Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?-Reference-Cited by-同舟云学术

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Published:2015-09-11 Issue:1 Volume:170 Page:94-102
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hackmann Karl¹,Rump Andreas¹,Haas Stefan A.²,Lemke Johannes R.³,Fryns Jean-Pierre⁴,Tzschach Andreas⁵,Wieczorek Dagmar⁶,Albrecht Beate⁶,Kuechler Alma⁶,Ripperger Tim⁷,Kobelt Albrecht⁸,Oexle Konrad¹,Tinschert Sigrid¹,Schrock Evelin¹,Kalscheuer Vera M.⁹,Di Donato Nataliya¹

Affiliation:

1. Institut fuer Klinische Genetik; Medizinische Fakultaet Carl Gustav Carus; Technische Universitaet Dresden; Dresden Germany

2. Department of Computational Molecular Biology; Max Planck Institute for Molecular Genetics; Berlin Germany

3. Division of Human Genetics; University Children's Hospital Inselspital; Bern Switzerland

4. Centre for Human Genetics; KU Leuven/University Hospital Leuven; Leuven Belgium

5. Institut fuer Medizinische Genetik und Angewandte Genomik; Universitaetsklinikum; Tuebingen Germany

6. Institut für Humangenetik; Universitätsklinikum Essen; Universitaet Duisburg-Essen; Essen Germany

7. Institute of Cell and Molecular Pathology; Hannover Medical School; Hannover Germany

8. Zentrum fuer Diagnostik GmbH MVZ; Praxis fuer Humangenetik; Klinikum Chemnitz; Chemnitz Germany

9. Department of Human Molecular Genetics; Max Planck Institute for Molecular Genetics; Berlin Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity;Bachmann-Gagescu;Genet Med,2010

2. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities;Brunetti-Pierri;Nat Genet,2008

3. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability;Callier;Clin Genet,2013

4. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders;Durand;Nat Genet,2007

5. European cytogeneticists association register of unbalanced chromosome aberrations (ECARUCA); An online database for rare chromosome abnormalities;Feenstra;Eur J Med Genet,2006

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