Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Jan Liebelt"'
Autor:
Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska‐Ziętkiewicz, Jasper J. Saris, Nicolas Charlet‐Berguerand, Federico Zara, Pasquale Striano, Amélie Piton
Publikováno v:
Human Mutation, 43(9), 1299-1313. Wiley-Liss Inc.
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have b
Autor:
Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF)
Autor:
Alison D, Archibald, Belinda J, McClaren, Jade, Caruana, Erin, Tutty, Emily A, King, Jane L, Halliday, Stephanie, Best, Anaita, Kanga-Parabia, Bruce H, Bennetts, Corrina C, Cliffe, Evanthia O, Madelli, Gladys, Ho, Jan, Liebelt, Janet C, Long, Jeffrey, Braithwaite, Jillian, Kennedy, John, Massie, Jon D, Emery, Julie, McGaughran, Justine E, Marum, Kirsten, Boggs, Kristine, Barlow-Stewart, Leslie, Burnett, Lisa, Dive, Lucinda, Freeman, Mark R, Davis, Martin J, Downes, Mathew, Wallis, Monica M, Ferrie, Nicholas, Pachter, Paul A, Scuffham, Rachael, Casella, Richard J N, Allcock, Royston, Ong, Samantha, Edwards, Sarah, Righetti, Sebastian, Lunke, Sharon, Lewis, Susan P, Walker, Tiffany F, Boughtwood, Tristan, Hardy, Ainsley J, Newson, Edwin P, Kirk, Nigel G, Laing, Martin B, Delatycki, The Mackenzie's Mission Study Team
Publikováno v:
Journal of personalized medicine. 12(11)
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be of
Autor:
Emmanuelle Souzeau, Shannon Le Blanc, Jamie E Craig, Owen M. Siggs, Francesca Pasutto, Lesley M McGregor, Luis A. Pérez-Jurado, Jan Liebelt, Christopher P. Barnett, Lachlan S.W. Knight
Publikováno v:
American Journal of Medical Genetics Part A. 185:434-439
Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have
Autor:
Hamish Scott, Alicia Byrne, Peer Arts, Thuong Ha, Karin Kassahn, Lynn Pais, Anne O’Donnell-Luria, Milena Babic, Mahalia Frank, Jinghhua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, Genomic Autopsy Study Research Network, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jillian Lipsett, Nick Manton, T Khong, Lynette Moore, Jan Liebelt, Andreas Schreiber, Sarah King-Smith, Tristan Hardy, Matilda Jackson, Christopher Barnett
Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6a5367579d77a119766f75ac5540e62
https://doi.org/10.21203/rs.3.rs-1215526/v1
https://doi.org/10.21203/rs.3.rs-1215526/v1
Autor:
Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
Publikováno v:
Human Mutation. 41:299-315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o
Autor:
Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
Publikováno v:
Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84
Autor:
Emmanuelle, Souzeau, Owen M, Siggs, Francesca, Pasutto, Lachlan S W, Knight, Luis A, Perez-Jurado, Lesley, McGregor, Shannon, Le Blanc, Christopher P, Barnett, Jan, Liebelt, Jamie E, Craig
Publikováno v:
American Journal of Medical Genetics. Part a
Axenfeld‐Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes hav
Autor:
Royston Ong, Edwin P. Kirk, Kirsten Boggs, Meredith Wilson, Robyn V. Jamieson, Alison D Archibald, Alison Colley, David J. Amor, Nigel G. Laing, Alan Ma, Jan Liebelt, Nicholas Pachter, Madhura Bakshi, Julie McGaughran, Rachael Casella, Ainsley J Newson, Mark M. Davis, Tristan Hardy, Sulekha Rajagopalan, Sarah Righetti, Jade Caruana, Anja Ravine, Ben Kamien, Tony Roscioli, Clara W. T. Chung, Samantha Edwards, Martin B. Delatycki
Publikováno v:
Eur J Hum Genet
Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in “Mackenzie’s Mission”, a resear
Autor:
Hamish S. Scott, Ravi Savarirayan, Alicia B. Byrne, Milena Babic, Kazuyuki Sugahara, Jan Liebelt, Lynette Moore, Gen Nishimura, Hatice Mutlu-Albayrak, Shuji Mizumoto, Shuhei Yamada, Sarah L King-Smith, Peer Arts, Christopher P. Barnett, Andreas W. Schreiber, Patrick Yap, Jinghua Feng
Publikováno v:
Journal of Medical Genetics
BackgroundPseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a ‘dysplasia with multiple joint dislocations’; however, the molecular aetiolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3060e1cde1815b5019faeea0309f7354
https://hdl.handle.net/11541.2/141568
https://hdl.handle.net/11541.2/141568