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Journal Abstract Search

165 related items for PubMed ID: 33369188

  • 21. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [Abstract] [Full Text] [Related]

  • 22. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
    Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.
    Gene; 2017 Sep 10; 628():190-193. PubMed ID: 28694206
    [Abstract] [Full Text] [Related]

  • 23. Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
    Tang S, You J, Liu L, Ouyang H, Jiang N, Duan J, Li C, Luo Y, Zhang W, Zhan M, Liu C, Lyu GZ, Zhang VW, Zhao H.
    Mol Genet Genomic Med; 2023 Aug 10; 11(8):e2188. PubMed ID: 37488749
    [Abstract] [Full Text] [Related]

  • 24. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
    Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.
    Eur J Hum Genet; 2017 Feb 10; 25(2):183-191. PubMed ID: 27901041
    [Abstract] [Full Text] [Related]

  • 25. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
    Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.
    Hum Mol Genet; 2016 Feb 01; 25(3):597-608. PubMed ID: 26647312
    [Abstract] [Full Text] [Related]

  • 26. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
    Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G, Brehin AC.
    Eur J Med Genet; 2021 Apr 01; 64(4):104166. PubMed ID: 33571694
    [Abstract] [Full Text] [Related]

  • 27. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
    Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ.
    Am J Med Genet A; 2016 Dec 01; 170(12):3313-3318. PubMed ID: 27570168
    [Abstract] [Full Text] [Related]

  • 28. Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.
    Chawla T, Kumar NK, Goyal V.
    Parkinsonism Relat Disord; 2023 Dec 01; 117():105846. PubMed ID: 37690905
    [No Abstract] [Full Text] [Related]

  • 29. 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 Dec 01; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 30. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J, Broad Center for Mendelian GenomicsBroad Center for Mendelian Genomics, Cambridge, Massachusetts., DDD studyDDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Balasubramanian M.
    Am J Med Genet A; 2017 Nov 01; 173(11):3003-3012. PubMed ID: 28944577
    [Abstract] [Full Text] [Related]

  • 31. Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
    Lansdon LA, Fleming EA, Viso FD, Sullivan BR, Saunders CJ.
    Eur J Med Genet; 2021 Jul 01; 64(7):104243. PubMed ID: 33971351
    [Abstract] [Full Text] [Related]

  • 32. 17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
    Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA.
    Eur J Med Genet; 2020 Dec 01; 63(12):104094. PubMed ID: 33160097
    [Abstract] [Full Text] [Related]

  • 33. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
    Bae S, Yang A, Kim J, Lee HJ, Park HK.
    BMC Med Genomics; 2021 Dec 20; 14(1):297. PubMed ID: 34930245
    [Abstract] [Full Text] [Related]

  • 34. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
    Lee CG, Seol CA, Ki CS.
    Am J Med Genet A; 2020 Nov 20; 182(11):2788-2792. PubMed ID: 32902151
    [Abstract] [Full Text] [Related]

  • 35. Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.
    Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH.
    Medicine (Baltimore); 2020 Dec 18; 99(51):e23864. PubMed ID: 33371171
    [Abstract] [Full Text] [Related]

  • 36. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
    Prasad M, Balci TB, Prasad C, Andrews JD, Lee R, Jurkiewicz MT, Napier MP, Colaiacovo S, Guillen Sacoto MJ, Karp N.
    Eur J Med Genet; 2020 Sep 18; 63(9):104007. PubMed ID: 32659295
    [Abstract] [Full Text] [Related]

  • 37. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
    Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
    Am J Med Genet A; 2021 Apr 18; 185(4):1216-1221. PubMed ID: 33427397
    [Abstract] [Full Text] [Related]

  • 38. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H.
    Eur J Med Genet; 2020 Jan 18; 63(1):103611. PubMed ID: 30615951
    [Abstract] [Full Text] [Related]

  • 39. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
    Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M.
    Eur J Med Genet; 2018 May 18; 61(5):248-252. PubMed ID: 29274487
    [Abstract] [Full Text] [Related]

  • 40. Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
    Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E.
    Orphanet J Rare Dis; 2013 Jul 10; 8():100. PubMed ID: 23837398
    [Abstract] [Full Text] [Related]

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