Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia

Published:2018-08 Issue:8 Volume:61 Page:442-450
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Moortgat Stéphanie,Lederer Damien,Deprez Marie,Buzatu Marga,Clapuyt Philippe,Boulanger Sébastien,Benoit Valérie,Mary Sandrine,Guichet Agnès,Ziegler Alban^ORCID,Colin Estelle,Bonneau Dominique,Maystadt Isabelle

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference33 articles.

1. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance;Al-Owain;Clin. Genet.,2011

2. Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability;Allegra;Neurobiol. Dis.,2017

3. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia;Bergmann;Brain,2003

4. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation;Bienvenu;Eur. J. Hum. Genet.,1997

5. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation;Billuart;Nature,1998

Cited by 10 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. Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay;BMC Medical Genomics;2024-07-02

2. Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India;Case Reports in Genetics;2024-01

3. The First Cases of OPHN1 Exons 1 and 2 Deletion in Two X-linked Intellectual Developmental Disorder Patients in Korea;Laboratory Medicine Online;2023-04-01

4. A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay;Gene Reports;2022-06

5. Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex;Neuron;2021-05