These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

117 related items for PubMed ID: 20074678

  • 1. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
    Jain S, Yang P, Farrell SA.
    Eur J Med Genet; 2010; 53(2):108-10. PubMed ID: 20074678
    [Abstract] [Full Text] [Related]

  • 2. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.
    Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.
    Eur J Med Genet; 2009; 52(2-3):140-4. PubMed ID: 19328248
    [Abstract] [Full Text] [Related]

  • 3. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
    Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P.
    Am J Med Genet A; 2013 Jan; 161A(1):162-5. PubMed ID: 23239647
    [Abstract] [Full Text] [Related]

  • 4. Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
    Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT, 16p11.2 Study Group Clinicians.
    J Dev Behav Pediatr; 2010 Oct; 31(8):649-57. PubMed ID: 20613623
    [Abstract] [Full Text] [Related]

  • 5. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
    Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.
    Am J Med Genet A; 2006 Jun 15; 140(12):1267-73. PubMed ID: 16691576
    [Abstract] [Full Text] [Related]

  • 6. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.
    Cusmano-Ozog K, Manning MA, Hoyme HE.
    Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):393-8. PubMed ID: 17926345
    [Abstract] [Full Text] [Related]

  • 7. Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
    Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.
    Am J Med Genet A; 2012 Sep 15; 158A(9):2091-9. PubMed ID: 22821852
    [Abstract] [Full Text] [Related]

  • 8. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.
    Chen CP, Lin SP, Tsai FJ, Chern SR, Lee CC, Wang W.
    Eur J Med Genet; 2008 Sep 15; 51(4):368-72. PubMed ID: 18458017
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
    Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.
    Eur J Hum Genet; 2008 Jan 15; 16(1):18-27. PubMed ID: 17940555
    [Abstract] [Full Text] [Related]

  • 11. Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.
    Lalli C, Galasso C, Lo Castro A, Nardone AM, Di Paolo A, Curatolo P.
    Brain Dev; 2007 Jun 15; 29(5):312-6. PubMed ID: 17125947
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
    Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.
    J Med Genet; 2010 Mar 15; 47(3):195-203. PubMed ID: 19755429
    [Abstract] [Full Text] [Related]

  • 14. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.
    Hum Mutat; 2005 Aug 15; 26(2):78-83. PubMed ID: 15957176
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 7q11.23 Microduplication: a recognizable phenotype.
    Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A.
    Clin Genet; 2013 Feb 15; 83(2):155-61. PubMed ID: 22369319
    [Abstract] [Full Text] [Related]

  • 17. A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.
    Mohrmann I, Gillessen-Kaesbach G, Siebert R, Caliebe A, Hellenbroich Y.
    Eur J Med Genet; 2011 Feb 15; 54(4):e461-4. PubMed ID: 21600320
    [Abstract] [Full Text] [Related]

  • 18. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
    Rommel N, Vantrappen G, Swillen A, Devriendt K, Feenstra L, Fryns JP.
    Genet Couns; 1999 Feb 15; 10(1):71-8. PubMed ID: 10191432
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.