Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Sarah B. Pierce"'
Autor:
Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell
Publikováno v:
Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2c7e1b70693539f410e6b9be36256
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
Autor:
Barbara M. Norquist, Moien Kanaan, Fouad Zahdeh, Mary Claire King, Sarah B. Pierce, Lara Kamal, Suhair Lolas, Grace Rabie, Ephrat Levy-Lahad, Amal Abu Rayyan, Orit Lobel, Christina Canavati, Tamara Jaraysa
Publikováno v:
Cold Spring Harbor Molecular Case Studies
COLD SPRING HARBOR MOLECULAR CASE STUDIES
COLD SPRING HARBOR MOLECULAR CASE STUDIES
Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, and sensitivity of chromosomes to DNA cross-linking agents. One of the 22 genes responsible for Fanconi anem
Autor:
Aaron Seo, Tanya Krasnov, Suleyman Gulsuner, Orly Dgany, Tom Walsh, Sergei Doulatov, Akiko Shimamura, Sarah B. Pierce, Hannah Tamary, Hanna Shalev, Miri Ben-Harosh, Mary Claire King
Publikováno v:
Human Molecular Genetics. 28:133-142
Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole-exome s
Autor:
Tom Walsh, Rachel E. Klevit, Jon McClellan, Sarah B. Pierce, Abhinav Dhall, Mary Claire King, Suleyman Gulsuner, Mikaela D. Stewart
Publikováno v:
Proceedings of the National Academy of Sciences. 115:1558-1563
RING1 is an E3-ubiquitin ligase that is involved in epigenetic control of transcription during development. It is a component of the polycomb repressive complex 1, and its role in that complex is to ubiquitylate histone H2A. In a 13-year-old girl wit
Autor:
Dima Dweik, Mary Claire King, Tom Walsh, Moien Kanaan, Yasmin A. Issa, Amal Abu Rayyan, Lara Kamal, Ming K. Lee, Sarah B. Pierce
Publikováno v:
European Journal of Human Genetics. 24:1430-1435
Tooth development is controlled by the same processes that regulate formation of other ectodermal structures. Mutations in the genes underlying these processes may cause ectodermal dysplasia, including severe absence of primary or permanent teeth. Fo
Autor:
Ming Lee, Tom Walsh, Mehmed M. Atik, Yavuz Bayram, Serap Turan, Davut Pehlivan, Tulay Guran, Ece Böber, Mary Claire King, Richard A. Gibbs, Hilal Unal Gulsuner, James R. Lupski, Ayhan Abaci, Ender Karaca, Suleyman Gulsuner, Sarah B. Pierce, Gozde Yesil, Atilla Büyükgebiz, Shalini N. Jhangiani, Abdullah Bereket, Tomasz Gambin, Donna M. Muzny, Eric Boerwinkle, Zeynep Atay
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 100:E808-E814
Copyright © 2015 by the Endocrine Society.Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropin
Autor:
Marta Newby, Alan Martin, Yukiko Matsuda, Hirofumi Maruyama, Mary Claire King, Tom Walsh, Hiroyuki Morino, Keiko Hiraki-Kamon, Sarah B. Pierce, Hideshi Kawakami, Rachel E. Klevit, Ming K. Lee, Masahito Kuramochi, Ryosuke Ohsawa
Publikováno v:
Neurology. 83:2054-2061
Objective: To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome.
Autor:
Michael J. MacCoss, Sharon Zeligson, Sarah B. Pierce, Ephrat Levy-Lahad, Sunday M. Stray, Michael S. Bereman, Arno G. Motulsky, Siv Fokstuen, Jessica B. Mandell, Mary Claire King, Ming K. Lee, Cailyn Spurrell
Publikováno v:
Proceedings of the National Academy of Sciences. 108:18313-18317
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations res
Autor:
Rachel E. Klevit, Tom Walsh, Mary Claire King, Sarah B. Pierce, Eric D. Lynch, Karen M. Chisholm, John M. Opitz, Weiqing Li, Ming K. Lee
Publikováno v:
Proceedings of the National Academy of Sciences. 108:6543-6548
Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss. In a nonconsanguineous family with five affected siblings, linkage analysis and genomic sequencing revealed the ge
Autor:
Tom Walsh, Rachel E. Klevit, Anne M. Thornton, Mary Claire King, Ming K. Lee, Ephrat Levy-Lahad, Karen M. Chisholm, Agata Fiumara, Sarah B. Pierce, John M. Opitz
Publikováno v:
The American Journal of Human Genetics. 87(2):282-288
Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some patients, neurological manifestations. No genes for Perrault syndrome have heretofore been identif