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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1999 | 1 |
2003 | 1 |
2016 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 1 |
2024 | 0 |
PubMed for id: 157823787
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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.
J Med Genet. 2019.
PMID: 30487245
Free PMC article.
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J.
Bruel AL, et al.
Clin Genet. 2017 Feb;91(2):333-338. doi: 10.1111/cge.12794. Epub 2016 Jun 5.
Clin Genet. 2017.
PMID: 27103078
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Cell-autonomous involvement of Mab21l1 is essential for lens placode development.
Yamada R, Mizutani-Koseki Y, Hasegawa T, Osumi N, Koseki H, Takahashi N.
Yamada R, et al.
Development. 2003 May;130(9):1759-70. doi: 10.1242/dev.00399.
Development. 2003.
PMID: 12642482
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Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development.
Mariani M, Baldessari D, Francisconi S, Viggiano L, Rocchi M, Zappavigna V, Malgaretti N, Consalez GG.
Mariani M, et al.
Hum Mol Genet. 1999 Dec;8(13):2397-406. doi: 10.1093/hmg/8.13.2397.
Hum Mol Genet. 1999.
PMID: 10556287
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