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 *

154 related articles for article (PubMed ID: 38467738)

  • 41. Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.
    Krämer J; Beer M; Bode H; Winter B
    Front Genet; 2020; 11():972. PubMed ID: 33719327
    [TBL] [Abstract][Full Text] [Related]  

  • 42. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
    Radenkovic S; Martinelli D; Zhang Y; Preston GJ; Maiorana A; Terracciano A; Dentici ML; Pisaneschi E; Novelli A; Ranatunga W; Ligezka AN; Ghesquière B; Deyle DR; Kozicz T; Pinto E Vairo F; Witters P; Morava E
    Genet Med; 2022 Apr; 24(4):894-904. PubMed ID: 35042660
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
    Stessman HAF; Willemsen MH; Fenckova M; Penn O; Hoischen A; Xiong B; Wang T; Hoekzema K; Vives L; Vogel I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Klein Wassink-Ruiter JS; Stumpel C; Stevens SJC; Vles HS; Marcelis CM; van Bokhoven H; Cantagrel V; Colleaux L; Nicouleau M; Lyonnet S; Bernier RA; Gerdts J; Coe BP; Romano C; Alberti A; Grillo L; Scuderi C; Nordenskjöld M; Kvarnung M; Guo H; Xia K; Piton A; Gerard B; Genevieve D; Delobel B; Lehalle D; Perrin L; Prieur F; Thevenon J; Gecz J; Shaw M; Pfundt R; Keren B; Jacquette A; Schenck A; Eichler EE; Kleefstra T
    Am J Hum Genet; 2016 Mar; 98(3):541-552. PubMed ID: 26942287
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
    Valenzuela I; Codina M; Fernández-Álvarez P; Mur P; Valle L; Tizzano EF; Cuscó I
    Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Mutations in
    Woodbury-Smith M; Deneault E; Yuen RKC; Walker S; Zarrei M; Pellecchia G; Howe JL; Hoang N; Uddin M; Marshall CR; Chrysler C; Thompson A; Szatmari P; Scherer SW
    Mol Autism; 2017; 8():59. PubMed ID: 29152164
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
    Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M
    Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
    Kharrat M; Issa AB; Tlili A; Jallouli O; Alila-Fersi O; Maalej M; Chouchen J; Ghouylia Y; Kamoun F; Triki C; Fakhfakh F
    J Mol Neurosci; 2023 Oct; 73(9-10):853-864. PubMed ID: 37817054
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Expansion of the Genotypic and Phenotypic Spectrum of
    Cordova I; Blesson A; Savatt JM; Sveden A; Mahida S; Hazlett H; Rooney Riggs E; Chopra M;
    Genes (Basel); 2024 Mar; 15(4):. PubMed ID: 38674358
    [TBL] [Abstract][Full Text] [Related]  

  • 49. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H; Zhang Q; Dai R; Yu B; Hoekzema K; Tan J; Tan S; Jia X; Chung WK; Hernan R; Alkuraya FS; Alsulaiman A; Al-Muhaizea MA; Lesca G; Pons L; Labalme A; Laux L; Bryant E; Brown NJ; Savva E; Ayres S; Eratne D; Peeters H; Bilan F; Letienne-Cejudo L; Gilbert-Dussardier B; Ruiz-Arana IL; Merlini JM; Boizot A; Bartoloni L; Santoni F; Karlowicz D; McDonald M; Wu H; Hu Z; Chen G; Ou J; Brasch-Andersen C; Fagerberg CR; Dreyer I; Chun-Hui Tsai A; Slegesky V; McGee RB; Daniels B; Sellars EA; Carpenter LA; Schaefer B; Sacoto MJG; Begtrup A; Schnur RE; Punj S; Wentzensen IM; Rhodes L; Pan Q; Bernier RA; Chen C; Eichler EE; Xia K
    Am J Hum Genet; 2020 Nov; 107(5):963-976. PubMed ID: 33157009
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
    Torun D; Arslan M; Çavdarlı B; Akar H; Cram DS
    Turk J Pediatr; 2022; 64(5):956-963. PubMed ID: 36305450
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
    Ghorashi T; Darvish H; Bakhtiari S; Tafakhori A; Kruer MC; Mozdarani H
    Neurogenetics; 2023 Oct; 24(4):311-316. PubMed ID: 37668766
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Biallelic
    Young N; Asif M; Jackson M; Fernández-Mayoralas DM; de la Peña MJ; Calleja-Pérez B; Álvarez S; Hunter-Featherstone E; Noegel AA; Höhne W; Nürnberg P; Obara B; Hussain MS; Karakesisoglou I; Fernández-Jaén A
    Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573277
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
    Breen MS; Garg P; Tang L; Mendonca D; Levy T; Barbosa M; Arnett AB; Kurtz-Nelson E; Agolini E; Battaglia A; Chiocchetti AG; Freitag CM; Garcia-Alcon A; Grammatico P; Hertz-Picciotto I; Ludena-Rodriguez Y; Moreno C; Novelli A; Parellada M; Pascolini G; Tassone F; Grice DE; Di Marino D; Bernier RA; Kolevzon A; Sharp AJ; Buxbaum JD; Siper PM; De Rubeis S
    Am J Hum Genet; 2020 Sep; 107(3):555-563. PubMed ID: 32758449
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
    Vegas N; Cavallin M; Kleefstra T; de Boer L; Philbert M; Maillard C; Boddaert N; Munnich A; Hubert L; Bery A; Besmond C; Bahi-Buisson N
    Eur J Med Genet; 2018 Dec; 61(12):759-764. PubMed ID: 30268909
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Functional analysis of
    Pavinato L; Villamor-Payà M; Sanchiz-Calvo M; Andreoli C; Gay M; Vilaseca M; Arauz-Garofalo G; Ciolfi A; Bruselles A; Pippucci T; Prota V; Carli D; Giorgio E; Radio FC; Antona V; Giuffrè M; Ranguin K; Colson C; De Rubeis S; Dimartino P; Buxbaum JD; Ferrero GB; Tartaglia M; Martinelli S; Stracker TH; Brusco A
    J Med Genet; 2022 Feb; 59(2):170-179. PubMed ID: 33323470
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
    Gu Y; Xiang B; Zhu L; Ma X; Chen X; Cai T
    BMC Med Genet; 2020 May; 21(1):99. PubMed ID: 32393352
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.
    Banihashemi S; Tahmasebi-Birgani M; Mohammadiasl J; Hajjari M
    Eur J Med Genet; 2020 Apr; 63(4):103846. PubMed ID: 31978615
    [TBL] [Abstract][Full Text] [Related]  

  • 59. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
    Caglayan AO; Aktar F; Bilguvar K; Baranoski JF; Akgumus GT; Harmanci AS; Erson-Omay EZ; Yasuno K; Caksen H; Gunel M
    J Hum Genet; 2021 Feb; 66(2):215-218. PubMed ID: 32764695
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
    Gana S; Plumari M; Rossi E; Saracino A; Iorio M; Zanaboni MP; Orcesi S; Valente EM
    Am J Med Genet A; 2020 Nov; 182(11):2722-2726. PubMed ID: 32888391
    [TBL] [Abstract][Full Text] [Related]  

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