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    Results: 1 to 20 of 43

    1.

    Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.

    Jilumudi UB.

    J Forensic Leg Med. 2012 Aug;19(6):352-4. doi: 10.1016/j.jflm.2012.02.019. Epub 2012 Mar 7. Review.

    PMID:
    22847055
    [PubMed - indexed for MEDLINE]
    2.

    Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

    Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM, Toribio J, Carracedo Á, Vega A.

    Int J Dermatol. 2012 Apr;51(4):427-30. doi: 10.1111/j.1365-4632.2011.05171.x.

    PMID:
    22435431
    [PubMed - indexed for MEDLINE]
    3.

    Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

    Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J.

    Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638.

    PMID:
    22257947
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography.

    Basgul AY, Kavak ZN, Guducu N, Durukan B, Isci H.

    Clin Exp Obstet Gynecol. 2011;38(3):283-5.

    PMID:
    21995167
    [PubMed - indexed for MEDLINE]
    5.

    Total hip replacement in an adolescent patient with harlequin ichthyosis; a case report.

    Beazley JC, Ho K, Ilchyshyn A, Foguet P.

    Hip Int. 2011 Jul-Aug;21(4):487-9.

    PMID:
    21936072
    [PubMed - indexed for MEDLINE]
    6.

    Updated molecular genetics and pathogenesis of ichthiyoses.

    Akiyama M.

    Nagoya J Med Sci. 2011 Aug;73(3-4):79-90. Review.

    PMID:
    21928690
    [PubMed - indexed for MEDLINE]
    7.

    Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.

    Li Q, Frank M, Akiyama M, Shimizu H, Ho SY, Thisse C, Thisse B, Sprecher E, Uitto J.

    Dis Model Mech. 2011 Nov;4(6):777-85. doi: 10.1242/dmm.007146. Epub 2011 Aug 4.

    PMID:
    21816950
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Harlequin ichthyosis in two siblings.

    Habib A, Pasha W, Raza N, Hameed A.

    J Coll Physicians Surg Pak. 2011 Aug;21(8):503-5. doi: 08.2011/JCPSP.503505.

    PMID:
    21798141
    [PubMed - indexed for MEDLINE]
    9.

    Management of harlequin ichthyosis in low-income countries.

    Rossi G, Mesia D.

    Ann Trop Paediatr. 2011;31(3):247-9. doi: 10.1179/1465328111Y.0000000020.

    PMID:
    21781420
    [PubMed - indexed for MEDLINE]
    10.

    Harlequin ichthyosis.

    Akhdari N, Ouladsiad M, Aboussad A, Amal S.

    Skinmed. 2010 Nov-Dec;8(6):371-2.

    PMID:
    21413658
    [PubMed - indexed for MEDLINE]
    11.

    Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

    Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E.

    Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21.

    PMID:
    21339420
    [PubMed - indexed for MEDLINE]
    12.

    New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.

    Umemoto H, Akiyama M, Yanagi T, Sakai K, Aoyama Y, Oizumi A, Suga Y, Kitagawa Y, Shimizu H.

    J Dermatol Sci. 2011 Feb;61(2):136-9. doi: 10.1016/j.jdermsci.2010.11.010. Epub 2010 Dec 1. No abstract available.

    PMID:
    21168995
    [PubMed - indexed for MEDLINE]
    13.

    Harlequin ichthyosis in an African child: case report.

    Migowa AN, Murungi CW, Gatinu BW, Mbithe J, Kimani E, Okiro P, Rana FS, Ochieng R, Nduati R.

    East Afr Med J. 2010 Sep;87(9):389-92.

    PMID:
    23457818
    [PubMed - indexed for MEDLINE]
    14.

    ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

    Akiyama M.

    Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Review.

    PMID:
    20672373
    [PubMed - indexed for MEDLINE]
    15.

    Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

    Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.

    J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. Review.

    PMID:
    20643494
    [PubMed - indexed for MEDLINE]
    16.

    Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.

    Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H.

    Am J Pathol. 2010 Jul;177(1):106-18. doi: 10.2353/ajpath.2010.091120. Epub 2010 May 20.

    PMID:
    20489143
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography.

    Kudla MJ, Timmerman D.

    J Ultrasound Med. 2010 Feb;29(2):317-9. No abstract available.

    PMID:
    20103806
    [PubMed - indexed for MEDLINE]
    18.

    Perinatal management of harlequin ichthyosis: a case report and literature review.

    Harvey HB, Shaw MG, Morrell DS.

    J Perinatol. 2010 Jan;30(1):66-72. doi: 10.1038/jp.2009.100. Review.

    PMID:
    20038941
    [PubMed - indexed for MEDLINE]
    19.

    NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.

    Wajid M, Kurban M, Shimomura Y, Christiano AM.

    Dermatology. 2010;220(1):8-14. doi: 10.1159/000265757. Epub 2009 Dec 10.

    PMID:
    20016120
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Repair of cicatricial ectropion in a harlequin baby.

    Khan R, Arora S, El-Hindy N, Chang BY.

    J AAPOS. 2009 Aug;13(4):415-6. doi: 10.1016/j.jaapos.2009.05.010.

    PMID:
    19683196
    [PubMed - indexed for MEDLINE]

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