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 *

672 related articles for article (PubMed ID: 27436265)

  • 1. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Diagnosis and clinical presentation of two individuals with a rare
    Schneeweiss MR; Dale B; Ejaz R
    BMJ Case Rep; 2022 Dec; 15(12):. PubMed ID: 36593604
    [No Abstract]   [Full Text] [Related]  

  • 5. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
    Lévy J; Cogan G; Maruani A; Maillard A; Dupont C; Drunat S; Rachid M; Atzori P; Delorme R; Jeyarajah S; Isidor B; Pichon O; Moradkhani K; Verloes A; Tabet AC
    Clin Genet; 2022 Mar; 101(3):364-370. PubMed ID: 34904221
    [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. 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]  

  • 8. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
    Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
    Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
    Sapey-Triomphe LA; Reversat J; Lesca G; Chatron N; Bussa M; Mazoyer S; Schmitz C; Sonié S; Edery P
    Hum Genomics; 2020 Sep; 14(1):32. PubMed ID: 32948248
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
    Torti E; Keren B; Palmer EE; Zhu Z; Afenjar A; Anderson IJ; Andrews MV; Atkinson C; Au M; Berry SA; Bowling KM; Boyle J; Buratti J; Cathey SS; Charles P; Cogne B; Courtin T; Escobar LF; Finley SL; Graham JM; Grange DK; Heron D; Hewson S; Hiatt SM; Hibbs KA; Jayakar P; Kalsner L; Larcher L; Lesca G; Mark PR; Miller K; Nava C; Nizon M; Pai GS; Pappas J; Parsons G; Payne K; Putoux A; Rabin R; Sabatier I; Shinawi M; Shur N; Skinner SA; Valence S; Warren H; Whalen S; Crunk A; Douglas G; Monaghan KG; Person RE; Willaert R; Solomon BD; Juusola J
    Genet Med; 2019 Sep; 21(9):2036-2042. PubMed ID: 30739909
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
    Babbs C; Lloyd D; Pagnamenta AT; Twigg SR; Green J; McGowan SJ; Mirza G; Naples R; Sharma VP; Volpi EV; Buckle VJ; Wall SA; Knight SJ; ; Parr JR; Wilkie AO
    J Med Genet; 2014 Nov; 51(11):737-47. PubMed ID: 25228304
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
    Reis VN; Kitajima JP; Tahira AC; Feio-Dos-Santos AC; Fock RA; Lisboa BC; Simões SN; Krepischi AC; Rosenberg C; Lourenço NC; Passos-Bueno MR; Brentani H
    PLoS One; 2017; 12(1):e0170386. PubMed ID: 28118382
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.
    Das Bhowmik A; Dalal A
    Gene; 2015 Nov; 572(2):303-6. PubMed ID: 26321508
    [TBL] [Abstract][Full Text] [Related]  

  • 15. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
    Kloth K; Denecke J; Hempel M; Johannsen J; Strom TM; Kubisch C; Lessel D
    Eur J Med Genet; 2017 Sep; 60(9):494-498. PubMed ID: 28687526
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
    Grotto S; Drouin-Garraud V; Ounap K; Puusepp-Benazzouz H; Schuurs-Hoeijmakers J; Le Meur N; Chambon P; Fehrenbach S; van Bokhoven H; Frébourg T; de Brouwer AP; Saugier-Veber P
    Eur J Med Genet; 2014 Apr; 57(5):200-6. PubMed ID: 24462886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
    Kim N; Kim KH; Lim WJ; Kim J; Kim SA; Yoo HJ
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33374967
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
    von der Lippe C; Tveten K; Prescott TE; Holla ØL; Busk ØL; Burke KB; Sansbury FH; Baptista J; Fry AE; Lim D; Jolles S; Evans J; Osio D; Macmillan C; Bruno I; Faletra F; Climent S; Urreitzi R; Hoenicka J; Palau F; Cohen ASA; Engleman K; Zhou D; Amudhavalli SM; Jeanne M; Bonnet-Brilhault F; Lévy J; Drunat S; Derive N; Haug MG; Thorstensen WM
    Am J Med Genet A; 2022 Jan; 188(1):272-282. PubMed ID: 34515416
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
    Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.