Search Results - "Kajanoja, E"

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies by Ryynänen, M, Heinonen, S, Makkonen, M, Kajanoja, E, Mannermaa, A, Pertti, K

“…Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their…”
Get full text

Deletion in the FMR1 gene a fragile-X male: X-Linked mental retardation. Part II by MANNERMAA, A, PULKKINEN, L, KAJANOJA, E, RYYNÄNEN, M, SAARIKOSKI, S

Get full text

Deletion in the FMR1 gene in a fragile-X male by Mannermaa, Arto, Pulkkinen, Leena, Kajanoja, Eliisa, Ryynänen, Markku, Saarikoski, Seppo

“…The pathogenesis of Fragile‐X syndrome is a consequence of absence of the FMR1 gene product associated with expansion of the CGG repeat and abnormal…”
Get full text

Fragile X founder effects and new mutations in Finland by Zhong, Nan, Kajanoja, Eliisa, Smits, Bram, Pietrofesa, James, Curley, Dennis, Wang, Dauwen, Ju, Weina, Nolin, Sally, Dobkin, Carl, Ryynänen, Markku, Brown, W. Ted

“…The apparent associations between fragile X mutations and nearby microsatellites may reflect both founder effects and microsatellite instability. To gain…”
Get full text

Fragile X founder effects and new mutations in Finland: X-Linked mental retardation. Part I by ZHONG, N, KAJANOJA, E, BROWN, W. T, SMITS, B, PIETROFESA, J, CURLEY, D, WANG, D, JU, W, NOLIN, S, DOBKIN, C, RYYNÄNEN, M

Get full text

A survey of FRAXE allele sizes in three populations: X-Linked mental retardation. Part II by ZHONG, N, JU, W, GOU, S, KAJANOJA, E, RYYNÄNEN, M, DOBKIN, C, BROWN, W. T, CURLEY, D, WANG, D, PIETROFESA, J, WU, G, SHEN, Y, PANG, C, POON, P, LIU, X

Get full text

A survey of FRAXE allele sizes in three populations by Zhong, Nan, Ju, Weina, Curley, Dennis, Wang, Daowen, Pietrofesa, James, Wu, Guanyan, Shen, Yan, Pang, Calvin, Poon, Priscilla, Liu, Xixian, Gou, Shen, Kajanoja, Eliisa, Ryynänen, Markku, Dobkin, Carl, Brown, W. Ted

“…FRAXE is a fragile site located at Xq27‐8, which contains polymorphic triplet GCC repeats associated with a CpG island. Similar to FRAXA, expansion of the GCC…”
Get full text