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Journal Abstract Search

368 related items for PubMed ID: 22534424

  • 41. 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; 58(1):36-38. PubMed ID: 28378413
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  • 44. KBG syndrome: 16q24.3 microdeletion in an Indian patient.
    Srivastava P, Gambhir PS, Phadke SR.
    Clin Dysmorphol; 2017 Jul; 26(3):161-166. PubMed ID: 28099180
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  • 46. Distinct phenotype of PHF6 deletions in females.
    Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
    Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
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  • 49. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
    El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C.
    Eur J Med Genet; 2011 Feb; 54(3):369-73. PubMed ID: 21397059
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  • 50. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
    Schwemmle C, Rost I, Spranger S, Jungheim M, Ptok M.
    Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1190-3. PubMed ID: 24814572
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  • 53. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
    Mackenroth L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.
    Am J Med Genet A; 2016 Sep; 170(9):2394-9. PubMed ID: 27255444
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  • 54. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
    Lipska BS, Brzeskwiniewicz M, Wierzba J, Morzuchi L, Piotrowski A, Limon J.
    Genet Couns; 2011 Sep; 22(4):353-63. PubMed ID: 22303795
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  • 55. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
    Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.
    Eur J Med Genet; 2014 Jul; 57(7):334-8. PubMed ID: 24780630
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  • 57. A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.
    Vargas H, Beldia G, Korosh W, Sudhalter V, Iqbal A, Sanchez-Lacay JA, Velinov M.
    Eur J Med Genet; 2012 Oct; 55(10):573-6. PubMed ID: 22669037
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  • 59. Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
    Osio D, Rankin J, Koillinen H, Reynolds A, Van Esch H.
    Am J Med Genet A; 2018 Jan; 176(1):209-213. PubMed ID: 29130599
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  • 60. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
    Soysal Y, Vermeesch J, Davani NA, Şensoy N, Hekimler K, İmirzalıoğlu N.
    Genet Mol Res; 2011 Sep 21; 10(3):2148-54. PubMed ID: 21968682
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