FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother-Reference-Cited by-同舟云学术

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

Published:2010-12-10 Issue:1 Volume:155 Page:221-224
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cavani Simona,Prontera Paolo,Grasso Marina,Ardisia Carmela,Malacarne Michela,Gradassi Cristina,Cecconi Massimiliano,Mencarelli Amedea,Donti Emilio,Pierluigi Mauro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33515/fullpdf

Reference15 articles.

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2. Human SLITRK family genes: Genomic organization and expression profilino in normal brain and brain tumor tissue;Aruga;Gene,2003

3. A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient;Birot;Hum Mutat,1996

4. Characterization of a deletion ai Xq27-q28 associated with unbalanced inactivation of the non-mutant X chromosome;Clarke;Am J Hum Genet,1992

5. Mosaic FMR1 deletion causes Fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature;Coffee;Am J Med Genet Part A,2008

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3. Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies;Cellular Reprogramming;2020-08-01

4. Opposite Control of Excitatory and Inhibitory Synapse Formation by Slitrk2 and Slitrk5 on Dopamine Neurons Modulates Hyperactivity Behavior;Cell Reports;2020-02

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