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Year | Number of Results |
---|---|
1994 | 1 |
1995 | 1 |
2016 | 2 |
2019 | 3 |
2020 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 3188
7 results
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Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Am J Med Genet A. 2020 Jan;182(1):183-188. doi: 10.1002/ajmg.a.61388. Epub 2019 Oct 31.
Am J Med Genet A. 2020.
PMID: 31670473
Free PMC article.
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Jepsen WM, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, Bilagody C, De Both M, Gupta R, Naymik M, Pandey R, Piras IS, Sanchez-Castillo M, Rangasamy S, Narayanan V, Huentelman MJ.
Jepsen WM, et al.
Clin Genet. 2019 Aug;96(2):183-185. doi: 10.1111/cge.13580. Epub 2019 Jun 24.
Clin Genet. 2019.
PMID: 31236915
Free PMC article.
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Bain type of X-linked syndromic mental retardation in boys.
Harmsen S, Buchert R, Mayatepek E, Haack TB, Distelmaier F.
Harmsen S, et al.
Clin Genet. 2019 Jun;95(6):734-735. doi: 10.1111/cge.13524. Epub 2019 Mar 18.
Clin Genet. 2019.
PMID: 30887513
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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK.
Bain JM, et al.
Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18.
Am J Hum Genet. 2016.
PMID: 27545675
Free PMC article.
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Alternative Splicing of Neuronal Differentiation Factor TRF2 Regulated by HNRNPH1/H2.
Grammatikakis I, Zhang P, Panda AC, Kim J, Maudsley S, Abdelmohsen K, Yang X, Martindale JL, Motiño O, Hutchison ER, Mattson MP, Gorospe M.
Grammatikakis I, et al.
Cell Rep. 2016 May 3;15(5):926-934. doi: 10.1016/j.celrep.2016.03.080. Epub 2016 Apr 21.
Cell Rep. 2016.
PMID: 27117401
Free PMC article.
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Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22.
Vorechovský I, Vetrie D, Holland J, Bentley DR, Thomas K, Zhou JN, Notarangelo LD, Plebani A, Fontán G, Ochs HD, et al.
Vorechovský I, et al.
Genomics. 1994 Jun;21(3):517-24. doi: 10.1006/geno.1994.1310.
Genomics. 1994.
PMID: 7959728
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Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.
Honoré B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P, Madsen P, Gesser B, Tommerup N, Celis JE.
Honoré B, et al.
J Biol Chem. 1995 Dec 1;270(48):28780-9. doi: 10.1074/jbc.270.48.28780.
J Biol Chem. 1995.
PMID: 7499401
Free article.
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