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Journal Abstract Search

354 related items for PubMed ID: 31578471

  • 41. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B.
    Am J Hum Genet; 2021 May 06; 108(5):929-941. PubMed ID: 33811806
    [Abstract] [Full Text] [Related]

  • 42. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
    Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D.
    Genome Med; 2021 May 21; 13(1):90. PubMed ID: 34020708
    [Abstract] [Full Text] [Related]

  • 43. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
    Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S, TUDP Study Group, Nigro V, Brunetti-Pierri N.
    Am J Med Genet A; 2024 Nov 21; 194(11):e63713. PubMed ID: 38924631
    [Abstract] [Full Text] [Related]

  • 44. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
    Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA.
    Hum Mutat; 2022 Apr 21; 43(4):461-470. PubMed ID: 35094443
    [Abstract] [Full Text] [Related]

  • 45. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
    Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Care4Rare CanadaCare4Rare Canada, Ottawa, Ontario, Canada., Chung WK, Zweier C.
    Genet Med; 2023 Jul 21; 25(7):100839. PubMed ID: 37057675
    [Abstract] [Full Text] [Related]

  • 46. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
    Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A.
    Am J Med Genet A; 2021 Jun 21; 185(6):1712-1720. PubMed ID: 33675273
    [Abstract] [Full Text] [Related]

  • 47. 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 21; 141(2):257-272. PubMed ID: 34907471
    [Abstract] [Full Text] [Related]

  • 48. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
    Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P.
    Am J Med Genet A; 2021 May 21; 185(5):1366-1378. PubMed ID: 33522091
    [Abstract] [Full Text] [Related]

  • 49. Schaaf-Yang syndrome overview: Report of 78 individuals.
    McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP.
    Am J Med Genet A; 2018 Dec 21; 176(12):2564-2574. PubMed ID: 30302899
    [Abstract] [Full Text] [Related]

  • 50. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
    Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.
    Hum Genet; 2017 Apr 21; 136(4):377-386. PubMed ID: 28251352
    [Abstract] [Full Text] [Related]

  • 51. Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
    Johnson TB, Mechels K, Anderson RH, Cain JT, Sturdevant DA, Braddock S, Pinz H, Wilson MA, Landsverk M, Roux KJ, Weimer JM.
    Sci Rep; 2018 Nov 01; 8(1):16161. PubMed ID: 30385778
    [Abstract] [Full Text] [Related]

  • 52. HECW2-related disorder in four Japanese patients.
    Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T.
    Am J Med Genet A; 2021 Oct 01; 185(10):2895-2902. PubMed ID: 34047014
    [Abstract] [Full Text] [Related]

  • 53. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
    Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, DDD StudyWelcome Trust Sanger Institute, Cambridge, UK., Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM, Pierson TM, Balasubramanian M.
    Am J Med Genet A; 2021 Nov 01; 185(11):3446-3458. PubMed ID: 34436830
    [Abstract] [Full Text] [Related]

  • 54. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
    Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK.
    Clin Genet; 2021 Oct 01; 100(4):412-429. PubMed ID: 34216016
    [Abstract] [Full Text] [Related]

  • 55. Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
    Davies FCJ, Hope JE, McLachlan F, Marshall GF, Kaminioti-Dumont L, Qarkaxhija V, Nunez F, Dando O, Smith C, Wood E, MacDonald J, Hardt O, Abbott CM.
    Hum Mol Genet; 2020 Jun 27; 29(10):1592-1606. PubMed ID: 32160274
    [Abstract] [Full Text] [Related]

  • 56. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
    Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L.
    Eur J Hum Genet; 2024 Sep 27; 32(9):1144-1149. PubMed ID: 38355961
    [Abstract] [Full Text] [Related]

  • 57. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
    Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ.
    Am J Med Genet A; 2021 Oct 27; 185(10):2863-2872. PubMed ID: 34050707
    [Abstract] [Full Text] [Related]

  • 58. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K.
    Am J Hum Genet; 2020 Nov 05; 107(5):963-976. PubMed ID: 33157009
    [Abstract] [Full Text] [Related]

  • 59. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C.
    Genet Med; 2023 Aug 05; 25(8):100885. PubMed ID: 37165955
    [Abstract] [Full Text] [Related]

  • 60. 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 01; 142(9):2617-2630. PubMed ID: 31327001
    [Abstract] [Full Text] [Related]

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