BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 31721432)

  • 1. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
    Ostrowski PJ; Zachariou A; Loveday C; Beleza-Meireles A; Bertoli M; Dean J; Douglas AGL; Ellis I; Foster A; Graham JM; Hague J; Hilhorst-Hofstee Y; Hoffer M; Johnson D; Josifova D; Kant SG; Kini U; Lachlan K; Lam W; Lees M; Lynch S; Maitz S; McKee S; Metcalfe K; Nathanson K; Ockeloen CW; Parker MJ; Pierson TM; Rahikkala E; Sanchez-Lara PA; Spano A; Van Maldergem L; Cole T; Douzgou S; Tatton-Brown K
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):557-564. PubMed ID: 31721432
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
    Ostrowski PJ; Zachariou A; Loveday C; Baralle D; Blair E; Douzgou S; Field M; Foster A; Kyle C; Lachlan K; Mansour S; Naik S; Rea G; Smithson S; Sznajer Y; Thompson E; Cole T; Tatton-Brown K
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):638-643. PubMed ID: 31714006
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The clinical presentation caused by truncating CHD8 variants.
    Douzgou S; Liang HW; Metcalfe K; Somarathi S; Tischkowitz M; Mohamed W; Kini U; McKee S; Yates L; Bertoli M; Lynch SA; Holder S; ; Banka S
    Clin Genet; 2019 Jul; 96(1):72-84. PubMed ID: 31001818
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
    Dingemans AJM; Truijen KMG; van de Ven S; Bernier R; Bongers EMHF; Bouman A; de Graaff-Herder L; Eichler EE; Gerkes EH; De Geus CM; van Hagen JM; Jansen PR; Kerkhof J; Kievit AJA; Kleefstra T; Maas SM; de Man SA; McConkey H; Patterson WG; Dobson AT; Prijoles EJ; Sadikovic B; Relator R; Stevenson RE; Stumpel CTRM; Heijligers M; Stuurman KE; Löhner K; Zeidler S; Lee JA; Lindy A; Zou F; Tedder ML; Vissers LELM; de Vries BBA
    Transl Psychiatry; 2022 Oct; 12(1):421. PubMed ID: 36182950
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Rare SUZ12 variants commonly cause an overgrowth phenotype.
    Cyrus SS; Cohen ASA; Agbahovbe R; Avela K; Yeung KS; Chung BHY; Luk HM; Tkachenko N; Choufani S; Weksberg R; Lopez-Rangel E; ; Brown K; Saenz MS; Svihovec S; McCandless SE; Bird LM; Garcia AG; Gambello MJ; McWalter K; Schnur RE; An J; Jones SJM; Bhalla SK; Pinz H; Braddock SR; Gibson WT
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):532-547. PubMed ID: 31736240
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
    Sorrentino U; Boesch S; Doummar D; Ravelli C; Serranova T; Indelicato E; Winkelmann J; Burglen L; Jech R; Zech M
    J Neurol; 2024 May; 271(5):2859-2865. PubMed ID: 38441608
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The autism spectrum phenotype in ADNP syndrome.
    Arnett AB; Rhoads CL; Hoekzema K; Turner TN; Gerdts J; Wallace AS; Bedrosian-Sermone S; Eichler EE; Bernier RA
    Autism Res; 2018 Sep; 11(9):1300-1310. PubMed ID: 30107084
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
    Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Skeletal abnormalities in mice with Dnmt3a missense mutations.
    Bell-Hensley A; Beard DC; Feeney K; Zheng H; Jiang Y; Zhang X; Liu J; Gabel H; McAlinden A
    Bone; 2024 Jun; 183():117085. PubMed ID: 38522809
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
    Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
    Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
    Tatton-Brown K; Loveday C; Yost S; Clarke M; Ramsay E; Zachariou A; Elliott A; Wylie H; Ardissone A; Rittinger O; Stewart F; Temple IK; Cole T; ; Mahamdallie S; Seal S; Ruark E; Rahman N
    Am J Hum Genet; 2017 May; 100(5):725-736. PubMed ID: 28475857
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. HERC1 mutations in idiopathic intellectual disability.
    Utine GE; Taşkıran EZ; Koşukcu C; Karaosmanoğlu B; Güleray N; Doğan ÖA; Kiper PÖ; Boduroğlu K; Alikaşifoğlu M
    Eur J Med Genet; 2017 May; 60(5):279-283. PubMed ID: 28323226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.
    Jorge R; Silva C; Águeda S; Dória S; Leão M
    Am J Med Genet A; 2015 Nov; 167A(11):2839-43. PubMed ID: 26338046
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epigenetic Causes of Overgrowth Syndromes.
    Lui JC; Baron J
    J Clin Endocrinol Metab; 2024 Jan; 109(2):312-320. PubMed ID: 37450557
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Growth pattern of Rahman syndrome.
    Takenouchi T; Uehara T; Kosaki K; Mizuno S
    Am J Med Genet A; 2018 Mar; 176(3):712-714. PubMed ID: 29383847
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
    Tenorio J; Alarcón P; Arias P; Dapía I; García-Miñaur S; Palomares Bralo M; Campistol J; Climent S; Valenzuela I; Ramos S; Monseny AM; Grondona FL; Botet J; Serrano M; Solís M; Santos-Simarro F; Álvarez S; Teixidó-Tura G; Fernández Jaén A; Gordo G; Bardón Rivera MB; Nevado J; Hernández A; Cigudosa JC; Ruiz-Pérez VL; Tizzano EF; ; Lapunzina P
    Eur J Hum Genet; 2020 Apr; 28(4):469-479. PubMed ID: 31685998
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Tatton-Brown-Rahman syndrome: Six individuals with novel features.
    Balci TB; Strong A; Kalish JM; Zackai E; Maris JM; Reilly A; Surrey LF; Wertheim GB; Marcadier JL; Graham GE; Carter MT
    Am J Med Genet A; 2020 Apr; 182(4):673-680. PubMed ID: 31961069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.