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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: singh s. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau TA, Abdelfatah N, Squires J, King B, Houston J, Dyer MJ, Roslin NM, Vincent D, Marquis P, O'Rielly DD, Hodgkinson K, Burt T, Baker A, Stanton SG, Young TL. Singh S, et al. Eur J Hum Genet. 2023 Jul;31(7):815-823. doi: 10.1038/s41431-023-01358-0. Epub 2023 Apr 19. Eur J Hum Genet. 2023. PMID: 37072551 Free PMC article.
Zosteriform lymphangitis carcinomatosis: A dermatologist's enigma.
Singh BS, Nayak MK, Biswal R, Singh S, Biswal A. Singh BS, et al. Among authors: singh s. Indian J Dermatol Venereol Leprol. 2024 Apr 16:1-3. doi: 10.25259/IJDVL_417_2023. Online ahead of print. Indian J Dermatol Venereol Leprol. 2024. PMID: 38841974 No abstract available.
Sirolimus in dermatology: Jack of many trades.
Singh S, Sharma A, Malhi K, De D, Handa S, Mahajan R, Gorsi U. Singh S, et al. Indian J Dermatol Venereol Leprol. 2024 Apr 29:1-4. doi: 10.25259/IJDVL_869_2023. Online ahead of print. Indian J Dermatol Venereol Leprol. 2024. PMID: 38841953 No abstract available.
Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutation.
Raman T, Imran M, Agarwal M, Singh S, Bhoyar RC, Gupta A, Scaria V. Raman T, et al. Among authors: singh s. Indian J Dermatol Venereol Leprol. 2024 May 4:1-3. doi: 10.25259/IJDVL_980_2023. Online ahead of print. Indian J Dermatol Venereol Leprol. 2024. PMID: 38841948 No abstract available.
Primary Cutaneous B-Cell Lymphoma in an Infant: A Rare Entity.
Sarkar R, Meena AK, Mendiratta V, Sonker S, Singh S. Sarkar R, et al. Among authors: singh s. Indian J Dermatol. 2024 Mar-Apr;69(2):196-197. doi: 10.4103/ijd.ijd_1169_23. Epub 2024 Apr 29. Indian J Dermatol. 2024. PMID: 38841242 Free PMC article. No abstract available.
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