Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Jullianne Diaz"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100497- (2023)
Externí odkaz:
https://doaj.org/article/b471f96005044569bbfb290f6ca22c43
Publikováno v:
American Journal of Medical Genetics Part A. 182:425-430
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima,
Publikováno v:
American Journal of Medical Genetics Part A. 182:584-590
The transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3) gene encodes a transcription factor that regulates embryonic stem cell (ESC) differentiation. Its phosphorylation by the lysosomal Rag GTPase signaling pathway leads to cytopla
Autor:
Emma Wakeling, Quan Li, Laurence E. Walsh, Maria J. Guillen Sacoto, Julie Vogt, Jeff L. Waugh, James R. Lupski, Elizabeth E. Palmer, Alan F. Rope, Robert Kleyner, Amalia Mallawaarachchi, Sebastian Lunke, Jennifer E. Posey, Pankaj B. Agrawal, Sebastien Moutton, Laurence Faivre, Zornitza Stark, Prosper Lukusa, Emily Fassi, Gareth Baynam, Gabriela Soares, Antonie D. Kline, Sonja A. de Munnik, Sarah A. Sandaradura, Chunhua Weng, Lucinda Murray, Lisa Ewans, Ganka Douglas, Eyby Leon, Shehla Mohammed, Marcia C. Willing, Elaine Marchi, Nora Alexander, Paul R. Mark, Joris Vermeesch, Lauren Dreyer, Aimé Lumaka, Koenraad Devriendt, Gholson J. Lyon, Helena Ahlfors, Katelyn Payne, Piatek G. Stefan, Jullianne Diaz, Lesley C. Adès, Simona Capponi, Jean-Baptiste Rivière, Michael F. Buckley, Amber Begtrup, H. T. Marc Timmers, Tony Roscioli, Mengge Zhao, Ana R. Gonçalves, Hanyin Cheng, Lisa Worgan, Kai Wang, Jorge Oliveira
Publikováno v:
Hum Mutat
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial st
Publikováno v:
Genetics in Medicine. 24:S213-S214
Autor:
Paula Goldenberg, Jeffrey D. Calhoun, Eyby Leon, Sunita N. Misra, Ethan M. Goldberg, Carlos G. Vanoye, Isabelle Thiffault, Kevin A. Strauss, Jennifer A. Kearney, Neil R. Friedman, Ali Torkamani, John Millichap, Jasper J. van der Smagt, Lauren E. Grote, Mark C. Hannibal, Katarina L. Fabre, Dennis M. Echevarria, Robert P. Carson, Dianalee McKnight, Jullianne Diaz, Jessica Litwin, Bryan Lynch, Annapurna Poduri, John B. O’Connor, Eric D. Marsh, Alfred L. George, Carol J. Saunders, Allison Schreiber, Joseph E. Jacher, Laurie A. Demmer, Koen L.I. van Gassen, Seok Kyu Kang
Publikováno v:
Annals of Neurology. 86:899-912
Objective Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel KV 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of
Autor:
Leah Slattery, Emma L. Baple, Hilde Van Esch, Eyby Leon, Farida Abid, Margaret P. Adam, Bo Yuan, Cecilie F. Rustad, Amy M. Breman, Juanita Neira, Weimin Bi, Weihong Jin, Olivia Wenger, Yaping Yang, Jill A. Rosenfeld, John Dean, Laura Jenkins, Jennifer E. Posey, Chin-To Fong, Christian P. Schaaf, Asbjørg Stray-Pedersen, Lettie E. Rawlins, Teresa Santiago-Sim, Marguerite Pietryga, Linda A. Ramsdell, Sau Wai Cheung, Jullianne Diaz, Davut Pehlivan, Laura Martin, Andrew H. Crosby, Chad A. Shaw, Christine M. Eng, Louanne Hudgins, Pengfei Liu, Dorothy K. Grange, Suneeta Madan-Khetarpal, James R. Lupski, LaDonna Immken, Alison A. Bertuch, Marianne McGuire, Kristian Tveten, Xiaofei Song, Scott E. Hickey, Rui Xiao, Vipulkumar Patel, Janice L. Smith
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange Syndrome (CdLS). We aim to delineate mutations in known and candidate cohesinopathy genes from a clinical exome perspective. Methods: We retrospect
Publikováno v:
Translational Science of Rare Diseases. 3:139-144
Publikováno v:
Mol Syndromol
Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18038b0d479c3d65765cf15a5b69e4f2
https://europepmc.org/articles/PMC8215960/
https://europepmc.org/articles/PMC8215960/
Autor:
Colin A. Johnson, Valentina Stanley, Chen Li, Alexander Neumann, Mohamed S. Abdel-Hamid, Eamonn Sheridan, Arnout P. Kalverda, Elizabeth M. A. Valleley, Ghayda Mirzaa, Patrick M. Gaffney, Heidi L. Rehm, Paula Anzenberg, Danny Antaki, Iain W. Manfield, Alice Webb, Brian H.Y. Chung, Sherif F. Abdel‐Ghafar, Grace E. VanNoy, Nhi Lang, Guoliang Chai, Lynn Pais, David A. Parry, David T. Bonthron, Clare V. Logan, Mandy H.Y. Tsang, Sangmoon Lee, Joseph G. Gleeson, Alysia Kern Lovgren, Maha S. Zaki, Klaas J. Wierenga, Trevor Marshall, Xiaoxu Yang, Martin W. Breuss, Patricia A. Jennings, Mahmoud Y. Issa, Jullianne Diaz, Eyby Leon
Publikováno v:
Neuron, vol 109, iss 2
Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef24cf589c2884c763b071aada9b96f
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf