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Journal Abstract Search

269 related items for PubMed ID: 28577347

  • 21. Ocular findings in the chromosome 22q11.2 deletion syndrome.
    Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH.
    J AAPOS; 2007 Apr; 11(2):179-82. PubMed ID: 17140829
    [Abstract] [Full Text] [Related]

  • 22. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
    Erickson RP, Díaz de Ståhl T, Bruder CE, Dumanski JP.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3302-8. PubMed ID: 18000907
    [Abstract] [Full Text] [Related]

  • 23. Heterotopia in Individuals with 22q11.2 Deletion Syndrome.
    Neuhaus E, Hattingen E, Breuer S, Steidl E, Polomac N, Rosenow F, Rüber T, Herrmann E, Ecker C, Kushan L, Lin A, Vajdi A, Bearden CE, Jurcoane A.
    AJNR Am J Neuroradiol; 2021 Nov 15; 42(11):2070-2076. PubMed ID: 34620586
    [Abstract] [Full Text] [Related]

  • 24. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
    Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT.
    Mol Autism; 2016 Nov 15; 7():27. PubMed ID: 27158440
    [Abstract] [Full Text] [Related]

  • 25. Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).
    Wang PP, Solot C, Moss EM, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH.
    J Dev Behav Pediatr; 1998 Oct 15; 19(5):342-5. PubMed ID: 9809264
    [No Abstract] [Full Text] [Related]

  • 26. Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion.
    Gudbrandsen M, Bletsch A, Mann C, Daly E, Murphy CM, Stoencheva V, Blackmore CE, Rogdaki M, Kushan L, Bearden CE, Murphy DGM, Craig MC, Ecker C.
    Mol Autism; 2020 Jun 08; 11(1):46. PubMed ID: 32513259
    [Abstract] [Full Text] [Related]

  • 27. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA.
    Am J Med Genet A; 2004 Jan 30; 124A(3):313-7. PubMed ID: 14708107
    [Abstract] [Full Text] [Related]

  • 28. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM.
    J Clin Immunol; 2017 Jul 30; 37(5):476-485. PubMed ID: 28540525
    [Abstract] [Full Text] [Related]

  • 29. 22q11.2 Microduplication with thyroid hemiagenesis.
    Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH.
    Horm Res Paediatr; 2013 Jul 30; 79(4):243-9. PubMed ID: 23364243
    [Abstract] [Full Text] [Related]

  • 30. Molecular genetics of 22q11.2 deletion syndrome.
    Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ.
    Am J Med Genet A; 2018 Oct 30; 176(10):2070-2081. PubMed ID: 30380194
    [Abstract] [Full Text] [Related]

  • 31. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.
    Sullivan KE.
    Immunol Allergy Clin North Am; 2008 May 30; 28(2):353-66. PubMed ID: 18424337
    [Abstract] [Full Text] [Related]

  • 32. Developmental trajectories in 22q11.2 deletion.
    Swillen A, McDonald-McGinn D.
    Am J Med Genet C Semin Med Genet; 2015 Jun 30; 169(2):172-81. PubMed ID: 25989227
    [Abstract] [Full Text] [Related]

  • 33. Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis.
    Prasad S, Katina S, Hennessy RJ, Murphy KC, Bowman AW, Waddington JL.
    Am J Med Genet A; 2015 Mar 30; 167A(3):529-36. PubMed ID: 25691406
    [Abstract] [Full Text] [Related]

  • 34. Lower prepulse inhibition in children with the 22q11 deletion syndrome.
    Sobin C, Kiley-Brabeck K, Karayiorgou M.
    Am J Psychiatry; 2005 Jun 30; 162(6):1090-9. PubMed ID: 15930057
    [Abstract] [Full Text] [Related]

  • 35. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
    Honjo RS, Castro MAA, Ferraciolli SF, Soares Junior LAV, Pastorino AC, Bertola DR, Miyake N, Matsumoto N, Kim CA.
    Am J Med Genet A; 2021 May 30; 185(5):1561-1568. PubMed ID: 33645901
    [Abstract] [Full Text] [Related]

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  • 37. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
    Devriendt K, Van Hoestenberghe R, Van Hole C, Devlieger H, Gewillig M, Moerman P, Van den Berghe H, Fryns JP.
    Clin Genet; 1997 Apr 30; 51(4):246-9. PubMed ID: 9184246
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