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Page 1
Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.
Ratnamala U, Jhala D, Jain NK, Saiyed NM, Raveendrababu M, Rao MV, Mehta TY, Al-Ali FM, Raval K, Nair S, Chandramohan NK, Kuracha MR, Nath SK, Radhakrishna U. Ratnamala U, et al. Among authors: radhakrishna u. Exp Dermatol. 2016 Apr;25(4):314-6. doi: 10.1111/exd.12911. Epub 2016 Feb 11. Exp Dermatol. 2016. PMID: 26663538 No abstract available.
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U. Naveed M, et al. Among authors: radhakrishna u. Am J Med Genet A. 2006 Jul 1;140(13):1440-6. doi: 10.1002/ajmg.a.31239. Am J Med Genet A. 2006. PMID: 16688753
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.
Radhakrishna U, Ratnamala U, Gaines M, Beiraghi S, Hutchings D, Golla J, Husain SA, Gambhir PS, Sheth JJ, Sheth FJ, Chetan GK, Naveed M, Solanki JV, Patel UC, Master DC, Memon R, Antonarakis GS, Antonarakis SE, Nath SK. Radhakrishna U, et al. Am J Hum Genet. 2006 Sep;79(3):580-5. doi: 10.1086/507487. Epub 2006 Jul 21. Am J Hum Genet. 2006. PMID: 16909398 Free PMC article.
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. Naveed M, et al. Among authors: radhakrishna u. Am J Hum Genet. 2007 Jan;80(1):105-11. doi: 10.1086/510724. Epub 2006 Nov 29. Am J Hum Genet. 2007. PMID: 17160898 Free PMC article.
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Gajecka M, et al. Among authors: radhakrishna u. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1531-9. doi: 10.1167/iovs.08-2173. Epub 2008 Nov 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19011015 Free PMC article.
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Ratnamala U, et al. Among authors: radhakrishna u. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. doi: 10.1167/iovs.10-6815. Invest Ophthalmol Vis Sci. 2011. PMID: 21357393 Free PMC article.
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