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pro vyhledávání: '"Mariann Tihanyi"'
Autor:
Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
Publikováno v:
European Journal of Medical Research, Vol 22, Iss 1, Pp 1-8 (2017)
Abstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24
Externí odkaz:
https://doaj.org/article/bb51dfc20d624efebb356ce4b7cc9918
Autor:
Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó
Publikováno v:
European journal of medical genetics. 63(10)
The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developm
Autor:
Márta Erzsébet Vinkler, György Tüske, Márta Széll, Mária Szenes, Gyula Herr, Györgyi Hohl, Mariann Tihanyi, Gyöngyi Nagy, Beáta Gasztonyi, János Horváth, Nikoletta Nagy
Publikováno v:
Orvosi Hetilap. 156:979-984
Muir–Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequ
Autor:
Katalin Farkas, Lajos Kemény, Nikoletta Nagy, Krisztina Vas, B. Fábos, Mariann Tihanyi, Zsanett Csoma, Kornélia Tripolszki, Réka Németh, L. Tóth, Márta Széll, Adrienn Sulák
Publikováno v:
European Journal of Medical Research
European Journal of Medical Research, Vol 22, Iss 1, Pp 1-8 (2017)
European Journal of Medical Research, Vol 22, Iss 1, Pp 1-8 (2017)
Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been
Autor:
Erzsébet Balogh, László Bognár, Beáta Bessenyei, Attila Mokánszki, Andrea Nagy, Anikó Ujfalusi, Katalin Szakszon, Éva Oláh, Mariann Tihanyi, László Novák
Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::629c637d290900c2f5669d375264cedc
Pfeiffer syndrome is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and limb anomalies. The majority of cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. A specifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5174a4c824566bafb18d0bdb5a1c39c1
Autor:
Edel A. O'Toole, Mariann Tihanyi, Celia Moss, Malcolm H.A. Rustin, Chris Bennett, Philip Bland, Catherine M T Chronnell, Daniel Poon, László Gárdos, Ishwar C. Verma, Daniela Nitoiu, John I. Harper, Saleem M. Taibjee, Nigel Burrows, David P. Kelsell, Diana C. Blaydon, Bernard Conrad, David Bourn, Andrea Császár, Vincent Plagnol, Claire A. Scott
Publikováno v:
The Journal of investigative dermatology. 133(2)
cated that MBTPS2 is mainly expressed in the upper granular layer in normal skin, as previously shown (Aten et al., 2010); however, in OS skin, MBTPS2 was expressed throughout the epidermis (Figure 2c). There was no apparent difference in MBTPS2 loca
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