Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes-Reference-Cited by-同舟云学术

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Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

Published:2016-03-11 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Sachwitz Jana,Strobl-Wildemann Getrud,Fekete György,Ambrozaitytė Laima,Kučinskas Vaidutis,Soellner Lukas,Begemann Matthias,Eggermann Thomas

Funder

COST

BMBF

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0280-8

Reference24 articles.

1. Eggermann T, Netchine I, Temple IK, Tumer Z, Monk D, Mackay D, Gronskov K, Riccio A, Linglart A, Maher ER. Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. Clinical epigenetics. 2015;7(1):23.

2. Liehr T. Cases with uniparental disomy [ http://upd-tl.com/upd.html ]. Accessed Nov 2015.

3. Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, et al. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. Clin Genet. 2012;81(3):265–71.

4. Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet A. 2005;136(3):287–305.

5. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015;52(7):446–53.

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1. Clinical features associated with maternal uniparental disomy for chromosome 6;Molecular Cytogenetics;2024-07-29

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

3. Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2021-11

4. Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus;Taiwanese Journal of Obstetrics and Gynecology;2021-05

5. Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2021-03

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