BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

284 related articles for article (PubMed ID: 33766796)

  • 1. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
    Chen M; Quan Y; Duan G; Wu H; Bai T; Wang Y; Zhou S; Ou J; Shen Y; Hu Z; Xia K; Guo H
    Eur J Med Genet; 2021 May; 64(5):104200. PubMed ID: 33766796
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlation at codon 1740 of SETD2.
    Rabin R; Radmanesh A; Glass IA; Dobyns WB; Aldinger KA; Shieh JT; Romoser S; Bombei H; Dowsett L; Trapane P; Bernat JA; Baker J; Mendelsohn NJ; Popp B; Siekmeyer M; Sorge I; Sansbury FH; Watts P; Foulds NC; Burton J; Hoganson G; Hurst JA; Menzies L; Osio D; Kerecuk L; Cobben JM; Jizi K; Jacquemont S; Bélanger SA; Löhner K; Veenstra-Knol HE; Lemmink HH; Keller-Ramey J; Wentzensen IM; Punj S; McWalter K; Lenberg J; Ellsworth KA; Radtke K; Akbarian S; Pappas J
    Am J Med Genet A; 2020 Sep; 182(9):2037-2048. PubMed ID: 32710489
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
    Li Y; Jia X; Wu H; Xun G; Ou J; Zhang Q; Li H; Bai T; Hu Z; Zou X; Xia K; Guo H
    Am J Med Genet A; 2018 Dec; 176(12):2668-2676. PubMed ID: 30537371
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
    Marzin P; Rondeau S; Aldinger KA; Alessandri JL; Isidor B; Heron D; Keren B; Dobyns WB; Cormier-Daire V
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):509-518. PubMed ID: 31643139
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
    Lumish HS; Wynn J; Devinsky O; Chung WK
    J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
    van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ
    Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Tlemsani C; Luscan A; Leulliot N; Bieth E; Afenjar A; Baujat G; Doco-Fenzy M; Goldenberg A; Lacombe D; Lambert L; Odent S; Pasche J; Sigaudy S; Buffet A; Violle-Poirsier C; Briand-Suleau A; Laurendeau I; Chin M; Saugier-Veber P; Vidaud D; Cormier-Daire V; Vidaud M; Pasmant E; Burglen L
    J Med Genet; 2016 Nov; 53(11):743-751. PubMed ID: 27317772
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical Heterogeneity and Different Phenotypes in Patients with
    Parra A; Rabin R; Pappas J; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; Santana A; Arroyo I; Artigas M; Pachajoa H; Alanay Y; Akgun-Dogan O; Ruaud L; Couque N; Levy J; Porras-Hurtado GL; Santos-Simarro F; Ballesta-Martinez MJ; Guillén-Navarro E; Muñoz-Hernández H; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P
    Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372360
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
    Han L; Chen M; Wang Y; Wu H; Quan Y; Bai T; Li K; Duan G; Gao Y; Hu Z; Xia K; Guo H
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
    Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
    An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
    Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
    Lee S; Menzies L; Hay E; Ochoa E; Docquier F; Rodger F; Deshpande C; Foulds NC; Jacquemont S; Jizi K; Kiep H; Kraus A; Löhner K; Morrison PJ; Popp B; Richardson R; van Haeringen A; Martin E; Toribio A; Li F; Jones WD; Sansbury FH; Maher ER
    Hum Mol Genet; 2023 Nov; 32(22):3123-3134. PubMed ID: 37166351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of
    Zhang Y; Zhang H; Wu W; Wang D; Lv Y; Zhao D; Wang L; Liu Y; Zhang K
    Front Genet; 2023; 14():1081391. PubMed ID: 36777730
    [No Abstract]   [Full Text] [Related]  

  • 14. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
    Le Duc D; Giulivi C; Hiatt SM; Napoli E; Panoutsopoulos A; Harlan De Crescenzo A; Kotzaeridou U; Syrbe S; Anagnostou E; Azage M; Bend R; Begtrup A; Brown NJ; Büttner B; Cho MT; Cooper GM; Doering JH; Dubourg C; Everman DB; Hildebrand MS; Santos FJR; Kellam B; Keller-Ramey J; Lemke JR; Liu S; Niyazov D; Payne K; Person R; Quélin C; Schnur RE; Smith BT; Strober J; Walker S; Wallis M; Walsh L; Yang S; Yuen RKC; Ziegler A; Sticht H; Pride MC; Orosco L; Martínez-Cerdeño V; Silverman JL; Crawley JN; Scherer SW; Zarbalis KS; Jamra R
    Brain; 2019 Sep; 142(9):2617-2630. PubMed ID: 31327001
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
    Quan Y; Zhang Q; Chen M; Wu H; Ou J; Shen Y; Li K; Xun G; Zhao J; Hu Z; Xia K; Guo H
    J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
    Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in SETD2 cause a novel overgrowth condition.
    Luscan A; Laurendeau I; Malan V; Francannet C; Odent S; Giuliano F; Lacombe D; Touraine R; Vidaud M; Pasmant E; Cormier-Daire V
    J Med Genet; 2014 Aug; 51(8):512-7. PubMed ID: 24852293
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.