27545675 29938792 30887513 31236915 31670473 31943778[uid] - Search Results

Year	Number of Results
2016	1
2018	1
2019	3
2020	2
2024	0

1

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.

2

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792

3

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

4

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.

5

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Somashekar PH, Narayanan DL, Jagadeesh S, Suresh B, Vaishnavi RD, Bielas S, Girisha KM, Shukla A. Somashekar PH, et al. 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.

6

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Peron A, Novara F, La Briola F, Merati E, Giannusa E, Segalini E, Anniballi G, Vignoli A, Ciccone R, Canevini MP. Peron A, et al. Am J Med Genet A. 2020 Apr;182(4):823-828. doi: 10.1002/ajmg.a.61486. Epub 2020 Jan 14. Am J Med Genet A. 2020. PMID: 31943778

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