Chromatinopathies: A focus on Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Chromatinopathies: A focus on Cornelia de Lange syndrome

Published:2019-11-24 Issue:1 Volume:97 Page:3-11
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Avagliano Laura¹,Parenti Ilaria²³,Grazioli Paolo¹^ORCID,Di Fede Elisabetta¹,Parodi Chiara¹,Mariani Milena⁴,Kaiser Frank J.²⁵⁶,Selicorni Angelo⁴,Gervasini Cristina¹,Massa Valentina¹

Affiliation:

1. Department of Health SciencesUniversità degli Studi di Milano Milano Italy

2. Section for Functional Genetics, Institute of Human GeneticsUniversity of Lübeck Lübeck Germany

3. Institute of Science and Technology (IST) Austria Klosterneuburg Austria

4. UOC PediatriaASST Lariana Como Italy

5. DZHK e.V. (German Center for Cardiovascular Research)Partner Site Hamburg/Kiel/Lübeck Lübeck Germany

6. Institut für HumangenetikUniversitätsklinikum Essen, Universität Duisburg‐Essen Essen Germany

Funder

Fondazione Cariplo

Bundesministerium für Bildung und Forschung

Università degli Studi di Milano

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13674

Reference58 articles.

1. Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?

2. Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

3. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

4. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

5. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

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