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Page 1
Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. Among authors: romano mt. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Among authors: romano mt. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Hsu CK, et al. Among authors: romano mt. J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10. J Invest Dermatol. 2017. PMID: 28087452 Free article. No abstract available.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z. Wang H, et al. Among authors: romano mt. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3. Am J Hum Genet. 2020. PMID: 32497488 Free PMC article.
An unusual case of anisocoria by vegetal intoxication: a case report.
Macchiaiolo M, Vignati E, Gonfiantini MV, Grandin A, Romano MT, Salata M, Valentini D, Villani A. Macchiaiolo M, et al. Among authors: romano mt. Ital J Pediatr. 2010 Jul 20;36:50. doi: 10.1186/1824-7288-36-50. Ital J Pediatr. 2010. PMID: 20646270 Free PMC article.
33 results