Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms-Reference-Cited by-同舟云学术

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

Published:2014-09 Issue:9 Volume:57 Page:513-519
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Fannemel Madeleine,Barøy Tuva,Holmgren Asbjørn,Rødningen Olaug K.,Haugsand Trine M.,Hansen Børre,Frengen Eirik^ORCID,Misceo Doriana

Funder

Southeastern Regional Health Authorities

Ullevål University Hospital Research Fund (VIRUUS)

Anders Jahres fond til vitenskapens fremme

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

1. Developmentally regulated activity of CRM1/XPO1 during early Xenopus embryogenesis;Callanan;J Cell Sci,2000

2. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;J Med Genet,2008

3. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis;de Leeuw;J Med Genet,2008

4. Further characterization of microdeletion syndrome involving 2p15-p16.1;Felix;Am J Med Genet A,2010

5. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features;Floor;Eur J Med Genet,2012

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1. Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report;The Application of Clinical Genetics;2024-07

2. Can Cell-Free DNA Testing Suffice for Isolated Fetal Nuchal Translucency Between the 95th – 99th Centile? A Retrospective Analysis in A Centre in North India;2024-04-05

3. XPO1 Enables Adaptive Regulation of mRNA Export Required for Genotoxic Stress Tolerance in Cancer Cells;Cancer Research;2023-10-06

4. Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes;Genes & Genomics;2023-02-20

5. The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism;Journal of Genetic Medicine;2022-12-31