Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome

Authors: Harriet Walker, Alison Foster, Trevor Cole, Andrea Jester

Source: JPRAS Open, Vol 25, Iss , Pp 83-87 (2020)

Subject Terms: Kosaki overgrowth syndrome, KOGS, Carpal tunnel syndrome, Paediatric carpal tunnel syndrome, Surgery, RD1-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352587820300292; https://doaj.org/toc/2352-5878

Access URL: https://doaj.org/article/da1ae6415eb14b46b9419705a61125f4

The evolving therapeutic landscape of genetic skeletal disorders

Authors: Ataf Hussain Sabir, Trevor Cole

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-20 (2019)

Subject Terms: Skeletal, Bone, Dysplasia, Rare, Genetic, Hereditary, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7c9a4fd4a0a44ea48b333635e5e0140a

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Authors: Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss

Source: Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)

Subject Terms: Genome sequencing, Next-generation sequencing, Complex structural variant, Nanopore, ARID1B, HNRNPU, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-018-0606-6; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/e563cd1c639d49d89247155d92c3c084

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors: Ana Osorio, Roger L Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Díez, Teresa Ramón Y Cajal, Irene Konstantopoulou, Cristina Martínez-Bouzas, Raquel Andrés Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, SWE-BRCA, Brita Arver, Johanna Rantala, Niklas Loman, Hans Ehrencrona, Olufunmilayo I Olopade, Mary S Beattie, Susan M Domchek, Katherine Nathanson, Timothy R Rebbeck, Banu K Arun, Beth Y Karlan, Christine Walsh, Jenny Lester, Esther M John, Alice S Whittemore, Mary B Daly, Melissa Southey, John Hopper, Mary B Terry, Saundra S Buys, Ramunas Janavicius, Cecilia M Dorfling, Elizabeth J van Rensburg, Linda Steele, Susan L Neuhausen, Yuan Chun Ding, Thomas V O Hansen, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Mar Infante, Belén Herráez, Leticia Thais Moreno, Jeffrey N Weitzel, Josef Herzog, Kisa Weeman, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Bernardo Bonanni, Frederique Mariette, Sara Volorio, Alessandra Viel, Liliana Varesco, Laura Papi, Laura Ottini, Maria Grazia Tibiletti, Paolo Radice, Drakoulis Yannoukakos, Judy Garber, Steve Ellis, Debra Frost, Radka Platte, Elena Fineberg, Gareth Evans, Fiona Lalloo, Louise Izatt, Ros Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Diana Eccles, Jackie Cook, Shirley Hodgson, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Mary Porteous, Lucy Side, Lisa Walker, Patrick Morrison, Alan Donaldson, John Kennedy, Claire Foo, Andrew K Godwin, Rita Katharina Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Bruce Poppe, Kathleen Claes, Marion Piedmonte, Kathy Tucker, Floor Backes, Gustavo Rodríguez, Wendy Brewster, Katie Wakeley, Thomas Rutherford, Trinidad Caldés, Heli Nevanlinna, Kristiina Aittomäki, Matti A Rookus, Theo A M van Os, Lizet van der Kolk, J L de Lange, Hanne E J Meijers-Heijboer, A H van der Hout, Christi J van Asperen, Encarna B Gómez Garcia, Nicoline Hoogerbrugge, J Margriet Collée, Carolien H M van Deurzen, Rob B van der Luijt, Peter Devilee, HEBON, Edith Olah, Conxi Lázaro, Alex Teulé, Mireia Menéndez, Anna Jakubowska, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Oskar Th Johannsson, Christine Maugard, Marco Montagna, Silvia Tognazzo, Manuel R Teixeira, Sue Healey, KConFab Investigators, Curtis Olswold, Lucia Guidugli, Noralane Lindor, Susan Slager, Csilla I Szabo, Joseph Vijai, Mark Robson, Noah Kauff, Liying Zhang, Rohini Rau-Murthy, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy-Kheng Tea, Andreas Berger, Catherine M Phelan, Mark H Greene, Phuong L Mai, Flavio Lejbkowicz, Irene Andrulis, Anna Marie Mulligan, Gord Glendon, Amanda Ewart Toland, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Mads Thomassen, Torben A Kruse, Uffe Birk Jensen, Eitan Friedman, Yael Laitman, Shani Paluch Shimon, Jacques Simard, Douglas F Easton, Kenneth Offit, Fergus J Couch, Georgia Chenevix-Trench, Antonis C Antoniou, Javier Benitez

Source: PLoS Genetics, Vol 10, Iss 4, p e1004256 (2014)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24698998/pdf/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/3bf5569574584b3ea0b4bbcfdb112f05

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Authors: Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Trevor Cole, R.P., Rahman, Nazneen

Source: In The American Journal of Human Genetics 2003 72(1):132-143

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Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Authors: Derek Lim, Sarah C. Bowdin, Louise Tee, Gail A. Kirby, Edward Blair, Alan Fryer, Wayne Lam, Christine Oley, Trevor Cole, Louise A. Brueton, Wolf Reik, Fiona Macdonald, Eamonn R. Maher

Source: Human Reproduction; Mar2009, Vol. 24 Issue 3, p741-741, 1p

Subject Terms: GROWTH disorders, REPRODUCTIVE technology, MOLECULAR genetics, MEDICAL genetics, GENETIC mutation, GENOMIC imprinting, JUVENILE diseases, GENETICS

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux.

Authors: Cynthia F. Bartels, Hülya Beükülmez, Pius Padayatti, David K. Rhee, Conny van Ravenswaaij-Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, Lihadh I. Al-Gazali, Sarina Kant, Trevor Cole, Jenny Morton, Valérie Cormier-Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert R. Mortier, Jules Leroy, Bernhard Zabel

Source: American Journal of Human Genetics. Jul2004, Vol. 75 Issue 1, p27-34. 8p.

Subjects: GENETIC mutation, PEPTIDES, DYSPLASIA, CELL transformation, PROTEINS, DNA

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