Further delineation of Kabuki syndrome in 48 well-defined new individuals-Reference-Cited by-同舟云学术

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Published:2004-12-22 Issue:3 Volume:132A Page:265-272
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Armstrong Linlea¹,Moneim Azza Abd El²,Aleck Kirk³,Aughton David J.⁴,Baumann Clarisse⁵,Braddock Stephen R.⁶,Gillessen-Kaesbach Gabriele⁷,Graham John M.⁸,Grebe Theresa A.³,Gripp Karen W.⁹,Hall Bryan D.¹⁰,Hennekam Raoul¹¹,Hunter Alasdair¹,Keppler-Noreuil Kim¹²,Lacombe Didier²,Lin Angela E.¹³,Ming Jeffrey E.¹⁴,Kokitsu-Nakata Nancy Mizue¹⁵,Nikkel Sarah M.¹,Philip Nicole¹⁶,Raas-Rothschild Annick¹⁷,Sommer Annemarie¹⁸,Verloes Alain⁵,Walter Claudia⁷,Wieczorek Dagmar⁷,Williams Marc S.¹⁹,Zackai Elaine¹⁴,Allanson Judith E.¹

Affiliation:

1. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa, Ontario

2. Department of Medical Genetics; Pellegrin Children's Hospital; Bordeaux France

3. University of Arizona Phoenix Genetics Program; Phoenix Children's Hospital and CHC St. Joseph's Hospital; Phoenix, Arizona

4. Division of Genetics, Department of Pediatrics, William Beaumont Hospital; Royal Oak, Michigan; Department of Pediatrics, Wayne State University School of Medicine; Detroit, Michigan

5. Clinical genetic Unit; Hôpital Robert Debré; Paris, France

6. Division of Medical Genetics, Department of Child Health; University of Missouri School of Medicine; Columbia, Missouri

7. Institut für Humangenetik; Universitätsklinikum Essen; Germany

8. Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics; Cedars-Sinai Medical Center, UCLA School of Medicine; Los Angeles, California

9. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington, Delaware

10. Department of Pediatrics; University of Kentucky; Lexington, Kentucky

11. Department of Pediatrics and Medical Genetics; University of Amsterdam; Amsterdam The Netherlands

12. Division of Medical Genetics; Department of Pediatrics, University of Iowa Hospitals & Clinics; Iowa

13. Genetics and Teratology Unit, Pediatric Service; MassGeneral for Children; Boston, Massachusetts

14. The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine; Philadelphia, Pennsylvania

15. Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais; Universidade de São Paulo; Bauru, São Paulo Brazil

16. Departement de Genetique Medicale; Hopital d'Enfants de la Timone; France

17. Department of Human Genetics; Hadassah University Medical Center; Jerusalem Israel

18. Department of Pediatrics, Division of Molecular and Human Genetics; The Ohio State University and Children's Hospital; Columbus, Ohio

19. Department of Pediatrics; Gundersen Lutheran Medical Center; La Crosse, Wisconsin

Funder

SHARE's Child Disability Center

Steven Spielberg Pediatric Research Center

UCLA Intercampus NIH/NIGMS Medical Genetics Training Program

NIH/NICHD

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference50 articles.

1. American College of Medical Genetics Statement on Guidance for Genetic Counseling in Advanced Paternal Age 1996 http://www.acmg.net/Pages/ACMG_Activities/policy_statements_pages/current/Genetic_Counseling_in_Advanced_Paternal_Age_Statement_on_Guidance_for.asp

2. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate individuals;Burke;Cleft Palate Craniofacial J,1995

3. Center for Disease Control, National Center for Health Statistics, division of Data Services 1970, 1999 http://www.cdc.gov/nchs/data/statab/t991x23.pdf

4. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency;Chrzanowska;Clin Genet,1998

5. The origins, patterns and implications of human spontaneous mutation;Crow;Nat Rev Genet,2000

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