Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations-Reference-Cited by-同舟云学术

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Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

Published:2019-05 Issue: Volume:695 Page:12-17
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Madrigal I.,Rabionet R.,Alvarez-Mora M.I.,Sanchez A.,Rodríguez-Revenga L.,Estivill X.,Mila M.

Funder

Instituto de Salud Carlos III

Fondo Europeo de Desarrollo Regional

Autonomous Catalan Government

Fundación Alicia Koplowitz

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference28 articles.

1. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia;Abdollahi;Am. J. Hum. Genet.,2009

2. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

3. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations;Bahi-Buisson;J. Med. Genet.,2008

4. Genomic diagnosis for children with intellectual disability and/or developmental delay;Bowling;Genome Med.,2017

5. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities;Breuss;Cell Rep.,2012

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1. Beta-Tubulin Gene Tubb2a Related Epilepsy: Genotype-Phenotype Correlation and Functional Study of Novel Variants;2024

2. Editorial: Tubulinopathies: fundamental and clinical challenges;Frontiers in Cellular Neuroscience;2023-10-13

3. Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I ( TUBB ) variant;British Journal of Haematology;2022-10-07

4. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations;PLOS Computational Biology;2022-10-07

5. Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type;Molecular Genetics & Genomic Medicine;2022-06-23

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