Výsledky vyhledávání - "Meire, Francoise"

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Autor: Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M, Williamson, Kathleen A, Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S, Stewart, Fiona, Willoughby, Colin E, McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I, Silva, Eduardo D, Madlom, Mukhlis M, Goudie, David R, Fleck, Brian W, Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D, Gardiner, Carol, Yale, Christopher, Moore, Anthony T, Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L, Tuft, Stephen J, Solano, Juan B, Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E, Shears, Deborah J, Nischal, Ken K, Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I Karen, Lachlan, Katherine L, Damante, Giuseppe, Morrison, Danny A, van Heyningen, Veronica, FitzPatrick, David R

Publikováno v: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
Ansari, M, Rainger, J, Hanson, I M, Williamson, K A, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, D S, Stewart, F, Willoughby, C E, McEntagart, M, Khaw, P T, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, E I, Silva, E D, Madlom, M M, Goudie, D R, Fleck, B W, Wieczorek, D, Kohlhase, J, McTrusty, A D, Gardiner, C, Yale, C, Moore, A T, Russell-Eggitt, I, Islam, L, Lees, M, Beales, P L, Tuft, S J, Solano, J B, Splitt, M, Hertz, J M, Prescott, T E, Shears, D J, Nischal, K K, Doco-Fenzy, M, Prieur, F, Temple, I K, Lachlan, K L, Damante, G, Morrison, D A, Van Heyningen, V & Fitzpatrick, D R 2016, ' Genetic analysis of 'PAX6-negative' individuals with aniridia or Gillespie Syndrome ', PLoS ONE, vol. 11, no. 4, e0153757 . https://doi.org/10.1371/journal.pone.0153757
Ansari, M, Rainger, J, Hanson, I M, Williamson, K A, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, D S, Stewart, F, Willoughby, C E, McEntagart, M, Khaw, P T, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, E I, Silva, E D, Madlom, M M, Goudie, D R, Fleck, B W, Wieczorek, D, Kohlhase, J, McTrusty, A D, Gardiner, C, Yale, C, Moore, A T, Russell-Eggitt, I, Islam, L, Lees, M, Beales, P L, Tuft, S J, Solano, J B, Splitt, M, Hertz, J M, Prescott, T E, Shears, D J, Nischal, K K, Doco-Fenzy, M, Prieur, F, Temple, I K, Lachlan, K L, Damante, G, Morrison, D A, van Heyningen, V & FitzPatrick, D R 2016, ' Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome ', PLoS ONE, vol. 11, no. 4, e0153757 . https://doi.org/10.1371/journal.pone.0153757
Ansari, M, Rainger, J, Hanson, I M, Williamson, K A, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, D S, Stewart, F, Willoughby, C E, McEntagart, M, Khaw, P T, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, E I, Silva, E D, Madlom, M M, Goudie, D R, Fleck, B W, Wieczorek, D, Kohlhase, J, McTrusty, A D, Gardiner, C, Yale, C, Moore, A T, Russell-Eggitt, I, Islam, L, Lees, M, Beales, P L, Tuft, S J, Solano, J B, Splitt, M, Hertz, J M, Prescott, T E, Shears, D J, Nischal, K K, Doco-Fenzy, M, Prieur, F, Temple, I K, Lachlan, K L, Damante, G, Morrison, D A, van Heyningen, V & Fitzpatrick, D R 2016, ' Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome ', PLOS ONE, vol. 11, no. 4 . https://doi.org/10.1371/journal.pone.0153757
PLoS ONE
PLOS ONE

We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b419a8b5c02274a6d4ce7c22ad97226a
http://europepmc.org/articles/PMC4849793?pdf=render

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Publikováno v: McEntagart, M, Williamson, K A, Rainger, J K, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, L T, Quigley, A, Rainger, J, Dixit, A, Lopaz Laso, E, Sanchez-Carpintero, R, Jesus, B, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, I K, Prieur, F, Williams, J, Clouston, P, Németh, A H, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, van Heyningen, V, Marsh, J A & Elmslie, F & FitzPatrick, D R 2016, ' A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect ', American Journal of Human Genetics, vol. 98, no. 5, pp. 981-992 . https://doi.org/10.1016/j.ajhg.2016.03.018

Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::03f656f32cf098438fe329e9548decfc
https://www.pure.ed.ac.uk/ws/files/24566437/A_Restricted_Repertoire_of_De_Novo_Mutations_in_ITPR1_Cause.pdf

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