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Journal Abstract Search

415 related items for PubMed ID: 22469822

  • 1. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
    [Abstract] [Full Text] [Related]

  • 2. A newborn diagnosed with van Maldergem syndrome.
    Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N.
    Clin Dysmorphol; 2018 Apr; 27(2):63-65. PubMed ID: 29505454
    [No Abstract] [Full Text] [Related]

  • 3. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
    Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.
    Am J Med Genet A; 2018 May; 176(5):1166-1174. PubMed ID: 29681106
    [Abstract] [Full Text] [Related]

  • 4. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
    Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.
    Eur J Hum Genet; 2012 Oct; 20(10):1024-31. PubMed ID: 22473091
    [Abstract] [Full Text] [Related]

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  • 6. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Oct; 23(4):465-71. PubMed ID: 23431745
    [Abstract] [Full Text] [Related]

  • 7. Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
    Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D.
    Gene; 2012 Jul 01; 502(1):40-5. PubMed ID: 22537675
    [Abstract] [Full Text] [Related]

  • 8. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
    Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.
    Gene; 2013 Mar 10; 516(2):301-6. PubMed ID: 23296059
    [Abstract] [Full Text] [Related]

  • 9. Terminal 2q37 deletion and autistic behaviour.
    Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.
    Genet Couns; 2005 Mar 10; 16(2):179-80. PubMed ID: 16080299
    [No Abstract] [Full Text] [Related]

  • 10. Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.
    Ben-Abdallah-Bouhjar I, Mougou-Zerelli S, Hannachi H, Ben-Khelifa H, Soyah N, Labalme A, Sanlaville D, Elghezal H, Saad A.
    Gene; 2013 Apr 25; 519(1):135-41. PubMed ID: 23403231
    [Abstract] [Full Text] [Related]

  • 11. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
    Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.
    Hum Genet; 2014 Sep 25; 133(9):1161-7. PubMed ID: 24913602
    [Abstract] [Full Text] [Related]

  • 12. Kabuki syndrome and trisomy 10p.
    Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E.
    Genet Couns; 2008 Sep 25; 19(3):291-300. PubMed ID: 18990985
    [Abstract] [Full Text] [Related]

  • 13. Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.
    Zampino G, Colosimo C, Balducci F, Mariotti P, Serra F, Scarano G, Mastroiacovo P.
    Clin Genet; 1994 Mar 25; 45(3):140-4. PubMed ID: 8026105
    [Abstract] [Full Text] [Related]

  • 14. Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn.
    Dundar M, Uzak A, Saatci C, Akalin H.
    Genet Couns; 2011 Mar 25; 22(3):287-92. PubMed ID: 22029170
    [Abstract] [Full Text] [Related]

  • 15. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
    Ruiz-Botero F, Pachajoa H.
    J Med Case Rep; 2016 Jul 27; 10():204. PubMed ID: 27459995
    [Abstract] [Full Text] [Related]

  • 16. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Jul 27; 57(11-12):654-8. PubMed ID: 25230004
    [Abstract] [Full Text] [Related]

  • 17. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
    Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R.
    Eur J Med Genet; 2013 Jan 27; 56(1):54-8. PubMed ID: 23085304
    [Abstract] [Full Text] [Related]

  • 18. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
    Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.
    Eur J Med Genet; 2012 Dec 27; 55(12):695-9. PubMed ID: 22986108
    [Abstract] [Full Text] [Related]

  • 19. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
    Wong SL, Chou HH, Chao CN, Leung JH, Chen YH, Hsu CD.
    BMC Res Notes; 2015 Jun 19; 8():250. PubMed ID: 26088875
    [Abstract] [Full Text] [Related]

  • 20. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
    Akbas E, Polat S, Karakas-Celik S, Altintas ZM, Yildirim M, Yilgor E.
    Genet Couns; 2011 Jun 19; 22(4):417-23. PubMed ID: 22303803
    [Abstract] [Full Text] [Related]

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