Hovnanian A - Search Results

1

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.

Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: hovnanian a. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663

2

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.

Lefevre P, Rochat A, Bodemer C, Vabres P, Barrandon Y, de Prost Y, Garner C, Hovnanian A. Lefevre P, et al. Among authors: hovnanian a. Eur J Hum Genet. 2000 Apr;8(4):273-9. doi: 10.1038/sj.ejhg.5200417. Eur J Hum Genet. 2000. PMID: 10854110

3

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Chavanas S, et al. Among authors: hovnanian a. Nat Genet. 2000 Jun;25(2):141-2. doi: 10.1038/75977. Nat Genet. 2000. PMID: 10835624

4

Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.

Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Müh JP, Revuz J, Barrandon Y, Lathrop M, de Prost Y, Hohl D, Hovnanian A. Petit E, et al. Among authors: hovnanian a. Eur J Hum Genet. 1997 Jul-Aug;5(4):218-28. Eur J Hum Genet. 1997. PMID: 9359043

5

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Among authors: hovnanian a. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178

6

[Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].

Hovnanian A, de Prost Y. Hovnanian A, et al. Arch Pediatr. 1994 Nov;1(11):1028-33. Arch Pediatr. 1994. PMID: 7530560 Review. French.

7

[Prenatal diagnosis of cutaneous genetic diseases by the study of fetal DNA].

Hovnanian A, De Prost Y. Hovnanian A, et al. Ann Dermatol Venereol. 1995;122(4):173-85. Ann Dermatol Venereol. 1995. PMID: 8526412 Review. French.

8

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. Maestrini E, et al. Among authors: hovnanian a. Hum Mol Genet. 1999 Jul;8(7):1237-43. doi: 10.1093/hmg/8.7.1237. Hum Mol Genet. 1999. PMID: 10369869

9

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A. Bitoun E, et al. Among authors: hovnanian a. J Invest Dermatol. 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. J Invest Dermatol. 2002. PMID: 11841556 Free article.

10

Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.

Fairclough RJ, Lonie L, Van Baelen K, Haftek M, Munro CS, Burge SM, Hovnanian A. Fairclough RJ, et al. Among authors: hovnanian a. J Invest Dermatol. 2004 Jul;123(1):67-71. doi: 10.1111/j.0022-202X.2004.22713.x. J Invest Dermatol. 2004. PMID: 15191544 Free article.

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