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Quoted phrase not found in phrase index: "Intellectual disability, X-linked, syndromic, Bain type"
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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.
Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. ...
Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo he …
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R, Beenders S, LaMarca NM, Thornburg O, Rubin-Thompson L, Snow A, Goldman S, Chung WK, Bain JM. Salazar R, et al. Res Dev Disabil. 2021 Dec;119:104110. doi: 10.1016/j.ridd.2021.104110. Epub 2021 Nov 16. Res Dev Disabil. 2021. PMID: 34794115
AIMS: To describe the gross motor function of individuals with HNRNPH2-related disorder (OMIM 300986, Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB) and determine the associations between clinician-measured motor function and caregive …
AIMS: To describe the gross motor function of individuals with HNRNPH2-related disorder (OMIM 300986, Mental Retardation, X-linked …
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
The HNRNPH2-associated disease (mental retardation, X-linked, syndromic, Bain type [MRXSB, MIM #300986]) is caused by de novo mutations in the X-linked HNRNPH2 gene. ...An important difference between the two diseases is that the H …
The HNRNPH2-associated disease (mental retardation, X-linked, syndromic, Bain type [MRXSB, MIM #300986]) …
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ, Wagner M, Weigand H, McConkie-Rossell A, McDonald M, Keren B, Mignot C, Gauthier J, Soucy JF, Michaud JL, Dumas M, Smith R, Löbel U, Hempel M, Kubisch C, Denecke J, Campeau PM, Bain JM, Lessel D. Kreienkamp HJ, et al. Hum Genet. 2022 Feb;141(2):257-272. doi: 10.1007/s00439-021-02412-x. Epub 2021 Dec 14. Hum Genet. 2022. PMID: 34907471 Free PMC article.
Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. ...
Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense …
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
Missense variants in HNRNPH2 cause Bain type syndromic X-linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the phenotype has yet to be delin …
Missense variants in HNRNPH2 cause Bain type syndromic X-linked intellectual disability (XL …