Zobrazeno 1 - 10
of 230
pro vyhledávání: '"R-spondin 4 (RSPO4)"'
Autor:
Ishii, Yoshiyuki 1, Wajid, Muhammad 1, Bazzi, Hisham 2, Fantauzzo, Katherine A. 2, Barber, Alison G. 2, Blaydon, Diana C. 3, Nam, Ju-Suk 4, Yoon, Jeong K. 4, Kelsell, David Peter 3, Christiano, Angela M. 1, 2, *
Publikováno v:
In Journal of Investigative Dermatology April 2008 128(4):867-870
Autor:
Blaydon, Diana C.1, Ishii, Yoshiyuki2, O'Toole, Edel A.1, Unsworth, Harriet C.1, Teh, Muy-Teck1, Rüschendorf, Franz3, Sinclair, Claire1, Hopsu-Havu, Väinö K.4, Tidman, Nicholas5, Moss, Celia6, Watson, Rosemarie7, de Berker, David8, Wajid, Muhammad2, Christiano, Angela M.2, Kelsell, David P.1 d.p.kelsell@qmul.ac.uk
Publikováno v:
Nature Genetics. Nov2006, Vol. 38 Issue 11, p1245-1247. 3p. 2 Color Photographs.
Akademický článek
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Autor:
Hisham Bazzi, Yoshiyuki Ishii, David P. Kelsell, Alison G. Barber, Katherine A. Fantauzzo, Jeong Kyo Yoon, Diana C. Blaydon, Angela M. Christiano, Muhammad Wajid, Ju-Suk Nam
Publikováno v:
Journal of Investigative Dermatology. 128:867-870
Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied five consanguineous Pakistani families with recessive inheritance of a combination of anonychia and hyponychia. Homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940243a9da40c9a03dcec139e8413132
https://doi.org/10.1038/sj.jid.5701078
https://doi.org/10.1038/sj.jid.5701078
Autor:
Peter Nürnberg, Arif B. Ekici, D. Anhuf, Gudrun Nürnberg, André Reis, Dominik Seelow, Jorge Frank, M.A.M. van Steensel, Christian Thiel, Jan Senderek, H.H. Schild, Klaus Zerres, Carsten Bergmann, Pamela Poblete-Gutiérrez
Publikováno v:
The American Journal of Human Genetics. 79(6):1105-1109
Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German nonconsanguineous family with four affected and five unaffected siblings with isolated total congenital anonychia, we perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb452f50f38115b8610ce843dee8cc6
Autor:
Muhammad Wajid, Franz Rüschendorf, Väinö K Hopsu-Havu, Yoshiyuki Ishii, Claire Sinclair, Celia Moss, Rosemarie Watson, Edel A. O'Toole, Diana C. Blaydon, H Unsworth, Nicholas Tidman, David P. Kelsell, Muy-Teck Teh, Angela M. Christiano, D. De Berker
Publikováno v:
Nature genetics. 38(11)
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a298d917a41d65d73e7b75c8fdf2c8
https://pubmed.ncbi.nlm.nih.gov/17041604
https://pubmed.ncbi.nlm.nih.gov/17041604
Autor:
Bergman, C.1 cbergmann@ukaachen.de, Senderek, J.1, Anhuf, D.1, Thiel, C. T.2, Ekici, A. B.2, Poblete-Gutiéerrez, P.3, van Steensel, M.3, Seelow, D.4,5, Nürnberg, G.4,5, Schild, H. H.6, Nürnberg, P.4, Reis, A.2, Frank, J.3, Zerres, K.1
Publikováno v:
American Journal of Human Genetics. Dec2006, Vol. 79 Issue 6, p1105-1109. 5p.
Autor:
Sabrina Daniela da Silva, Grégoire B. Morand, Luciana Diesel, Jefferson Muniz de Lima, Krikor Bijian, Senthilkumar Kailasam, Francois Lefebvre, Guillaume Bourque, Michael Hier, Moulay A. Alaoui-Jamali
Publikováno v:
Cells, Vol 12, Iss 1, p 139 (2022)
Papillary thyroid carcinoma (PTC) is the most common malignancy of the thyroid gland and early stages are curable. However, a subset of PTCs shows an unusually aggressive phenotype with extensive lymph node metastasis and higher incidence of locoregi
Externí odkaz:
https://doaj.org/article/53ed4e642d924035ae6c8d7d72a6623a
Autor:
Axelsson, Gisli Thor1,2 (AUTHOR), Jonmundsson, Thorarinn1,3 (AUTHOR), Woo, Youngjae4 (AUTHOR), Frick, Elisabet Alexandra1 (AUTHOR), Aspelund, Thor1,3 (AUTHOR), Loureiro, Joseph J.4 (AUTHOR), Orth, Anthony P.5 (AUTHOR), Jennings, Lori L.4 (AUTHOR), Gudmundsson, Gunnar3,6 (AUTHOR), Emilsson, Valur1,3 (AUTHOR), Gudmundsdottir, Valborg1,3 (AUTHOR) valborgg@hi.is, Gudnason, Vilmundur1,3 (AUTHOR) v.gudnason@hjarta.is
Publikováno v:
Respiratory Research. 1/18/2024, Vol. 25 Issue 1, p1-14. 14p.
Autor:
Maier-Wohlfart, Sigrun, Aicher, Carmen, Willershausen, Ines, Peschel, Nicolai, Meißner, Udo, Gölz, Lina, Schneider, Holm
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2119
We report on a cohort of 204 children referred between January 2017 and January 2022 to the German Center for Ectodermal Dysplasias, Erlangen. The most frequent reasons for referral were tooth malformations and lack of multiple teeth leading to the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d260e0429f01a3a915c8bc846f0aa72