Pillay K - Search Results

1

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mercier S, et al. Among authors: pillay k. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268661 Free PMC article.

2

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM, Bateman ED. Khumalo NP, et al. Among authors: pillay k. Br J Dermatol. 2006 Nov;155(5):1057-61. doi: 10.1111/j.1365-2133.2006.07473.x. Br J Dermatol. 2006. PMID: 17034542

3

Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy.

Shaboodien G, Watkins DA, Pillay K, Beighton P, Heckmann JM, Mayosi BM. Shaboodien G, et al. Among authors: pillay k. Pract Neurol. 2015 Apr;15(2):152-4. doi: 10.1136/practneurol-2014-000992. Epub 2015 Jan 8. Pract Neurol. 2015. PMID: 25573340 No abstract available.

4

Acute 'relaxer'-associated scarring alopecia: a report of five cases.

Khumalo NP, Pillay K, Ngwanya RM. Khumalo NP, et al. Among authors: pillay k. Br J Dermatol. 2007 Jun;156(6):1394-7. doi: 10.1111/j.1365-2133.2007.07893.x. Epub 2007 Apr 25. Br J Dermatol. 2007. PMID: 17459038 No abstract available.

5

Whorled follicular keratosis, scarring alopecia in ichthyosis follicularis atrichia with photophobia syndrome.

Eisman S, Ngwanya RM, Pillay K, Khumalo NP. Eisman S, et al. Among authors: pillay k. J Eur Acad Dermatol Venereol. 2009 Jul;23(7):842-3. doi: 10.1111/j.1468-3083.2008.03033.x. Epub 2009 Apr 2. J Eur Acad Dermatol Venereol. 2009. PMID: 19368619 No abstract available.

6

Reliability of Histopathology for the Early Recognition of Fibrosis in Traction Alopecia: Correlation with Clinical Severity.

Ngwanya RM, Adeola HA, Beach RA, Gantsho N, Walker CL, Pillay K, Prokopetz R, Gumedze F, Khumalo NP. Ngwanya RM, et al. Among authors: pillay k. Dermatopathology (Basel). 2019 Jun 26;6(2):170-181. doi: 10.1159/000500509. eCollection 2019 Apr-Jun. Dermatopathology (Basel). 2019. PMID: 31700859 Free PMC article.

7

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Rokach O, et al. Among authors: pillay k. Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27. Hum Mol Genet. 2015. PMID: 26019235

8

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS. Roberts L, et al. Among authors: pillay k. Hum Mutat. 2020 Nov;41(11):1871-1876. doi: 10.1002/humu.24094. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32827185

9

Renal disease in Cockayne syndrome.

Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A. Stern-Delfils A, et al. Among authors: pillay k. Eur J Med Genet. 2020 Jan;63(1):103612. doi: 10.1016/j.ejmg.2019.01.002. Epub 2019 Jan 7. Eur J Med Genet. 2020. PMID: 30630117

10

Association of angiomyolipoma and oncocytoma of the kidney: a case report and review of the literature.

Pillay K, Lazarus J, Wainwright HC. Pillay K, et al. J Clin Pathol. 2003 Jul;56(7):544-7. doi: 10.1136/jcp.56.7.544. J Clin Pathol. 2003. PMID: 12835303 Free PMC article. Review.

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