Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Mary K. Kukolich"'
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
Autor:
Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph
Autor:
David A. Stevenson, Karen Stals, Andrea Hanson-Kahn, Sian Ellard, Michael Bruccoleri, Clare E. Beesley, Emma Wakeling, Xiang-Jiao Yang, Matthew Wakeling, Sarah H. Elsea, Philippe M. Campeau, Angela Barnicoat, Meriel McEntagart, Richard Caswell, Charles Shaw-Smith, Mary K. Kukolich
Publikováno v:
Hgg Advances
HGG Advances, Vol 2, Iss 1, Pp 100015-(2021)
HGG Advances, Vol 2, Iss 1, Pp 100015-(2021)
Summary Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles o
Autor:
Jennifer Tarpinian, Alberto Fernández-Jaén, Deborah A. Nickerson, Michael J. Bamshad, Kosuke Izumi, Giovanni Battista Ferrero, Emma Bedoukian, Marcello Niceta, Brendan Lee, A. Micheil Innes, Yuri A. Zarate, Katherine A. Bosanko, Annie Laquerrière, Jennifer A. Bassetti, David Mowat, Beth Keena, Carolina Galaz-Montoya, Claudia Gonzaga-Jauregui, Boris Keren, Reid Sutton, Elaine H. Zackai, James R. Lupski, Constance F. Wells, Francesca Clementina Radio, Natalie Hauser, Dong Li, Grace U Ediae, Marco Tartaglia, Xiang-Jiao Yang, Para Chottil Soumya, Elizabeth J. Bhoj, Christine Coubes, Kinattinkara R. Subbaraman, Alain Verloes, Klaus Dieterich, John C. Carey, Mary K. Kukolich, Francisco Cammarata-Scalisi, Alper Gezdirici, Jessica X. Chong, Sirinart Molidperee, Amelle Shillington, Sarah L. Sawyer, David S. Liu, Ana Bracho, Li Xin Zhang, Richard A. Gibbs, Sheela Nampoothiri, Ingrid A. Holm, Philip M. Boone, Alyssa Ritter, Charlotte Dubucs, Philippe M. Campeau, Gabrielle Lemire, Maria Lisa Dentici, Jacqueline Aziza, Frank J. Probst, Karippoth Mohandas Nair, Millan S. Patel, Chester W. Brown
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genet Med
Universidad Europea (UEM)
Genet Med
Purpose :Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde38b83a56781321203d0daead97aba
http://hdl.handle.net/11268/10899
http://hdl.handle.net/11268/10899
Autor:
Michael F. Wangler, Zöe Powis, Shinya Yamamoto, Kristen L. Deak, Hugo J. Bellen, Elizabeth A. Worthey, Michelle D. Amaral, Anna C. Need, Peter G. Kranz, Cameron Mroske, Mary K. Kukolich, Ning Liu, Kelly Radtke, David P. Bick, Venkata Hemanjani Bhavana, Vandana Shashi, Shawn Levy, Loren D M Pena, Nicholas Stong, Kelly Schoch, Allyn McConkie-Rosell, M. Louise Markert, Xi Luo, Marie T. McDonald, Sarah Stringer
Publikováno v:
Human Molecular Genetics. 27:2454-2465
The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box g
Autor:
Jill A. Rosenfeld, Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, Angela E. Scheuerle, Dolores J. Lamb, David Rodriguez-Buritica, Nasim Bekheirnia, Aisha Al Shamsi, Yaping Yang, Ghayda M. Mirzaa, Yuxiao Xu, Rachel K. Miller, Mauricio R. Delgado, Patricia G. Wheeler, Matthew N. Bainbridge, Natalia Gomez-Ospina, Helen Rankin Willsey, Mark E. Corkins, Alexandria T.M. Blackburn, Lihadh Al-Gazali, Michael C. Braun, Pengfei Liu, Vanessa C. Uma, Mary K. Kukolich, Louanne Hudgins, Hsiao-Tuan Chao, Fernando Scaglia, Christine M. Eng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. Methods: A
Autor:
Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, David Rodriguez-Buritica, Lihadh Al-Gazali, Louanne Hudgins, Hsiao-Tuan Chao, Rachel K. Miller, Matthew N. Bainbridge, Christine M. Eng, Fernando Scaglia, Patricia G. Wheeler, Mary K. Kukolich, Ghayda M. Mirzaa, Michael C. Braun, Natalia Gomez-Ospina, Alexandria T.M. Blackburn, Nasim Bekheirnia, Yaping Yang, Vanessa C. Uma, Mauricio R. Delgado, Angela E. Scheuerle, Dolores J. Lamb, Jill A. Rosenfeld, Pengfei Liu, Aisha Al Shamsi
PurposeHaploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A mutations.MethodsA lar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e209a48169ae093584c2cbea33d9a867
Autor:
Robert Smigiel, Géraldine Joly-Helas, Linyan Meng, Gregory M. Cooper, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Bruno Kieffer, Christopher T. Gordon, Laurence Faivre, Rhonda E. Schnur, Sarah L. Dugan, Seema R. Lalani, Heather C Mefford, Susan M. Hiatt, Marlène Rio, Seiamak Bahram, Jamel Chelly, Caroline Schluth-Bolard, Tatiana Tvrdik, Alison M. Muir, Eva Erdmann, Aline Kolmer, Aurore Garde, Angélique Pichot, Raphael Carapito, Mary K. Kukolich, Andrea M. Lewis, David Hunt, Clémantine Dimartino, Aurore Morlon, Anne Molitor, Ingrid M. Wentzensen, Fabien Dutreux, Nicodème Paul, Carlos A. Bacino, Nina B. Gold, Frédéric Tran Mau-Them, Olaf Bodamer, Deciphering Developmental Disorders Study, Zijie Sun, Pinar Bayrak-Toydemir, Heather P. Crawford, Victoria Harrison, Jocelyn Céraline, Jeanne Amiel, Mira Kharbanda, Christina Hung, A. Hanauer, Anne-Marie Guerrot, David Viskochil, Bertrand Isidor, Maya Chopra, Kirsty McWalter, Lydie Naegely, Meredith Phillips, Xia Wang, Rafał Płoski, Noel Mensah-Bonsu, Ekaterina L. Ivanova, Magalie S. Leduc
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce89018be6a7579f0f2e0f77c8b7d7
Autor:
Usha Kini, Jonathan A. Bernstein, Matthew E. Hurles, Jennifer Glass, Katherine Selby, Han G. Brunner, Christiane Zweier, Ammar Husami, Megan Landsverk, Robert J. Hopkin, Mary K. Kukolich, Andrea Hanson-Kahn, R. Frank Kooy, Koenraad Devriendt, Daniele Merico, Clara D.M. van Karnebeek, Anne Gregor, Yoyo W. Y. Chu, Nicola Foulds, Brian H.Y. Chung, Maja Tarailo-Graovac, Frank McGehee, Christian R. Marshall, Bert B.A. de Vries, Alberto Fernández-Jaén, Stephanie Greville-Heygate, Kate Tatton Brown, Nathalie Van der Aa, Dorothea Gadzicki, Sara Álvarez, Dimitri J. Stavropoulos, David Chitayat, Margot I. Van Allen, Kathleen Collins, Ralitza H. Gavrilova, Katie Wusik, Janneke H M Schuurs-Hoeijmakers, Thomas A. Burrow
Publikováno v:
American Journal of Medical Genetics. Part A, 170, 3, pp. 670-5
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched
Autor:
Nicholas Katsanis, Rachel Laframboise, Myriam Srour, Catherine Fallet-Bianco, Erica E. Davis, Alexandre Dionne-Laporte, Anne-Marie Laberge, Guy A. Rouleau, Emmanuelle Lemyre, Luis H. Ospina, Brissa Martin, Mary K. Kukolich, Lysanne Patry, Bruno Maranda, Kym M. Boycott, Dorith Goldsher, Christine Massicotte, F. Rypens, Stavit A. Shalev, Jeremy Schwartzentruber, Fadi F. Hamdan, Orly Elpeleg, Renee-Myriam Boucher, Dianalee McKnight, Damian Labuda, Jacek Majewski, Jean-François Soucy, Hanna Mandel, Jean-Claude Décarie, Catalina Maftei, Christina Nassif, Jacques L. Michaud, Bernard Brais
Publikováno v:
The American Journal of Human Genetics. 97:744-753
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneou