Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum-Reference-Cited by-同舟云学术

Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum

Published:2013-10-02 Issue:11 Volume:161 Page:2909-2919
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gervasini Cristina¹,Russo Silvia²,Cereda Anna³,Parenti Ilaria¹,Masciadri Maura²,Azzollini Jacopo¹,Melis Daniela⁴,Aravena Teresa⁵,Doray Bérénice⁶,Ferrarini Alessandra⁷,Garavelli Livia⁸,Selicorni Angelo³,Larizza Lidia¹²

Affiliation:

1. Department of Health Sciences, Medical Genetics; Università degli Studi di Milano; Milan Italy

2. Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS; Istituto Auxologico Italiano; Milan Italy

3. Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit; S. Gerardo Hospital; Monza Italy

4. Dipartimento di Pediatria, Area Funzionale di Genetica Clinica Pediatrica; Università degli Studi di Napoli “Federico II”; Naples Italy

5. Genetic Service; Clinical Hospital of Chile University, INTA; Chile University; Santiago Chile

6. Génétique Médicale, CHU; Strasbourg France

7. Pediatric Service San Giovanni Hospital; Bellinzona Switzerland

8. Obstetric and Pediatric Department, Clinical Genetics Unit; IRCCS Arcispedale Santa Maria Nuova; Reggio Emilia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

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2. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations;Borck;Hum Mutat,2007

3. The DXS423E gene in Xp11.21 escapes X chromosome inactivation;Brown;Hum Mol Genet,1995

4. X inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005

5. Modifier genes in Mendelian disorders: The example of cystic fibrosis;Cutting;Ann NY Acad Sci,2010

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