Leine Guion-Almeida; Nancy Mizue Kokitsu-Nakata; Siulan Vendramini-Pittoli; Arnold Munnich; Stanislas Lyonnet; Muriel Holder-Espinasse; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2013-11-21       Impact factor: 11.025

6.  A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Authors:  Mark J Rieder; Glenn E Green; Sarah S Park; Brendan D Stamper; Christopher T Gordon; Jason M Johnson; Christopher M Cunniff; Joshua D Smith; Sarah B Emery; Stanislas Lyonnet; Jeanne Amiel; Muriel Holder; Andrew A Heggie; Michael J Bamshad; Deborah A Nickerson; Timothy C Cox; Anne V Hing; Jeremy A Horst; Michael L Cunningham
Journal:  Am J Hum Genet       Date:  2012-05-04       Impact factor: 11.025

7.  Auriculo-condylar syndrome.

Authors:  M J Papagrigorakis; M Karamolegou; G Vilos; C Apostolidis; K Karamesinis; P N Synodinos
Journal:  Angle Orthod       Date:  2011-11-03       Impact factor: 2.079

8.  Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.

Authors:  Xiaoliang Liu; Wei Sun; Jun Wang; Guoming Chu; Rong He; Bijun Zhang; Yanyan Zhao
Journal:  BMC Pregnancy Childbirth       Date:  2021-11-17       Impact factor: 3.007

9.  A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.

Authors:  Kumiko Yanagi; Noriko Morimoto; Manami Iso; Yukimi Abe; Kohji Okamura; Tomoo Nakamura; Yoichi Matsubara; Tadashi Kaname
Journal:  J Hum Genet       Date:  2021-03-15       Impact factor: 3.172
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.