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Page 1
Alagille syndrome: cutaneous manifestations in 38 children.
Garcia MA, Ramonet M, Ciocca M, Cabrera H, Lapunzina P, Alvarez E, de Davila MT. Garcia MA, et al. Among authors: lapunzina p. Pediatr Dermatol. 2005 Jan-Feb;22(1):11-4. doi: 10.1111/j.1525-1470.2005.22102.x. Pediatr Dermatol. 2005. PMID: 15660889
Rothmund-Thomson syndrome and Addison disease.
Lapunzina P, Fonseca E, Gracia R, Delicado A. Lapunzina P, et al. Pediatr Dermatol. 1995 Jun;12(2):164-9. doi: 10.1111/j.1525-1470.1995.tb00146.x. Pediatr Dermatol. 1995. PMID: 7659645
Multiple giant pilomatricoma in familial Sotos syndrome.
Gilaberte Y, Ferrer-Lozano M, Oliván MJ, Coscojuela C, Abascal M, Lapunzina P. Gilaberte Y, et al. Among authors: lapunzina p. Pediatr Dermatol. 2008 Jan-Feb;25(1):122-5. doi: 10.1111/j.1525-1470.2007.00602.x. Pediatr Dermatol. 2008. PMID: 18304174 Review.
NOTCH2 mutations in Alagille syndrome.
Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB. Kamath BM, et al. Among authors: lapunzina p. J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29. J Med Genet. 2012. PMID: 22209762 Free PMC article.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
296 results