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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

121 related items for PubMed ID: 23234511

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  • 3. Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
    Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK, Kelsell DP, Christiano AM.
    J Invest Dermatol; 2008 Apr; 128(4):867-70. PubMed ID: 17805348
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  • 8. A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.
    Khalil S, Hayashi R, Daou L, Staiteieh SA, Abbas O, Bergqvist C, Nemer G, Shimomura Y, Kurban M.
    Clin Exp Dermatol; 2017 Apr; 42(3):313-315. PubMed ID: 28247548
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  • 9. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
    Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C.
    J Invest Dermatol; 2017 May; 137(5):1176-1179. PubMed ID: 28087452
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  • 11. Congenital hyponychia without RSPO4 mutation.
    Nakamura M, Miyachi Y.
    Acta Derm Venereol; 2008 May; 88(5):511-2. PubMed ID: 18779895
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  • 12. The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
    Seitz CS, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, Bergmann C.
    Br J Dermatol; 2007 Oct; 157(4):801-2. PubMed ID: 17596144
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  • 14. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
    Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Oct; 21():1261-71. PubMed ID: 26628857
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  • 15. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
    Khan SA, Rukan A, Ullah A, Bibi N, Humayun M, Ullah W, Raza R, Muhammad N, Ahmad W, Khan S, E-Kalsoom U.
    Eur J Dermatol; 2020 Aug 01; 30(4):408-416. PubMed ID: 32819890
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  • 16. Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.
    Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA.
    Br J Dermatol; 2017 Aug 01; 177(2):546-548. PubMed ID: 27681482
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  • 19. [An infant without nails].
    Theuns-Valks SD, Vergunst CE.
    Ned Tijdschr Geneeskd; 2011 Aug 01; 155(52):A2747. PubMed ID: 22217238
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