Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome-Reference-Cited by-同舟云学术

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

Published:2014-03-06 Issue:4 Volume:35 Page:424-433
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Piras Roberta¹²,Chiappe Francesca¹,Torraca Ilaria La³,Buers Insa⁴,Usala Gianluca¹,Angius Andrea¹⁵,Akin Mustafa Ali⁶,Basel-Vanagaite Lina⁷⁸⁹,Benedicenti Francesco¹⁰,Chiodin Elisabetta¹¹,El Assy Osama¹²,Feingold-Zadok Michal⁷,Guibert Javier¹³,Kamien Benjamin¹⁴,Kasapkara Çiğdem Seher¹⁵,Kılıç Esra¹⁶,Boduroğlu Koray¹⁶,Kurtoglu Selim⁶,Manzur Adnan Y¹⁷,Onal Eray Esra¹⁸,Paderi Enrica¹⁹,Roche Carmen Herrero²⁰,Tümer Leyla¹⁵,Unal Sezin¹⁸,Utine Gülen Eda¹⁶,Zanda Giovanni¹⁹,Zankl Andreas²¹²²,Zampino Giuseppe³,Crisponi Giangiorgio²³,Crisponi Laura¹,Rutsch Frank⁴

Affiliation:

1. Istituto di Ricerca Genetica e Biomedica; Consiglio Nazionale delle Ricerche; Cagliari Italy

2. Department of Public Health and Clinical and Molecular Medicine; University of Cagliari; Cagliari Italy

3. Istituto di Pediatria, Policlinico “A. Gemelli”; Università Cattolica del S. Cuore; Rome Italy

4. Department of General Pediatrics; Münster University Children's Hospital; Münster Germany

5. CRS4 Center for Advanced Studies, Research and Development in Sardinia, Laboratorio di Bioinformatica; Parco tecnologico della Sardegna; Pula Italy

6. Department of Pediatrics, Medical Faculty; Erciyes University; Kayseri Turkey

7. Pediatric Genetics, Schneider Children's Medical Center of Israel, and Raphael Recanati Genetic Institute; Rabin Medical Center, Beilinson Hospital; Petah Tikva 49100 Israel

8. Sackler School of Medicine; Tel Aviv University; Tel Aviv 69978 Israel

9. Felsenstein Medical Research Center, Tel Aviv University, Rabin Medical Center; Beilinson Campus; Petah Tikva 49100 Israel

10. Genetic Counseling Service, Department of Pediatrics; Regional Hospital of Bolzano; Bolzano Italy

11. Neonatal Intensive Care Unit, Department of Pediatrics; Regional Hospital of Bolzano; Bolzano Italy

12. Pediatric Department-NICU; Al-Hada Military Hospital; Taif Saudi Arabia

13. Servicio de Pediatría; Complejo Hospitalario de Navarra; Pamplona Spain

14. Queensland Health Pathology; Royal Brisbane Hospital; Herston Australia

15. Gazi University Hospital; Pediatric Metabolism and Nutrition; Ankara Turkey

16. Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital; Department of Pediatric Genetics; Ankara Turkey

17. The Dubowitz Neuromuscular Centre, Department of Neurosciences; Great Ormond Hospital for Children; London United Kingdom

18. Gazi University Hospital, Department of Pediatrics; Division of Neonatology Besevler; Ankara Turkey

19. Unità Operativa Pediatria -Neonatologia - Nido; Ospedale San Martino; Oristano Italy

20. Department of Pediatric Neurology; La Paz Hospital, Madrid; Spain

21. Discipline of Genetic Medicine; The University of Sydney; Sydney Australia

22. Academic Department of Medical Genetics; The Children's Hospital at Westmead; Sydney Australia

23. Clinica Sant’Anna; Cagliari Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference48 articles.

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3. Structural design and molecular evolution of a cytokine receptor superfamily;Bazan;Proc Natl Acad Sci USA,1990

4. Crisponi syndrome in a Turkish newborn: a possible founder mutation in the CRLF1 gene;Benoit;Abstract ASHG 3181W,2012

5. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

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