Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Timothy J. Fete"'
Autor:
Nicolai Peschel, John T. Wright, Maranke I. Koster, Angus J. Clarke, Gianluca Tadini, Mary Fete, Smail Hadj-Rabia, Virginia P. Sybert, Johanna Norderyd, Sigrun Maier-Wohlfart, Timothy J. Fete, Nina Pagnan, Atila F. Visinoni, Holm Schneider
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2327
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. Fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be75a47a78e950e7c2aa430a0fe7bc84
https://pubmed.ncbi.nlm.nih.gov/36553593
https://pubmed.ncbi.nlm.nih.gov/36553593
Autor:
Rolanda A. Maxim, Samuel H. Zinner, Hisako Matsuo, Theresa M. Prosser, Mary Fete, Terry L. Leet, Timothy J. Fete
Publikováno v:
The Scientific World Journal, Vol 2012 (2012)
Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial.
Externí odkaz:
https://doaj.org/article/99e8884417e5445ba748aa518315bac8
Autor:
Angus John Clarke, Maranke I. Koster, Smail Hadj-Rabia, Clayton Butcher, Mary Fete, Gianluca Tadini, Clark M. Stanford, Nina Amália Brancia Pagnan, Madelaine Zinser, Maria I. Morasso, Átila F. Visinoni, Becky Abbott, John Timothy Wright, Rena N. D'Souza, Holm Schneider, Birgitta Bergendal, Virginia P. Sybert, Timothy J. Fete
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias that would integrate both clinical and molecular information. We propose the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05622f0703765814604929b6a4b60e3a
Autor:
Mary Fete, Timothy J. Fete
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:3-6
The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family-oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::314778f1f488a740c539f8591e4e6588
https://doi.org/10.1002/ajmg.c.31475
https://doi.org/10.1002/ajmg.c.31475
Autor:
Mary Fete, Stephanie Hsu, Sarah Bartz, Laura Pyle, Rebecca A. Ohman-Hanson, Timothy J. Fete, Shanlee M Davis, Kathleen J. Motil
Publikováno v:
American journal of medical genetics. Part A. 179(4)
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6c492fb45d47bffd6a2915a928034c
https://pubmed.ncbi.nlm.nih.gov/30693654
https://pubmed.ncbi.nlm.nih.gov/30693654
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (1)
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66fc2ad7ad884f1007088802410a271a
https://pubmed.ncbi.nlm.nih.gov/27001925
https://pubmed.ncbi.nlm.nih.gov/27001925
Autor:
Donna R. Halloran, Kathleen J. Motil, Alanna F. Bree, Raj Sindwani, Mary Fete, Bradley A. Becker, Timothy J. Fete, Barry J. Mark, Sopheak W. Srun
Publikováno v:
Annals of Allergy, Asthma & Immunology. 108:435-438
Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa7fa9edd93463aa0bcce22149ecef6
https://doi.org/10.1016/j.anai.2012.04.010
https://doi.org/10.1016/j.anai.2012.04.010
Autor:
Hisako Matsuo, Theresa M. Prosser, Rolanda Maxim, Timothy J. Fete, Mary Fete, Samuel H. Zinner, Terry Leet
Publikováno v:
The Scientific World Journal
The Scientific World Journal, Vol 2012 (2012)
The Scientific World Journal, Vol 2012 (2012)
Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4cde1a11bc651a62c37a4c01b85ecf
https://doi.org/10.1100/2012/532371
https://doi.org/10.1100/2012/532371
Autor:
Timothy J. Fete, Kathleen J. Motil
Publikováno v:
American Journal of Medical Genetics Part A. :1922-1925
Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition and the nutritional and gastrointestinal a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdfa10c032f71f313c607013fe6e1f6
https://doi.org/10.1002/ajmg.a.32789
https://doi.org/10.1002/ajmg.a.32789
Autor:
Timothy J. Fete
Publikováno v:
American journal of medical genetics. Part A. (10)
The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dcc7f66b5d061ed42164d232d049750
https://pubmed.ncbi.nlm.nih.gov/24842607
https://pubmed.ncbi.nlm.nih.gov/24842607