Novel FOXG1 mutations associated with the congenital variant of Rett syndrome-Reference-Cited by-同舟云学术

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Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

Published:2009-07-02 Issue:1 Volume:47 Page:49-53
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Mencarelli M. A.,Spanhol-Rosseto A.,Artuso R.,Rondinella D.,De Filippis R.,Bahi-Buisson N.,Nectoux J.,Rubinsztajn R.,Bienvenu T.,Moncla A.,Chabrol B.,Villard L.,Krumina Z.,Armstrong J.,Roche A.,Pineda M.,Gak E.,Mari F.,Ariani F.,Renieri A.

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 91 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. Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis;Frontiers in Genetics;2024-03-18

2. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2024-03-08

3. The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders – Evidence from human neuronal cell models;Neuroscience & Biobehavioral Reviews;2023-10

4. Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry;Orphanet Journal of Rare Diseases;2023-06-12

5. Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome;Italian Journal of Pediatrics;2022-09-07

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