Somatic mosaicism in a Cornelia de Lange syndrome patient withNIPBLmutation identified by different next generation sequencing approaches-Reference-Cited by-同舟云学术

Somatic mosaicism in a Cornelia de Lange syndrome patient withNIPBLmutation identified by different next generation sequencing approaches

Published:2014-01-26 Issue:6 Volume:86 Page:595-597
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Baquero-Montoya C.¹,Gil-Rodríguez M.C.¹,Braunholz D.²,Teresa-Rodrigo M.E.¹,Obieglo C.²,Gener B.³,Schwarzmayr T.⁴,Strom T.M.⁵,Gómez-Puertas P.⁶,Puisac B.¹,Gillessen-Kaesbach G.⁷,Musio A.⁷,Ramos F.J.¹⁸,Kaiser F.J.²,Pié J.¹

Affiliation:

1. Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School; University of Zaragoza; Zaragoza Spain

2. Institut für Humangenetik Lübeck; Universität zu Lübeck; Lübeck Germany

3. Servicio de Genética, BioCruces Health Research Institute; Hospital Universitario Cruces; Barakaldo Spain

4. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

5. Institute of Human Genetics; Technische Universität München; Munich Germany

6. Molecular Modelling Group; Center of Molecular Biology “Severo Ochoa” (CSIC-UAM); Cantoblanco Madrid Spain

7. Institut für Humangenetik; Universität zu Lübeck; Germany

8. Istituto di Recerca Genetica e Biomedica; Consiglio Nazionale delle Recerche; Pisa Italy

Funder

Grupo Clï¿½nico asociado al CIBER-ER at the Universitiy of Zaragoza Medical School and Hospital Clï¿½nico Universitario Lozano Blesa.

Intramural funding from the University of Lï¿½beck (Schwerpunktprogramm, Medizinische Genetik: Von seltenen Varianten zur Krankheitsentstehung)

Spanish Ministerio de Economï¿½a y Competitividad

The Diputaciï¿½n General de Aragï¿½n (Grupo Consolidado B20), European Social Fund (Construyendo Europa desde Aragï¿½n)

The German Federal Ministry of Education and Research (BMBF) under the frame of E-Rare-2 (TARGET-CdLS) the ERA-Net for Research on Rare Diseases.

The grant from the Region of Tuscany

The Spanish Ministry of Health - Fondo de Investigaciï¿½n Sanitaria (FIS)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference5 articles.

1. Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

2. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques;Rohlin;Hum Mutat,2009

3. High rate of mosaicism in individuals with Cornelia de Lange syndrome;Huisman;J Med Genet,2013

4. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?;Castronovo;Clin Genet,2010

5. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype;Gervasini;Eur J Med Genet,2013

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