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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2005 | 1 |
2007 | 2 |
2008 | 1 |
2009 | 1 |
2010 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (cited) for id: 300263
7 results
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Page 1
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv. 2022 Mar 26;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35469323
Free PMC article.
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.
Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ, Ratcliffe PJ, Schofield CJ.
Loenarz C, et al.
Hum Mol Genet. 2010 Jan 15;19(2):217-22. doi: 10.1093/hmg/ddp480. Epub 2009 Oct 19.
Hum Mol Genet. 2010.
PMID: 19843542
Free PMC article.
Item in Clipboard
Autism-associated familial microdeletion of Xp11.22.
Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.
Qiao Y, et al.
Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.
Clin Genet. 2008.
PMID: 18498374
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Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.
Koivisto AM, Ala-Mello S, Lemmelä S, Komu HA, Rautio J, Järvelä I.
Koivisto AM, et al.
Clin Genet. 2007 Aug;72(2):145-9. doi: 10.1111/j.1399-0004.2007.00836.x.
Clin Genet. 2007.
PMID: 17661819
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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.
Abidi F, Miano M, Murray J, Schwartz C.
Abidi F, et al.
Clin Genet. 2007 Jul;72(1):19-22. doi: 10.1111/j.1399-0004.2007.00817.x.
Clin Genet. 2007.
PMID: 17594395
Free PMC article.
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S.
Laumonnier F, et al.
J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439.
J Med Genet. 2005.
PMID: 16199551
Free PMC article.
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X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
Siderius LE, Hamel BC, van Bokhoven H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC.
Siderius LE, et al.
Am J Med Genet. 1999 Jul 30;85(3):216-20.
Am J Med Genet. 1999.
PMID: 10398231
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