BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 28369735)

  • 1. Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.
    Karim N; Murtaza G; Naeem M
    Br J Dermatol; 2017 Nov; 177(5):e191-e192. PubMed ID: 28369735
    [No Abstract]   [Full Text] [Related]  

  • 2. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.
    Takeichi T; Nomura T; Takama H; Kono M; Sugiura K; Watanabe D; Shimizu H; Simpson MA; McGrath JA; Akiyama M
    Br J Dermatol; 2017 Sep; 177(3):e62-e64. PubMed ID: 28112794
    [No Abstract]   [Full Text] [Related]  

  • 3. Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.
    Hotz A; Fagerberg C; Vahlquist A; Bygum A; Törmä H; Rauschendorf MA; Zhang H; Heinz L; Bourrat E; Hausser I; Vestergaard V; Dragomir A; Zimmer AD; Fischer J
    Br J Dermatol; 2018 Mar; 178(3):e207-e209. PubMed ID: 28906551
    [No Abstract]   [Full Text] [Related]  

  • 4. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
    Pohler E; Cunningham F; Sandilands A; Cole C; Digby S; McMillan JR; Aristodemou S; McGrath JA; Smith FJ; McLean WH; Munro CS; Zamiri M
    Br J Dermatol; 2015 Nov; 173(5):1291-4. PubMed ID: 25965869
    [No Abstract]   [Full Text] [Related]  

  • 5. Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.
    Seidl-Philipp M; Schossig AS; Moosbrugger-Martinz V; Zschocke J; Schmuth M; Gruber R
    J Dtsch Dermatol Ges; 2019 Jul; 17(7):742-745. PubMed ID: 31012992
    [No Abstract]   [Full Text] [Related]  

  • 6. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
    Youssefian L; Vahidnezhad H; Saeidian AH; Touati A; Sotoudeh S; Mahmoudi H; Mansouri P; Daneshpazhooh M; Aghazadeh N; Hesari KK; Basiri M; Londin E; Kumar G; Zeinali S; Fortina P; Uitto J
    Hum Mutat; 2019 Mar; 40(3):288-298. PubMed ID: 30578701
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.
    Karim N; Ullah A; Murtaza G; Naeem M
    Genet Test Mol Biomarkers; 2019 Jun; 23(6):428-432. PubMed ID: 31081706
    [No Abstract]   [Full Text] [Related]  

  • 8. Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
    Kirchmeier P; Zimmer A; Bouadjar B; Rösler B; Fischer J
    Acta Derm Venereol; 2017 Jan; 97(1):102-104. PubMed ID: 27494380
    [No Abstract]   [Full Text] [Related]  

  • 9. Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
    Akbar A; Bint-E-Farrakh M; Crosby AH; Gul A; Harlalka GV
    Congenit Anom (Kyoto); 2020 Sep; 60(5):149-150. PubMed ID: 31883158
    [No Abstract]   [Full Text] [Related]  

  • 10. Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.
    Zhao L; Wang C; Zhang Y; Li J; Liu H; Feng D
    J Dermatol; 2022 May; 49(5):550-555. PubMed ID: 35014717
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.
    Lolas IB; Sommerlund M; Okkels H; Ramsing M; Petersen MB
    J Eur Acad Dermatol Venereol; 2016 Nov; 30(11):e144-e145. PubMed ID: 26575587
    [No Abstract]   [Full Text] [Related]  

  • 12. A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
    Sayeb M; Riahi Z; Laroussi N; Bonnet C; Romdhane L; Mkaouar R; Zaouak A; Marrakchi J; Abdessalem G; Messaoud O; Bouchniba O; Ghilane N; Mokni M; Besbes G; Yacoub-Youssef H; Petit C; Abdelhak S
    Int J Dermatol; 2019 Dec; 58(12):1439-1443. PubMed ID: 31020658
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
    Youssefian L; Niaziorimi F; Saeidian AH; South AP; Khosravi-Bachehmir F; Khodavaisy S; Vahidnezhad H; Uitto J
    J Invest Dermatol; 2021 Jul; 141(7):1754-1764.e1. PubMed ID: 33422619
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
    Aggarwal S; Kar A; Bland P; Kelsell D; Dalal A
    Gene; 2015 Feb; 556(2):254-6. PubMed ID: 25479012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.
    Jacinto JGP; Häfliger IM; Veiga IMB; Letko A; Gentile A; Drögemüller C
    Mol Genet Genomics; 2021 Nov; 296(6):1313-1322. PubMed ID: 34599683
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.
    Esposito G; De Falco F; Brazzelli V; Montanari L; Larizza D; Salvatore F
    J Dermatol Sci; 2009 Aug; 55(2):128-30. PubMed ID: 19556108
    [No Abstract]   [Full Text] [Related]  

  • 17. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
    Shigehara Y; Okuda S; Nemer G; Chedraoui A; Hayashi R; Bitar F; Nakai H; Abbas O; Daou L; Abe R; Sleiman MB; Kibbi AG; Kurban M; Shimomura Y
    Hum Mol Genet; 2016 Oct; 25(20):4484-4493. PubMed ID: 28173123
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of
    Wang ZX; Liu YH; Dong Y; Li YL; Tang TY; Fan LL
    Biomed Res Int; 2021; 2021():4535349. PubMed ID: 34608437
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
    Simpson JK; Martinez-Queipo M; Onoufriadis A; Tso S; Glass E; Liu L; Higashino T; Scott W; Tierney C; Simpson MA; Desomchoke R; Youssefian L; SaeIdian AH; Vahidnezhad H; Bisquera A; Ravenscroft J; Moss C; O'Toole EA; Burrows N; Leech S; Jones EA; Lim D; Ilchyshyn A; Goldstraw N; Cork MJ; Darne S; Uitto J; Martinez AE; Mellerio JE; McGrath JA
    Br J Dermatol; 2020 Mar; 182(3):729-737. PubMed ID: 31168818
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease.
    Morita-Adachi R; Takeichi T; Okuno Y; Kataoka S; Hoshino S; Akiyama M
    Eur J Dermatol; 2017 Aug; 27(4):438-439. PubMed ID: 28747283
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.