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    Results: 14

    1.

    Rare disease registries and mutation/variation databases.

    Cotton RG.

    Hum Mutat. 2011 Oct;32(10):1073-4. doi: 10.1002/humu.21596. No abstract available.

    PMID:
    21910163
    [PubMed - indexed for MEDLINE]
    2.

    Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

    Mucaki EJ, Ainsworth P, Rogan PK.

    Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.

    PMID:
    21523855
    [PubMed - indexed for MEDLINE]
    3.

    Mutation update for the PORCN gene.

    Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC.

    Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Review.

    PMID:
    21472892
    [PubMed - indexed for MEDLINE]
    4.

    Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.

    Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J.

    Hum Mutat. 2011 Jul;32(7):710-4. doi: 10.1002/humu.21503. Epub 2011 Apr 26.

    PMID:
    21412954
    [PubMed - indexed for MEDLINE]
    5.

    Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.

    Wei X, Moncada-Pazos A, Cal S, Soria-Valles C, Gartner J, Rudloff U, Lin JC; NISC Comparative Sequencing Program, Rosenberg SA, López-Otín C, Samuels Y.

    Hum Mutat. 2011 Jun;32(6):E2148-75. doi: 10.1002/humu.21477. Epub 2011 Feb 24.

    PMID:
    21618342
    [PubMed - indexed for MEDLINE]
    6.

    Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

    Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, Deissler H, Ditsch N, Gress V, Kiechle M, Bartram CR, Schmutzler RK, Niederacher D, Arnold N, Meindl A.

    Hum Mutat. 2011 Jun;32(6):E2176-88. doi: 10.1002/humu.21478. Epub 2011 Feb 24.

    PMID:
    21618343
    [PubMed - indexed for MEDLINE]
    7.

    Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

    Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

    Hum Mutat. 2011 Jun;32(6):E2134-47. doi: 10.1002/humu.21476.

    PMID:
    21618341
    [PubMed - indexed for MEDLINE]
    8.

    New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

    Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z.

    Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1.

    PMID:
    21309044
    [PubMed - indexed for MEDLINE]
    9.

    Induction of phenotype modifying cytokines by FERMT1 mutations.

    Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, Kurz T, Bruckner-Tuderman L, Has C.

    Hum Mutat. 2011 Apr;32(4):397-406. doi: 10.1002/humu.21449. Epub 2011 Mar 1.

    PMID:
    21309038
    [PubMed - indexed for MEDLINE]
    10.

    Legius syndrome in fourteen families.

    Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E.

    Hum Mutat. 2011 Jan;32(1):E1985-98.

    PMID:
    21089071
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

    Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

    Hum Mutat. 2011 Jan;32(1):70-2.

    PMID:
    20979233
    [PubMed - indexed for MEDLINE]
    12.

    Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

    Gremer L, Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, Kratz CP, Zenker M, Wittinghofer A, Ahmadian MR.

    Hum Mutat. 2011 Jan;32(1):33-43. doi: 10.1002/humu.21377. Epub 2010 Dec 9.

    PMID:
    20949621
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

    Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT.

    Hum Mutat. 2010 Oct;31(10):1125-33.

    PMID:
    20672378
    [PubMed - indexed for MEDLINE]
    14.

    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

    Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H.

    Hum Mutat. 2010 Oct;31(10):E1687-98.

    PMID:
    20665883
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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