These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 29572195)

  • 41. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
    Kuroda Y; Ohashi I; Naruto T; Ida K; Enomoto Y; Saito T; Nagai J; Wada T; Kurosawa K
    Am J Med Genet A; 2015 Jun; 167(6):1349-53. PubMed ID: 25900396
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.
    Bouasse M; Impheng H; Servant Z; Lory P; Monteil A
    Sci Rep; 2019 Aug; 9(1):11791. PubMed ID: 31409833
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
    Nguyen TTM; Murakami Y; Wigby KM; Baratang NV; Rousseau J; St-Denis A; Rosenfeld JA; Laniewski SC; Jones J; Iglesias AD; Jones MC; Masser-Frye D; Scheuerle AE; Perry DL; Taft RJ; Le Deist F; Thompson M; Kinoshita T; Campeau PM
    Am J Hum Genet; 2018 Oct; 103(4):602-611. PubMed ID: 30269814
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
    Basel-Vanagaite L; Yilmaz R; Tang S; Reuter MS; Rahner N; Grange DK; Mortenson M; Koty P; Feenstra H; Farwell Gonzalez KD; Sticht H; Boddaert N; Désir J; Anyane-Yeboa K; Zweier C; Reis A; Kubisch C; Jewett T; Zeng W; Borck G
    Hum Genet; 2014 Jul; 133(7):939-49. PubMed ID: 24615390
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Periodic breathing in patients with NALCN mutations.
    Bourque DK; Dyment DA; MacLusky I; Kernohan KD; ; McMillan HJ
    J Hum Genet; 2018 Oct; 63(10):1093-1096. PubMed ID: 29968795
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Three M syndrome 2 in two Indian patients.
    Jacob P; Girisha KM
    Am J Med Genet A; 2021 Feb; 185(2):614-616. PubMed ID: 33135300
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
    Rahikkala E; Myllykoski M; Hinttala R; Vieira P; Nayebzadeh N; Weiss S; Plomp AS; Bittner RE; Kurki MI; Kuismin O; Lewis AM; Väisänen ML; Kokkonen H; Westermann J; Bernert G; Tuominen H; Palotie A; Aaltonen L; Yang Y; Potocki L; Moilanen J; van Koningsbruggen S; Wang X; Schmidt WM; Koivunen P; Uusimaa J
    Genet Med; 2019 Oct; 21(10):2355-2363. PubMed ID: 30940925
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
    Nakagawa T; Taniguchi-Ikeda M; Murakami Y; Nakamura S; Motooka D; Emoto T; Satake W; Nishiyama M; Toyoshima D; Morisada N; Takada S; Tairaku S; Okamoto N; Morioka I; Kurahashi H; Toda T; Kinoshita T; Iijima K
    Am J Med Genet A; 2016 Jan; 170A(1):183-8. PubMed ID: 26419326
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.
    Kelesoglu FM; Kaya M; Sayili ET
    Am J Med Genet A; 2023 Jul; 191(7):1959-1962. PubMed ID: 37067163
    [TBL] [Abstract][Full Text] [Related]  

  • 51. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
    Karimzadeh MR; Omidi F; Sahebalzamani A; Saeidi K
    J Mol Neurosci; 2021 Dec; 71(12):2566-2574. PubMed ID: 34041686
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.
    Kaushik P; Mahajan N; Girimaji SC; Kumar A
    J Mol Neurosci; 2020 Aug; 70(8):1225-1228. PubMed ID: 32170714
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
    Davids M; Menezes M; Guo Y; McLean SD; Hakonarson H; Collins F; Worgan L; Billington CJ; Maric I; Littlejohn RO; Onyekweli T; Members Of The Udn ; Adams DR; Tifft CJ; Gahl WA; Wolfe LA; Christodoulou J; Malicdan MCV
    Mol Genet Metab; 2020 May; 130(1):49-57. PubMed ID: 32165008
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
    Fukuda T; Hiraide T; Yamoto K; Nakashima M; Kawai T; Yanagi K; Ogata T; Saitsu H
    Eur J Med Genet; 2020 Apr; 63(4):103804. PubMed ID: 31698099
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
    Hunt D; Leventer RJ; Simons C; Taft R; Swoboda KJ; Gawne-Cain M; ; Magee AC; Turnpenny PD; Baralle D
    J Med Genet; 2014 Dec; 51(12):806-13. PubMed ID: 25342064
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
    Goldsmith H; Wells A; Sá MJN; Williams M; Heussler H; Buckman M; Pfundt R; de Vries BBA; Goel H
    Am J Med Genet A; 2019 Sep; 179(9):1872-1877. PubMed ID: 31207095
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.
    Fu L; Liu Y; Chen Y; Yuan Y; Wei W
    BMC Pediatr; 2019 Feb; 19(1):68. PubMed ID: 30813920
    [TBL] [Abstract][Full Text] [Related]  

  • 59. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
    Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
    [TBL] [Abstract][Full Text] [Related]  

  • 60. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
    Fritzen D; Kuechler A; Grimmel M; Becker J; Peters S; Sturm M; Hundertmark H; Schmidt A; Kreiß M; Strom TM; Wieczorek D; Haack TB; Beck-Wödl S; Cremer K; Engels H
    Hum Genet; 2018 May; 137(5):401-411. PubMed ID: 29796876
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.