Literature DB >> 9779813

Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.

E V Bawle, J Conard, D L Van Dyke, P Czarnecki, D A Driscoll.   

Abstract

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Year:  1998        PMID: 9779813     DOI: 10.1002/(sici)1096-8628(19981012)79:5<406::aid-ajmg18>3.0.co;2-v

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


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  6 in total

1.  Cayler cardiofacial syndrome with situs inversus totalis.

Authors:  Birendra Rai; Debkrishna Mallick; Rajoo Thapa; Biswajit Biswas
Journal:  Eur J Pediatr       Date:  2014-01-03       Impact factor: 3.183

2.  Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face.

Authors:  Hatice Mutlu-Albayrak; Çağrı Damar; Gürkan Gürbüz
Journal:  J Pediatr Genet       Date:  2019-04-01

3.  EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

Authors:  N Shimasaki; K Watanabe; M Hara; K Kosaki
Journal:  Pediatr Cardiol       Date:  2004 Jul-Aug       Impact factor: 1.655

Review 4.  The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.

Authors:  Diana Cárdenas-Nieto; Maribel Forero-Castro; Clara Esteban-Pérez; Julio Martínez-Lozano; Ignacio Briceño-Balcázar
Journal:  J Pediatr Genet       Date:  2019-10-23

5.  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Authors:  Ian M Campbell; Sarah E Sheppard; T Blaine Crowley; Daniel E McGinn; Alice Bailey; Michael J McGinn; Marta Unolt; Jelle F Homans; Erin Y Chen; Harold I Salmons; J William Gaynor; Elizabeth Goldmuntz; Oksana A Jackson; Lorraine E Katz; Maria R Mascarenhas; Vincent F X Deeney; René M Castelein; Karen B Zur; Lisa Elden; Staci Kallish; Thomas F Kolon; Sarah E Hopkins; Madeline A Chadehumbe; Michele P Lambert; Brian J Forbes; Julie S Moldenhauer; Erica M Schindewolf; Cynthia B Solot; Edward M Moss; Raquel E Gur; Kathleen E Sullivan; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

6.  Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns.

Authors:  Sunil Jayaram Pawar; Deepak Kumar Sharma; Sela Srilakshmi; Suguna Reddy Chejeti; Aakash Pandita
Journal:  Iran J Pediatr       Date:  2015-04-18       Impact factor: 0.364

  6 in total

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