Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maya Landan"'
Autor:
Ophir D. Klein, Rosalie Brao, Zhifeng Wang, Maya Landan, Benedikt Hallgrímsson, Dorothy K. Grange, Margaret Langham, Snehlata Oberoi, Richard A. Spritz, Ramsey Johnson, Jacinda R. Larson, Kenneth M. Huttner, Vagan Mushegyan, Andrew H. Jheon, Anne Boekelheide, Alice F. Goodwin, Timothy Wen, Kyle B. Jones, Denise K. Liberton
Publikováno v:
Molecular Genetics & Genomic Medicine
Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d7560e5266662508f5c031b2f7d319
https://doi.org/10.1002/mgg3.84
https://doi.org/10.1002/mgg3.84
Autor:
Andrew H. Jheon, Kenneth M. Huttner, Maya Landan, Ophir D. Klein, Jacob Hogue, Alice F. Goodwin, Wenli Yu, Ramsey Johnson, Dong-Kha Tran, Mary Fete, Tarek Hussein, Miquella G. Chavez, Kyle B. Jones, Kerstin Seidel
Publikováno v:
American journal of medical genetics. Part A, vol 161A, iss 7
Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0969bba469146c916b9f8901945bbed8
https://doi.org/10.1002/ajmg.a.35959
https://doi.org/10.1002/ajmg.a.35959
Autor:
Maya Landan, Snehlata Oberoi, Cecilia Fairley, Cyril Charles, William E. Tidyman, Alice F. Goodwin, Ophir D. Klein, Jessica C. Groth, Anna Martinez, Lauren A. Weiss, Katherine A. Rauen
Publikováno v:
Clinical Genetics. 83:539-544
Cardio-facio-cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen-activated protein kinase (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2372f4b2f7b38ed46cc476b322f986b1
https://doi.org/10.1111/cge.12005
https://doi.org/10.1111/cge.12005
Autor:
Cyril Charles, Ophir D. Klein, Maya Landan, Snehlata Oberoi, Katherine A. Rauen, Cecilia Fairley, Alice F. Goodwin, Jessica C. Massie
Publikováno v:
American journal of medical genetics. Part A, vol 164A, iss 6
Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fd303490107e32d7aa99c0270e9802
https://escholarship.org/uc/item/1qs5q956
https://escholarship.org/uc/item/1qs5q956
Autor:
Goodwin, Alice F.1, Larson, Jacinda R.2,3, Jones, Kyle B.1, Liberton, Denise K.2, Landan, Maya1, Wang, Zhifeng1, Boekelheide, Anne4, Langham, Margaret4, Mushegyan, Vagan1, Oberoi, Snehlata1,4, Brao, Rosalie1, Wen, Timothy1, Johnson, Ramsey5, Huttner, Kenneth5, Grange, Dorothy K.6, Spritz, Richard A.7, Hallgrímsson, Benedikt2,8, Jheon, Andrew H.1,4, Klein, Ophir D.1,4,9
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2014, Vol. 2 Issue 5, p422-429. 8p.
Autor:
Goodwin, Alice F., Oberoi, Snehlata, Landan, Maya, Charles, Cyril, Massie, Jessica C., Fairley, Cecilia, Rauen, Katherine A., Klein, Ophir D.
Publikováno v:
American Journal of Medical Genetics. Part A; Jun2014, Vol. 164A Issue 6, p1425-1430, 6p
Autor:
Jones, Kyle B., Goodwin, Alice F., Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H., Klein, Ophir D.
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2013, Vol. 161A Issue 7, p1585-1593, 9p