Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate-Reference-Cited by-同舟云学术

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Published:2015-05-06 Issue:1 Volume:24 Page:51-58
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Breckpot Jeroen,Anderlid Britt-Marie,Alanay Yasemin,Blyth Moira,Brahimi Afane,Duban-Bedu Bénédicte,Gozé Odile,Firth Helen,Yakicier Mustafa Cengiz,Hens Greet,Rayyan Maissa,Legius Eric,Vermeesch Joris Robert,Devriendt Koen

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201565.pdf

Reference32 articles.

1. Levi B, Brugman S, Wong VW, Grova M, Longaker MT, Wan DC : Palatogenesis: engineering, pathways and pathologies. Organogenesis 2011; 7: 242–254.

2. Bush JO, Jiang R : Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development. Development 2012; 139: 231–243.

3. Dixon MJ, Marazita ML, Beaty TH, Murray JC : Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011; 12: 167–178.

4. Tan TY, Kilpatrick N, Farlie PG : Developmental and genetic perspectives on Pierre Robin sequence. Am J Med Genet C Semin Med Genet 2013; 163C: 295–305.

5. Gordon CT, Tan TY, Benko S, Fitzpatrick D, Lyonnet S, Farlie PG : Long-range regulation at the SOX9 locus in development and disease. J Med Genet 2009; 46: 649–656.

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1. Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome;CHIN J DENT RES;2024

2. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy;Molecular Syndromology;2023

3. Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1;Journal of Human Genetics;2022-08-15

4. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review;International Journal of Developmental Neuroscience;2021-11-04

5. Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree;Brain;2020-12-22