Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH-Reference-Cited by-同舟云学术

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Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

Published:2009-01 Issue:1 Volume:52 Page:67-70
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Lo-Castro Adriana,Giana Grazia,Fichera Marco,Castiglia Lucia,Grillo Lucia,Musumeci Sebastiano Antonino,Galasso Cinzia,Curatolo Paolo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference9 articles.

1. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue;Aviram-Goldring;Am. J. Med. Genet.,2000

2. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH;Dee;J. Med. Genet.,2001

3. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter;Gruchy;Am. J. Med. Genet.,2007

4. SRY-box containing gene 11 (Sox11) transcription factor is required for neuron survival and neurite growth;Jankowski;Neuroscience,2006

5. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities;Ravnan;J. Med. Genet.,2006

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1. Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma;Life Science Alliance;2021-03-03

2. Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder;European Journal of Human Genetics;2019-01-18

3. Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome;Journal of Medical Genetics;2015-11-05

4. Keeping an eye on SOXC proteins;Developmental Dynamics;2014-12-21

5. Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis;PLoS Genetics;2014-07-10

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