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Journal Abstract Search

114 related items for PubMed ID: 27930866

  • 61. Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.
    Leonard NJ, Tomkins DJ.
    Am J Med Genet; 2002 Sep 15; 112(1):86-90. PubMed ID: 12239727
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  • 64. Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.
    Chen CP, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2017 Dec 15; 56(6):840-842. PubMed ID: 29241931
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  • 65. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis.
    Hartmann A, Hofmann UB, Hoehn H, Broecker EB, Hamm H.
    Pediatr Dermatol; 2004 Dec 15; 21(6):636-41. PubMed ID: 15575846
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  • 67. Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
    Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P.
    Pediatr Neurol; 2009 May 15; 40(5):383-6. PubMed ID: 19380077
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  • 68. Severity in phenotypic expression of homozygous sickle cell disease (Hb.SS)--does hypermelanotic or hypomelanotic skin status of affected patients play a role?
    Bakare MO.
    Med Hypotheses; 2011 May 15; 76(5):673-5. PubMed ID: 21288648
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  • 69. Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome.
    Lam CW, Chan CY, Wong KC, Chang ST.
    J Hum Genet; 2021 Aug 15; 66(8):825-829. PubMed ID: 33526817
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  • 70. Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.
    Chen CP, Wang LK, Chern SR, Chen YN, Chen SW, Wu PS, Town DD, Pan CW, Yang CW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Oct 15; 55(5):712-717. PubMed ID: 27751421
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  • 71. Tumors and hypomelanosis of Ito.
    Ruggieri M, Magro G, Ruggieri M, Polizzi A.
    Arch Pathol Lab Med; 2001 May 15; 125(5):599-601. PubMed ID: 11339219
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  • 74. Congenital disorders of hypopigmentation.
    Orlow SJ.
    Semin Dermatol; 1995 Mar 15; 14(1):27-32. PubMed ID: 7742237
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  • 75. Chasing Zebras: A Child with Skin Stripes and Whorls.
    Dawson MZ, Ghosh D.
    Pediatr Neurol; 2018 Feb 15; 79():74-75. PubMed ID: 29174004
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  • 77. Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
    Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A.
    Genet Med; 2021 Nov 15; 23(11):2223-2224. PubMed ID: 34234302
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  • 80. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
    Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.
    Nat Genet; 2019 Oct 15; 51(10):1438-1441. PubMed ID: 31570889
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