Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Angelique Davis-Williams"'
Autor:
Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
Publikováno v:
Human Mutation. 41:150-168
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423d7100f94d7f74a7d5bf50aa5f936b
https://doi.org/10.1002/humu.23902
https://doi.org/10.1002/humu.23902
Autor:
Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S. Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A. Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Human Mutation. 41
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f411cb5524664f133d4356ccc1fedd69
https://doi.org/10.1002/humu.23967
https://doi.org/10.1002/humu.23967
Autor:
Z.A. Yuan, Alan Brook, Grace M. Hobson, Jennifer Kirkham, Linda Banser, Angelique Davis-Williams, Melissa Aragon, Carolyn W. Gibson
Publikováno v:
American Journal of Medical Genetics Part A. :1698-1705
A female patient is described with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental enamel defects, having an appearance compatible with X-linked amelogenesis imperfecta (XAI). Genomic DNA was purified from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f780825138ef795d89947239cc29c1af
https://doi.org/10.1002/ajmg.a.32968
https://doi.org/10.1002/ajmg.a.32968
Autor:
Edwin H. Kolodny, Fuki M. Hisama, Maurice J. Mahoney, Aviva Fattal-Valevski, James Y. Garbern, Angelique Davis-Williams, Gregory M. Pastores, Miriam S. DiMaio, Grace M. Hobson
Publikováno v:
Journal of child neurology. 24(5)
Pelizaeus-Merzbacher disease is a rare X-linked disorder caused by mutations of the proteolipid protein 1 gene that encodes a structural component of myelin. It is characterized by progressive psychomotor delay, nystagmus, spastic quadriplegia, and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::619f4886ef155c04cc91cfe2f0b5a88c
https://pubmed.ncbi.nlm.nih.gov/19151366
https://pubmed.ncbi.nlm.nih.gov/19151366