A 2.6Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears-Reference-Cited by-同舟云学术

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A 2.6Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

Published:2007-07 Issue:4 Volume:50 Page:315-321
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Caselli R.,Mencarelli M.A.,Papa F.T.,Uliana V.,Schiavone S.,Strambi M.,Pescucci C.,Ariani F.,Rossi V.,Longo I.,Meloni I.,Renieri A.,Mari F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

1. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;Am. J. Med. Genet. A,2006

2. DARPP-32: regulator of the efficacy of dopaminergic neurotransmission;Fienberg;Science,1998

3. Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6;Fryns;Ann. Genet.,1991

4. Mouse brain localization of the protein kinase C-enhanced phosphatase 1 inhibitor KEPI (kinase C-enhanced PP1 inhibitor);Gong;Neuroscience,2005

5. Beyond the dopamine receptor: the DARPP-32/protein phosphatase-1 cascade;Greengard;Neuron,1999

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. KEPI plays a negative role in the repression that accompanies translational inhibition guided by the uORF element of human CHOP transcript during stress response;Gene;2022-04

2. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility;European Journal of Human Genetics;2021-08-30

3. A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome;European Journal of Medical Genetics;2020-04

4. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations;Clinical Genetics;2017-08-21

5. 6q25.1 (TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy;American Journal of Medical Genetics Part A;2017-05-02

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