Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Suzanne E. Clements"'
Autor:
Celine Pourreyron, Joey Lai-Cheong, John A. McGrath, Tanasit Techanukul, John B. Mee, Andrew P. South, Nicola Burrows, Jemima E. Mellerio, Suzanne E. Clements
Publikováno v:
British Journal of Dermatology. 167:134-144
Summary Background AEC (ankyloblepharon–ectodermal defects–clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. Clinically, the skin is dry and often fragile; other feature
Autor:
Suzanne E. Clements, S. T. Holden, Jemima E. Mellerio, Huw Dorkins, F. Escande, John A. McGrath, Tanasit Techanukul
Publikováno v:
British Journal of Dermatology. 163:624-629
Summary Background Rapp–Hodgkin syndrome (RHS) and Hay–Wells [also known as ankyloblepharon–ectodermal defects–cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having over
Publikováno v:
British Journal of Dermatology. 162:201-207
Summary EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) syndrome is an autosomal dominant developmental disorder. Characteristic clinical features comprise abnormalities in several ectodermal structures including skin, hair, teeth, na
Autor:
Siegfried Ussar, Ian R. Hart, Jean-Baptiste Barbaroux, John B. Mee, Sethuraman Gomathy, Tanasit Techanukul, John A. McGrath, Suzanne E. Clements, Maddy Parsons, Andrew P. South, Akio Tanaka, Joey Lai-Cheong, Noor Almaani
Publikováno v:
The American Journal of Pathology. 175:1431-1441
Kindler syndrome is an autosomal recessive disorder characterized by skin atrophy and blistering. It results from loss-of-function mutations in the FERMT1 gene encoding the focal adhesion protein, fermitin family homolog-1. How and why deficiency of
Autor:
Derek Ruths, Maranke I. Koster, Virginia P. Sybert, Vivian A. Lombillo, Dennis R. Roop, Edward A. Ratovitski, Caterina Missero, Laura D. Attardi, Frank McKeon, Suzanne E. Clements, Meena R. Julapalli, Alanna F. Bree, Hans vanBokhoven, Elaine C. Siegfried, Mary Fete
Publikováno v:
American Journal of Medical Genetics Part A. :1885-1893
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstre
Autor:
M. El-Darouti, Suzanne E. Clements, Kenneth Fong, John A. McGrath, Jemima E. Mellerio, Ghada El-Kamah, Joey Lai-Cheong
Publikováno v:
British Journal of Dermatology. 161:115-127
Publikováno v:
British Journal of Dermatology. 160:1103-1109
Summary Focal dermal hypoplasia (FDH) is an X-linked dominant disorder featuring developmental abnormalities of ectodermal and mesodermal tissues. Pathogenic mutations in the PORCN gene (locus Xp11.23) were identified in 2007 and thus far 27 differen
Autor:
Elisabeth Rosser, Suzanne E. Clements, Rowdy Meijer, Evert N. Lamme, Pascal H.G. Duijf, Han G. Brunner, John A. McGrath, Emine Bolat, Huiqing Zhou, Hans van Bokhoven, Tiong Yang Tan, Joost Schalkwijk, Hans Scheffer, Tuula Rinne
Publikováno v:
Human Molecular Genetics, 17, 1968-1977
Human Molecular Genetics, 17, 13, pp. 1968-1977
Human Molecular Genetics, 17, 13, pp. 1968-1977
Contains fulltext : 69170.pdf (Publisher’s version ) (Open Access) Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. These
Publikováno v:
Journal of Dermatological Science. 49:39-42
Summary Background Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto–mesodermal development. Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnorma
Autor:
Thais Harumi Sakuma, Hiroshi Shimizu, John A. McGrath, Sian T. Hartshorne, Danilo Nakao Odashiro, Joey Lai-Cheong, Balbir S. Bhogal, Gunter Hans-Filho, Gunter Hans-Neto, Suzanne E. Clements, Ken Arita, Andrew P. South, Maxine V. Holder, Masashi Akiyama, Maçanori Odashiro, Nelise Ritter Hans
Publikováno v:
The American Journal of Human Genetics. 82(1):73-80
Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis. FPLCA has been mapped to 5p13.1-q1