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Journal Abstract Search

1166 related items for PubMed ID: 30055086

  • 1. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [Abstract] [Full Text] [Related]

  • 2. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.
    Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
    J Hum Genet; 2016 Sep; 61(9):835-8. PubMed ID: 27225850
    [Abstract] [Full Text] [Related]

  • 3. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
    Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E, DDD study, Devriendt K, Breckpot J.
    Eur J Hum Genet; 2019 Feb; 27(2):278-290. PubMed ID: 30291340
    [Abstract] [Full Text] [Related]

  • 4. 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; 185(4):1216-1221. PubMed ID: 33427397
    [Abstract] [Full Text] [Related]

  • 5. MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
    Louw JJ, Corveleyn A, Jia Y, Hens G, Gewillig M, Devriendt K.
    Am J Med Genet A; 2015 May; 167A(5):1142-6. PubMed ID: 25712757
    [Abstract] [Full Text] [Related]

  • 6. MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.
    Giliberti A, Currò A, Papa FT, Frullanti E, Ariani F, Coriolani G, Grosso S, Renieri A, Mari F.
    Eur J Med Genet; 2020 Jan; 63(1):103627. PubMed ID: 30735726
    [Abstract] [Full Text] [Related]

  • 7. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
    Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G.
    Am J Med Genet A; 2014 Jul; 164A(7):1622-6. PubMed ID: 24678003
    [Abstract] [Full Text] [Related]

  • 8. MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
    Su JX, Velsher LS, Juusola J, Nezarati MM.
    Am J Med Genet A; 2021 Jan; 185(1):300-303. PubMed ID: 33091211
    [Abstract] [Full Text] [Related]

  • 9. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [Abstract] [Full Text] [Related]

  • 10. 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; 170(12):3313-3318. PubMed ID: 27570168
    [Abstract] [Full Text] [Related]

  • 11. 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, DDD study, 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 28; 11(1):12. PubMed ID: 30819258
    [Abstract] [Full Text] [Related]

  • 12. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
    Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.
    Genet Med; 2020 Feb 28; 22(2):389-397. PubMed ID: 31388190
    [Abstract] [Full Text] [Related]

  • 13. A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
    Santoro C, Riccio S, Palladino F, Aliberti F, Carotenuto M, Zanobio M, Peduto C, Nigro V, Perrotta S, Piluso G.
    Eur J Med Genet; 2021 May 28; 64(5):104190. PubMed ID: 33722742
    [Abstract] [Full Text] [Related]

  • 14. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
    Am J Hum Genet; 2018 Jul 05; 103(1):154-162. PubMed ID: 29961569
    [Abstract] [Full Text] [Related]

  • 15. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
    Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F.
    BMC Med Genet; 2014 May 01; 15():49. PubMed ID: 24886118
    [Abstract] [Full Text] [Related]

  • 16. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Shimojima K, Okamoto N, Yamamoto T.
    Congenit Anom (Kyoto); 2018 Jan 01; 58(1):36-38. PubMed ID: 28378413
    [Abstract] [Full Text] [Related]

  • 17. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM.
    Am J Hum Genet; 2019 Jan 03; 104(1):164-178. PubMed ID: 30580808
    [Abstract] [Full Text] [Related]

  • 18. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
    Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.
    Eur J Hum Genet; 2015 Nov 03; 23(11):1499-504. PubMed ID: 25712080
    [Abstract] [Full Text] [Related]

  • 19. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 03; 60(9):451-464. PubMed ID: 28645799
    [Abstract] [Full Text] [Related]

  • 20. De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
    Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A.
    Eur J Hum Genet; 2019 Nov 03; 27(11):1677-1682. PubMed ID: 31201375
    [Abstract] [Full Text] [Related]

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