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Journal Abstract Search

431 related items for PubMed ID: 28574218

  • 1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
    Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC.
    Am J Med Genet A; 2017 Aug; 173(8):2246-2250. PubMed ID: 28574218
    [Abstract] [Full Text] [Related]

  • 2. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
    Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA.
    Am J Hum Genet; 2013 Oct 03; 93(4):727-34. PubMed ID: 24035193
    [Abstract] [Full Text] [Related]

  • 3. A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.
    Benítez EO, Morales JJ, Muñoz LA, Hübner CA, Mutchinick OM.
    Mol Syndromol; 2018 Feb 03; 9(2):110-114. PubMed ID: 29593478
    [Abstract] [Full Text] [Related]

  • 4. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
    Diaz J, Kane TD, Leon E.
    Am J Med Genet A; 2020 Mar 03; 182(3):425-430. PubMed ID: 31898852
    [Abstract] [Full Text] [Related]

  • 5. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M.
    Am J Med Genet A; 2018 Feb 03; 176(2):421-425. PubMed ID: 29226631
    [Abstract] [Full Text] [Related]

  • 6. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
    Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P.
    Am J Med Genet A; 2018 Aug 03; 176(8):1768-1772. PubMed ID: 30055029
    [Abstract] [Full Text] [Related]

  • 7. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
    [Abstract] [Full Text] [Related]

  • 8. 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 Jan 14; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
    Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.
    Am J Med Genet A; 2014 Aug 14; 164A(8):1976-80. PubMed ID: 24798461
    [Abstract] [Full Text] [Related]

  • 10. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
    Trimouille A, Lasseaux E, Barat P, Deiller C, Drunat S, Rooryck C, Arveiler B, Lacombe D.
    Clin Genet; 2018 Feb 14; 93(2):374-377. PubMed ID: 28617965
    [Abstract] [Full Text] [Related]

  • 11. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
    Gripp KW, Baker L, Telegrafi A, Monaghan KG.
    Am J Med Genet A; 2016 Jul 14; 170(7):1754-62. PubMed ID: 27112773
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.
    Epilepsia; 2014 Apr 14; 55(4):e25-9. PubMed ID: 24579881
    [Abstract] [Full Text] [Related]

  • 13. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov 14; 170(11):2927-2933. PubMed ID: 27333055
    [Abstract] [Full Text] [Related]

  • 14. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
    Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J.
    Brain; 2020 Jan 01; 143(1):112-130. PubMed ID: 31794024
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 170(7):1772-9. PubMed ID: 27108886
    [Abstract] [Full Text] [Related]

  • 16. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
    Pons L, Sabatier I, Alix E, Faoucher M, Labalme A, Sanlaville D, Lesca G.
    Eur J Med Genet; 2020 Oct 01; 63(10):103994. PubMed ID: 32707268
    [Abstract] [Full Text] [Related]

  • 17. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 01; 23(5):633-8. PubMed ID: 24916641
    [Abstract] [Full Text] [Related]

  • 18. GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
    Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA.
    J Clin Invest; 2021 May 03; 131(9):. PubMed ID: 33755596
    [Abstract] [Full Text] [Related]

  • 19. Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.
    Sun S, Chen L, Wang Y, Wang J, Li N, Wang X.
    Mol Genet Genomic Med; 2020 Dec 03; 8(12):e1518. PubMed ID: 33002343
    [Abstract] [Full Text] [Related]

  • 20. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.
    Am J Med Genet A; 2016 Aug 03; 170(8):2103-10. PubMed ID: 27256868
    [Abstract] [Full Text] [Related]

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