171 related articles for article (PubMed ID: 31670473)
1. 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
Am J Med Genet A; 2020 Jan; 182(1):183-188. PubMed ID: 31670473
[TBL] [Abstract][Full Text] [Related]
2. 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
Am J Med Genet A; 2020 Apr; 182(4):823-828. PubMed ID: 31943778
[TBL] [Abstract][Full Text] [Related]
3. 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
Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471
[TBL] [Abstract][Full Text] [Related]
4. 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
Am J Hum Genet; 2016 Sep; 99(3):728-734. PubMed ID: 27545675
[TBL] [Abstract][Full Text] [Related]
5. 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
Clin Genet; 2018 Oct; 94(3-4):381-385. PubMed ID: 29938792
[TBL] [Abstract][Full Text] [Related]
6. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
7. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
8. A novel
Iida A; Takano K; Takeshita E; Abe-Hatano C; Hirabayashi S; Inaba Y; Kosugi S; Kamatani Y; Momozawa Y; Kubo M; Nakagawa E; Inoue K; Goto YI
Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31444167
[TBL] [Abstract][Full Text] [Related]
9. 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
Clin Genet; 2019 Aug; 96(2):183-185. PubMed ID: 31236915
[TBL] [Abstract][Full Text] [Related]
10. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C;
Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
12. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E; Rondeau S; Giuliano F; Kossorotoff M; Parodi M; Gherbi S; Steffan J; Jonard L; Marlin S
Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
[TBL] [Abstract][Full Text] [Related]
13. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A; Blasco L; Vidal S; Gean E; Rubio P; O'Callaghan M; Martínez-Monseny AF; Castells AA; Xiol C; Català V; Brandi N; Pacheco P; Ros C; Del Campo M; Guillén E; Ibañez S; Sánchez MJ; Lapunzina P; Nevado J; Santos F; Lloveras E; Ortigoza-Escobar JD; Tejada MI; Maortua H; Martínez F; Orellana C; Roselló M; Mesas MA; Obón M; Plaja A; Fernández-Ramos JA; Tizzano E; Marín R; Peña-Segura JL; Alcántara S; Armstrong J
Clin Genet; 2020 Apr; 97(4):610-620. PubMed ID: 32043567
[TBL] [Abstract][Full Text] [Related]
14. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
15. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
Bouazzi H; Thakur S; Trujillo C; Alwasiyah MK; Munnich A
Indian J Med Res; 2016 Jan; 143(1):43-8. PubMed ID: 26997013
[TBL] [Abstract][Full Text] [Related]
16. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Alharby E; Albalawi AM; Nasir A; Alhijji SA; Mahmood A; Ramzan K; Abdusamad F; Aljohani A; Abdelsalam O; Eldardear A; Basit S
Clin Genet; 2017 Dec; 92(6):579-586. PubMed ID: 28542722
[TBL] [Abstract][Full Text] [Related]
17. A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Türay S; Eröz R; Başak AN
Neurogenetics; 2021 May; 22(2):127-132. PubMed ID: 33909173
[TBL] [Abstract][Full Text] [Related]
18. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Lambert S; Maystadt I; Boulanger S; Vrielynck P; Destrée A; Lederer D; Moortgat S
Eur J Med Genet; 2016 Oct; 59(10):522-5. PubMed ID: 27465203
[TBL] [Abstract][Full Text] [Related]
19. Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Schirwani S; Wakeling E; Smith K; ; Balasubramanian M
Am J Med Genet A; 2018 May; 176(5):1238-1244. PubMed ID: 29681091
[TBL] [Abstract][Full Text] [Related]
20. 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
Res Dev Disabil; 2021 Dec; 119():104110. PubMed ID: 34794115
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]