Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation-Reference-Cited by-同舟云学术

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

Published:2004-01-27 Issue:2 Volume:23 Page:147-159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kato Mitsuhiro¹²,Das Soma¹,Petras Kristin¹,Kitamura Kunio³,Morohashi Ken‐ichirou⁴,Abuelo Diane N.⁵,Barr Mason⁶,Bonneau Dominique⁷,Brady Angela F.⁸,Carpenter Nancy J.⁹,Cipero Karen L.¹⁰,Frisone Francesco¹¹,Fukuda Takayuki⁴,Guerrini Renzo¹²,Iida Eri³,Itoh Masayuki¹³,Lewanda Amy Feldman¹⁴¹⁵,Nanba Yukiko¹⁶,Oka Akira¹⁶,Proud Virginia K.¹⁷,Saugier‐Veber Pascale¹⁸,Schelley Susan L.¹⁹,Selicorni Angelo²⁰,Shaner Rachel⁵,Silengo Margherita²¹,Stewart Fiona²²,Sugiyama Noriyuki⁴,Toyama Jun²³,Toutain Annick²⁴,Vargas Ana Lía²⁵,Yanazawa Masako³,Zackai Elaine H.¹⁰,Dobyns William B.¹

Affiliation:

1. Department of Human Genetics, The University of Chicago, Chicago, Illinois

2. Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan

3. Mitsubishi Kagaku Institute of Life Sciences, Tokyo, Japan

4. Department of Developmental Biology, National Institute for Basic Biology, Okazaki, Japan

5. Department of Pediatrics, Rhode Island Hospital, Providence, Rhode Island

6. Teratology Unit, Departments of Pediatrics, Pathology, and Obstetrics, University of Michigan, Ann Arbor, Michigan

7. Service de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, Angers, France

8. North West Thames Regional Genetics Service, Kennedy‐Galton Centre, North West London Hospitals NHS Trust, London, UK

9. HA Chapman Institute of Medical Genetics, University of Oklahoma Health Science Center, Tulsa, Oklahoma

10. Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, Pennsylvania

11. Congregazione Suore Infermiere dell'Addolorata, Ospedale Generale di Zona “Valduce”, Divisione di Patologia Neonatale, Como, Italy

12. INPE Istituto di Neuropsichiatria e Psicopedagogia dellíeta evolutiva, Universita degli Studi di Pisa‐IRCCS Stella Maris, Pisa, Italy

13. National Center of Neurology and Psychiatry, National Institute of Neuroscience, Tokyo, Japan

14. Division of Genetics, Inova Fairfax Hospital for Children, Falls Church, Virginia

15. Johns Hopkins University School of Medicine, Baltimore, Maryland

16. Tottori University School of Medicine, Yonago, Japan

17. Department of Pediatrics (Medical Genetics), Eastern Virginia Medical School; Norfolk, Virginia

18. Service de Médecine Néonatale et Service de Génétique, Centre Hospitalier Universitaire de Rouen, Rouen, France

19. Department of Pediatrics (Genetics), Stanford University, Stanford, California

20. Centro di Genetica Clinica per l'Infanzia, I Clinica Pediatrica Università di Milano, Milan, Italy

21. Department of Pediatrics, University of Torino, Torino, Italy

22. Department of Medical Genetics, Belfast City Hospital, Belfast, UK

23. Department of Pediatrics, Okinawa Child Development Center, Okinawa, Japan

24. Service de Génétique et Service de Neuropédiatrie, Centre Hospitalier Universitaire de Tours, Tours, France

25. Instituto de Genética; Universidad Nacional de Cuyo, Mendoza, Argentina

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.10310

Reference32 articles.

1. Molecular evolution of the homeodomain family of transcription factors

2. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

3. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

4. RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer

5. Missense mutations of human homeoboxes: A review

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