7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature-Reference-Cited by-同舟云学术

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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

Published:2015-11 Issue:11 Volume:58 Page:578-583
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Caselli Rossella,Ballarati Lucia,Vignoli Aglaia,Peron Angela,Recalcati Maria Paola,Catusi Ilaria,Larizza Lidia,Giardino Daniela

Funder

IAI

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference16 articles.

1. Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region;AlFardan;Clin. Dysmorphol.,2011

2. Common recurrent microduplication syndromes: diagnosis and management in clinical practice;Berg;Am. J. Med. Genet. A,2010

3. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH;Chui;Am. J. Med. Genet. A,2011

4. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth;Douglas;Nat. Genet.,2007

5. The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc;Greer;Cell,2010

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1. Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis;Cancers;2024-07-11

2. 7p22.2 Microduplication: A Pathogenic CNV?;Genes;2023-06-19

3. Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma;2023-04-19

4. 1p31.1 microdeletion including only NEGR1 gene in two patients;European Journal of Medical Genetics;2020-06

5. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders;European Journal of Medical Genetics;2018-05

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