A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes-Reference-Cited by-同舟云学术

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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Published:2016-03-01 Issue:1 Volume:8 Page:
ISSN:1868-7075
Container-title:Clinical Epigenetics
language:en
Short-container-title:Clin Epigenet

Author:

Russo Silvia,Calzari Luciano,Mussa Alessandro,Mainini Ester,Cassina Matteo,Di Candia Stefania,Clementi Maurizio,Guzzetti Sara,Tabano Silvia,Miozzo Monica,Sirchia Silvia,Finelli Palma,Prontera Paolo,Maitz Silvia,Sorge Giovanni,Calcagno Annalisa,Maghnie Mohamad,Divizia Maria Teresa,Melis Daniela,Manfredini Emanuela,Ferrero Giovanni Battista,Pecile Vanna,Larizza Lidia

Funder

Ministero dell’Istruzione, dell’Università e della Ricerca (IT)

Ministero della Salute (IT)

European Cooperation in Science and Technology (BE)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Genetics,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13148-016-0183-8

Reference41 articles.

1. Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harb Perspect Biol. 2011;3(7). doi: 10.1101/cshperspect.a002592 .

2. Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russel syndromes. Clin Genet. 2012;81(4):350–61. doi: 10.1111/j.1399-0004.2011.01822.x .

3. Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C: Semin Med Genet. 2013;163C(2):131–40. doi: 10.1002/ajmg.c.31363 .

4. Azzi S, Abi Habib W, Netchine I. Beckwith-Wiedemann and Russel-Silver syndromes: from new molecular insights to the comprehension of imprinting regulation. Curr Opin Endocrinol Diabetes Obes. 2014;21(1):30–8. doi: 10.1097/MED.0000000000000037 .

5. Jacob KJ, Robinson WP, Lefebvre L. Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth. Clin Genet. 2013;84(4):326–34. doi: 10.1111/cge.12143 .

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1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis;Clinical Epigenetics;2024-08-01

2. Approach to the Patient With Suspected Silver-Russell Syndrome;The Journal of Clinical Endocrinology & Metabolism;2024-06-18

3. Morphometric Measurements of Intraoral Anatomy in Children with Beckwith-Wiedemann Syndrome: A Prospective Study and Novel Approach;2024-06-04

4. Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines;International Journal of Molecular Sciences;2024-03-22

5. First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions;Molecular Genetics & Genomic Medicine;2023-07-31

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