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Journal Abstract Search

235 related items for PubMed ID: 18843291

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  • 26. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.
    Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890
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  • 27. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
    Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC.
    Arch Dermatol Res; 2009 Sep; 301(8):621-4. PubMed ID: 19529952
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  • 29. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
    Shamseldin HE, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida SA, Alkuraya FS.
    Hum Genet; 2023 Apr; 142(4):477-482. PubMed ID: 36715754
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  • 31. Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
    Nagtzaam IF, van Geel M, Driessen A, Steijlen PM, van Steensel MA.
    Br J Dermatol; 2010 Jul; 163(1):205-7. PubMed ID: 20645982
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  • 32. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
    Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G.
    Ital J Pediatr; 2022 Aug 13; 48(1):145. PubMed ID: 35964051
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  • 36. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
    Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A.
    J Am Acad Dermatol; 2009 Nov 13; 61(5):813-8. PubMed ID: 19766349
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  • 37. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
    Rasheed M, Shahzad S, Zaeem A, Afzal I, Gul A, Khalid S.
    Arch Dermatol Res; 2017 Dec 13; 309(10):773-785. PubMed ID: 28913623
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  • 39. Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
    Ito T, Shimomura Y, Hayashi R, Tokura Y.
    J Dermatol; 2015 Jul 13; 42(7):752-3. PubMed ID: 25899282
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