De novo deletion of chromosome 11q13.4–q14.3 in a boy with microcephaly, ptosis and developmental delay-Reference-Cited by-同舟云学术

De novo deletion of chromosome 11q13.4–q14.3 in a boy with microcephaly, ptosis and developmental delay

Published:2010-01 Issue:1 Volume:53 Page:50-53
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wincent Josephine,Schoumans Jacqueline,Anderlid Britt Marie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

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2. Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings;Cox;Clin. Dysmorphol.,2008

3. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities;Feenstra;Eur. J. Med. Genet.,2006

4. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources;Firth;Am. J. Hum. Genet.,2009

5. Interstitial deletion of 11q;Guc-Scekic;J. Med. Genet.,1989

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1. De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature;Clinical Dysmorphology;2022-07-15

2. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism;Taiwanese Journal of Obstetrics and Gynecology;2021-01

3. Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region;Cytogenetic and Genome Research;2020

4. Glycoprotein A repetitions predominant (GARP) positively regulates transforming growth factor (TGF) β3 and is essential for mouse palatogenesis;Journal of Biological Chemistry;2017-11

5. Silencing TAK1 alters gene expression signatures in bladder cancer cells;Oncology Letters;2017-03-07