Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database-Reference-Cited by-同舟云学术

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Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Published:2018-01-11 Issue:3 Volume:39 Page:345-364
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tümer Zeynep¹^ORCID,López-Hernández Julia Angélica²,Netchine Irène³⁴,Elbracht Miriam⁵,Grønskov Karen¹,Gede Lene Bjerring¹,Sachwitz Jana⁵,den Dunnen Johan T.²,Eggermann Thomas⁵

Affiliation:

1. Applied Human Molecular Genetics; Kennedy Centre; Department of Clinical Genetics; Copenhagen University Hospital, Rigshospitalet; Glostrup Denmark

2. Human Genetics and Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Sorbonne Universite, INSERM UMR_S 938; CDR Saint-Antoine; Paris France

4. APHP, Armand Trousseau Hospital; Pediatric Endocrinology; Paris France

5. Institute of Human Genetics; Medical Faculty; RWTH Aachen University; Aachen Germany

Funder

European Cooperation in Science and Technology

Bundesministerium für Bildung und Frauen

Deutsche Forschungsgemeinschaft

Université Pierre et Marie Curie

Association Françaises des Familles ayant un enfant atteint du Syndrome Silver Russell ou né Petit pour l'Age Gestationnel (AFIF/PAG)”

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference65 articles.

1. 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome;Abi Habib;Human Mutation,2017a

2. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction;Abi Habib;Genetics in Medicine,2017b

3. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome;Azzi;Journal of Medical Genetics,2015

4. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes;Bartholdi;Journal of Medical Genetics,2009

5. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: New cases and review of the literature;Begemann;Journal of Medical Genetics,2012

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?;Molecular Cytogenetics;2024-03-14

2. Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes;Molecular Cytogenetics;2022-05-13

3. Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases;Molecular Biology;2022-01

4. New Horizons in Short Children Born Small for Gestational Age;Frontiers in Pediatrics;2021-05-13

5. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome;Orphanet Journal of Rare Diseases;2021-01-22

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