A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features-Reference-Cited by-同舟云学术

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

Published:2007-07 Issue:4 Volume:50 Page:256-263
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kirchhoff Maria,Bisgaard Anne-Marie,Duno Morten,Hansen Flemming Juul,Schwartz Marianne

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

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3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am. J. Hum. Genet.,2007

4. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions;Kirchhoff;Eur. J. Med. Genet.,2007

5. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism;Koolen;Nat. Genet.,2006

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1. 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability;Reports;2023-07-04

2. Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?;Frontiers in Genetics;2023-01-09

3. Brain structural abnormalities and cognitive changes in a patient with 17q21.31 microduplication and early onset dementia: a case report;Journal of Neurology;2022-10-15

4. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders;BMC Medical Genomics;2021-06-09

5. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition;PLOS Genetics;2017-07-13