Babay S - Search Results

1

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Liu Y, et al. Among authors: babay s. Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368. Arthritis Rheum. 2012. PMID: 21953331 Free PMC article.

2

H syndrome: the first 79 patients.

Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, Luis SJ, Broshtilova V, Zlotogorski A. Molho-Pessach V, et al. Among authors: babay s. J Am Acad Dermatol. 2014 Jan;70(1):80-8. doi: 10.1016/j.jaad.2013.09.019. Epub 2013 Oct 27. J Am Acad Dermatol. 2014. PMID: 24172204

3

Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.

Molho-Pessach V, Mechoulam H, Siam R, Babay S, Ramot Y, Zlotogorski A. Molho-Pessach V, et al. Among authors: babay s. Ophthalmic Genet. 2015;36(4):365-8. doi: 10.3109/13816810.2014.886272. Epub 2014 Feb 18. Ophthalmic Genet. 2015. PMID: 24547910

4

Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.

Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A. Ramot Y, et al. Among authors: babay s. J Med Genet. 2014 Jun;51(6):388-94. doi: 10.1136/jmedgenet-2014-102346. Epub 2014 Mar 26. J Med Genet. 2014. PMID: 24671081

5

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.

Molho-Pessach V, Sheffer S, Siam R, Tams S, Siam I, Awwad R, Babay S, Golender J, Simanovsky N, Ramot Y, Zlotogorski A. Molho-Pessach V, et al. Among authors: babay s. Pediatr Dermatol. 2015 Sep-Oct;32(5):641-6. doi: 10.1111/pde.12541. Epub 2015 Mar 30. Pediatr Dermatol. 2015. PMID: 25824144

6

IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.

Renert-Yuval Y, Horev L, Babay S, Tams S, Ramot Y, Zlotogorski A, Molho-Pessach V. Renert-Yuval Y, et al. Among authors: babay s. Int J Dermatol. 2014 Jul;53(7):866-8. doi: 10.1111/ijd.12525. Epub 2014 Jun 5. Int J Dermatol. 2014. PMID: 24898045

7

Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency.

Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A. Horev L, et al. Among authors: babay s. J Am Acad Dermatol. 2015 Jun;72(6):1082-4. doi: 10.1016/j.jaad.2015.02.1118. J Am Acad Dermatol. 2015. PMID: 25981006 No abstract available.

8

Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex.

Horev L, Babay S, Ramot Y, Saad-Edin B, Moorad S, Ingber A, Maly A, Zlotogorski A. Horev L, et al. Among authors: babay s. Br J Dermatol. 2011 May;164(5):1113-6. doi: 10.1111/j.1365-2133.2011.10229.x. Br J Dermatol. 2011. PMID: 21275938 No abstract available.

9

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.

De Cruz R, Horev L, Green J, Babay S, Sladden M, Zlotogorski A, Sinclair R. De Cruz R, et al. Among authors: babay s. Br J Dermatol. 2012 Jun;166 Suppl 2:20-6. doi: 10.1111/j.1365-2133.2012.10861.x. Br J Dermatol. 2012. PMID: 22670615

10

H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis.

Tekin B, Atay Z, Ergun T, Can M, Tuney D, Babay S, Turan S, Bereket A, Zlotogorski A, Molho-Pessach V. Tekin B, et al. Among authors: babay s. Acta Derm Venereol. 2015 Nov;95(8):1021-3. doi: 10.2340/00015555-2145. Acta Derm Venereol. 2015. PMID: 26015165 Free article. No abstract available.

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