A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis-Reference-Cited by-同舟云学术

A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

Published:2008-01 Issue:1 Volume:51 Page:87-91
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Andrieux Joris,Cuvellier Jean-Christophe,Duban-Bedu Bénédicte,Joriot-Chekaf Sylvie,Dieux-Coeslier Anne,Manouvrier-Hanu Sylvie,Delobel Bruno,Vallee Louis

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

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2. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am. J. Hum. Genet.,2007

3. Submicroscopic subtelomeric 1qter deletions: a recognizable phenotype?;De Vries;J. Med. Genet.,2001

4. Telomeres: a diagnosis at the end of the chromosomes;De Vries;J. Med. Genet.,2003

5. Role for Akt3/protein kinase Bgamma in attainment of normal brain size;Easton;Mol. Cell. Biol.,2005

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1. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities;American Journal of Medical Genetics Part A;2023-09-25

2. Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review;Molecular Cytogenetics;2022-10-03

3. C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis;Frontiers in Neurology;2020-02-14

4. Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report;Gene;2017-06

5. Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum;Molecular Syndromology;2015-09-11