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340 results

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Page 1
Biallelic variants in RNU12 cause CDAGS syndrome.
Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA 2nd. Xing C, et al. Among authors: irvine ad. Hum Mutat. 2021 Aug;42(8):1042-1052. doi: 10.1002/humu.24239. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34085356
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: irvine ad. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Among authors: irvine a. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. McAleer MA, et al. Among authors: irvine ad. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12. J Allergy Clin Immunol. 2015. PMID: 26073755 Free PMC article.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: irvine ad. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. Conte MI, et al. Among authors: irvine ad. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369
High-dose bilastine for the treatment of BASCULE syndrome.
Cunningham L, Dvorakova V, Browne F, Irvine AD. Cunningham L, et al. Among authors: irvine ad. Clin Exp Dermatol. 2021 Mar;46(2):357-358. doi: 10.1111/ced.14377. Epub 2020 Aug 26. Clin Exp Dermatol. 2021. PMID: 32658312 No abstract available.
340 results