Molecular and clinical studies in 8 patients with Temple syndrome-Reference-Cited by-同舟云学术

Molecular and clinical studies in 8 patients with Temple syndrome

Published:2018-03-25 Issue:6 Volume:93 Page:1179-1188
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Gillessen-Kaesbach G.¹,Albrecht B.²,Eggermann T.³^ORCID,Elbracht M.³^ORCID,Mitter D.⁴,Morlot S.⁵,van Ravenswaaij-Arts C.M.A.⁶,Schulz S.⁷,Strobl-Wildemann G.⁸,Buiting K.²,Beygo J.²^ORCID

Affiliation:

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

2. Institut für Humangenetik; Universitätsklinikum Essen, Universität Duisburg-Essen; Essen Germany

3. Institute of Human Genetics; RWTH Aachen University; Aachen Germany

4. Institute of Human Genetics|; University of Leipzig Hospitals and Clinics; Leipzig Germany

5. Department of Human Genetics; Hannover Medical School; Hannover Germany

6. Department of Genetics; University of Groningen, University Medical Centre Groningen; Groningen The Netherlands

7. Center of Human Genetics; Jena University Hospital; Jena Germany

8. MVZ Human Genetics; Ulm Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13244/fullpdf

Reference35 articles.

1. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases;Ioannides;J Med Genet,2014

2. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains;Monk;Epigenetics,2016

3. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32;Beygo;Eur J Hum Genet,2015

4. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers;Kagami;PLoS Genet,2010

5. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome;Beygo;Eur J Hum Genet,2017

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2. Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review;BMC Medical Genomics;2024-08-29

3. Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome;Clinical Epigenetics;2024-05-07

4. Investigation of (Epi)genetic causes in syndromic short children born small for gestational age;European Journal of Medical Genetics;2023-11

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