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126 results

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Page 1
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: salhi a. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: salhi a. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Prognosis and response to laser treatment of early-onset hypertrophic port-wine stains (PWS).
Passeron T, Salhi A, Mazer JM, Lavogiez C, Mazereeuw-Hautier J, Galliot C, Collet-Villette AM, Labreze C, Boon L, Hardy JP, Fayard V, Livideanu CB, Toubel G, Georgescou G, Gral N, Maza A, Lacour JP. Passeron T, et al. Among authors: salhi a. J Am Acad Dermatol. 2016 Jul;75(1):64-8. doi: 10.1016/j.jaad.2016.02.1167. Epub 2016 Mar 19. J Am Acad Dermatol. 2016. PMID: 27004804
Residual lesions after Kasabach-Merritt phenomenon in 41 patients.
Enjolras O, Mulliken JB, Wassef M, Frieden IJ, Rieu PN, Burrows PE, Salhi A, Léauté-Labreze C, Kozakewich HP. Enjolras O, et al. Among authors: salhi a. J Am Acad Dermatol. 2000 Feb;42(2 Pt 1):225-35. doi: 10.1016/s0190-9622(00)90130-0. J Am Acad Dermatol. 2000. PMID: 10642677
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Callewaert B, et al. Among authors: salhi a. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.
[Reactive perforating collagenosis].
Salhi A, Heid E, Grosshans E, Cribier B. Salhi A, et al. Ann Dermatol Venereol. 2012 Jun;139(6-7):481-5. doi: 10.1016/j.annder.2012.04.156. Epub 2012 May 30. Ann Dermatol Venereol. 2012. PMID: 22721482 French.
Becker's nevus syndrome revisited.
Danarti R, König A, Salhi A, Bittar M, Happle R. Danarti R, et al. Among authors: salhi a. J Am Acad Dermatol. 2004 Dec;51(6):965-9. doi: 10.1016/j.jaad.2004.06.036. J Am Acad Dermatol. 2004. PMID: 15583590 Review. No abstract available.
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH. Oeffner F, et al. Among authors: salhi a. Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014. Am J Hum Genet. 2009. PMID: 19361614 Free PMC article.
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A. Lévy R, et al. Among authors: salhi a. Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7. Proc Natl Acad Sci U S A. 2016. PMID: 27930337 Free PMC article.
126 results