Výsledky vyhledávání - "Donna Daentl"

A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

Autor: Ethylin Wang Jabs, Miao Sun, Julia E. VanderMeer, William R. Wilcox, Donna Daentl, Reymundo Lozano, Nadav Ahituv, Yuan Xue

Publikováno v: Human Mutation. 35:945-948

Point mutations in the zone of polarizing activity regulatory sequence (ZRS) are known to cause human limb malformations. Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the Z

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa199d6e8f77f60f69b52e542631ce61
https://doi.org/10.1002/humu.22581

Zobrazit plný text záznamu

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Autor: Geoffrey P. Miller, Pedro Mancias, James R. Lupski, Adekunle M. Adesina, Kinga Szigeti, Laura D Keppen, Peter J. Brophy, Wojciech Wiszniewski, Norbert Sule, Diane L. Sherman, Gulam Mustafa Saifi, Sozos Ch. Papasozomenos, Donna Daentl

Publikováno v: Neurogenetics. 8:257-262

Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1f27aaba47ecace779ddb560d0ad0d
https://doi.org/10.1007/s10048-007-0094-0

Zobrazit plný text záznamu

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Autor: Ruth Sheffer, Ethylin Wang Jabs, John B. Mulliken, Ziva Ben-Neriah, Lionel Van Maldergem, George E. Hoganson, Michael L. Cunningham, Juanliang Cai, Donna Daentl, William A. Paznekas, Ankita Patel, Barbara K. Goodman

Publikováno v: Human Genetics. 114:68-76

The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mutations, frameshifts secondary to small

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26c7945d7f2f1c6ac9df9079708f05c5
https://doi.org/10.1007/s00439-003-1012-7

Zobrazit plný text záznamu

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

Autor: Carlos A. Bacino, Donna Daentl, Cornelius F. Boerkoel, James R. Lupski, Hiroshi Takashima

Publikováno v: Neurogenetics. 3(3)

Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c95e15c8a5456d9ea9d010e182e3934
https://pubmed.ncbi.nlm.nih.gov/11523566

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání