Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jillian Nicholl"'
Autor:
Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to r
Externí odkaz:
https://doaj.org/article/4ff1c19df53e4efbbc6b1d8bf05fb8cc
Autor:
Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first repo
Externí odkaz:
https://doaj.org/article/2e569a6211be4e199c621cb18a236e89
Autor:
Lisa S. Kearns, Deepa A Taranath, Sandra E Staffieri, Angela J Chappell, Jillian Nicholl, James E. H. Smith, Emmanuelle Souzeau, Andrew Narita, Kathryn P. Burdon, James E. Elder, Tiger Zhou, Alex W. Hewitt, Jamie E Craig, Jonathan B Ruddle, David A. Mackey, Andrew Dubowsky, Shari Javadiyan, John Pater, Owen M. Siggs
Publikováno v:
Ophthalmology. 127:758-766
Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. We so
Autor:
Bettina E. Mucha, Marianne Till, Tobias Linden, Mary Ann Thomas, Carl Ernst, Philippe M. Campeau, Jessica L. Waxler, Sau Wai Cheung, Damien Sanlaville, Jozef Gecz, Lesley M McGregor, Sanjay M. Sisodiya, Gary G. Chen, Michael Harbord, Mary Kay Koenig, Renee Perrier, Jennelle C. Hodge, Rhamat B. Adejumo, Jillian Nicholl, Norbert F. Ajeawung, Emmanuelle Lemyre, Brian G. Skotko, Siddharth Banka, Sirinart Molidperee, Renee Myriam Boucher
Publikováno v:
Mucha, B E, Banka, S, Ajeawung, N F, Molidperee, S, Chen, G G, Koenig, M K, Adejumo, R B, Till, M, Harbord, M, Perrier, R, Lemyre, E, Boucher, R-M, Skotko, B G, Waxler, J L, Thomas, M A, Hodge, J C, Gecz, J, Nicholl, J, McGregor, L, Linden, T, Sisodiya, S M, Sanlaville, D, Cheung, S W, Ernst, C & Campeau, P M 2019, ' A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, no. 5, pp. 1058-1064 . https://doi.org/10.1038/s41436-018-0290-3
PURPOSE: Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknow
Autor:
Asbjørg Stray-Pedersen, Anne Ronan, Yunru Shao, Eric Haan, Katharina Steindl, Zöe Powis, Perla Thulin, Giuseppe Testa, Janneke H M Schuurs-Hoeijmakers, William J. Craigen, Raman Kumar, David Rodriguez-Buritica, Michele Gabriele, Laura S. Farach, Susanne Kjaergaard, Rolph Pfundt, Jillian Nicholl, Jozef Gecz, Petter Strømme, Stefan H. Lelieveld, Kenjiro Kosaki, Sally Ann Lynch, Kimberly M. Nugent, Willy M. Nillesen, Bregje W.M. van Bon, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Eirik Frengen, Lisenka E.L.M. Vissers, Scott D. McLean, Evelyn Douglas, Joris Andrieux, David A. Koolen, Anneke T. Vulto-van Silfhout, Han G. Brunner, Arie van Haeringen, Jenny Morton, Sophie Patrier, Anita Rauch, Christeen Ramane J. Pedurupillay, Pierre-Luc Germain, Peter J. Anderson, Christian Gilissen, Christian P. Schaaf, Alessandro Vitriolo, Jennifer Friedman, Toshiki Takenouchi, Pascal Chambon, Bert B.A. de Vries, Doriana Misceo, Pernille Mathiesen Tørring
Publikováno v:
American Journal of Human Genetics, 100(6), 907-925. Cell Press
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Contains fulltext : 174704.pdf (Publisher’s version ) (Open Access) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of g
Autor:
Pawel Stankiewicz, Claude Moraine, Astrid Grimme, Martine Raynaud, Jillian Nicholl, D. Hamlin, Mauricio R. Delgado, Linda Manwaring, H Van Bokhoven, Zhiyv Niu, Stefanie Weinert, J. Wynn, Jozef Gecz, Thomas J. Jentsch, Vanessa Suckow, Vera M. Kalscheuer, Hossein Najmabadi, Jackie Boyle, A. Sommer, Maureen Holvoet, J. M. Goehringer, Eric Haan, M. P. Pietryga, Luis Rohena, John Tolmie, Luciana Musante, Utz Fischer, Floor A. M. Duijkers, Wendy K. Chung, Friederike Hennig, Jan Maarten Cobben, Elizabeth E. Palmer, Tjitske Kleefstra, H Van Esch, B. M. Faux, Michael Field, Kimia Kahrizi, Deepa Sirsi, Melanie Leffler, T. Stuhlmann, Dorothy K. Grange, Jill A. Rosenfeld, Hans-Hilger Ropers, S. P. Lodh, Marie Shaw, Sailaja Golla, E. Bernardo, Shelagh Joss, Thomas D. Challman
Publikováno v:
Molecular Psychiatry, 23, 222-230
Molecular Psychiatry
Molecular psychiatry, 23(2), 222-230. Nature Publishing Group
Molecular psychiatry, Advance online publication
Molecular Psychiatry, 23, 2, pp. 222-230
Molecular Psychiatry
Molecular psychiatry, 23(2), 222-230. Nature Publishing Group
Molecular psychiatry, Advance online publication
Molecular Psychiatry, 23, 2, pp. 222-230
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals fr
Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline
Autor:
Song Gao, Julien Soubrier, Dylan A. Mordaunt, Janice M. Fletcher, Karin S. Kassahn, Lesley Rawlings, S. Yu, Jillian Nicholl
Publikováno v:
Pathology. 52:S108
Autor:
Bettina E. Mucha, Sanjay M. Sisodiya, Jessica L. Waxler, Jozef Gecz, Norbert F. Ajeawung, Carl Ernst, Tobias Linden, Jillian Nicholl, Rhamat B. Adejumo, Emmanuelle Lemyre, Philippe M. Campeau, Damien Sanlaville, Sau Wai Cheung, Siddharth Banka, Sirinart Molidperee, Renee Perrier, Michael Harbord, Renee Myriam Boucher, Brian G. Skotko, Mary Ann Thomas, Mary Kay Koenig, Marianne Till, Jennelle C. Hodge, Lesley M McGregor, Gary G. Chen
Publikováno v:
Mucha, BE, Banka, S, Ajeawung, NF, Molidperee, S, Chen, GG, Koenig, MK, Adejumo, RB, Till, M, Harbord, M, Perrier, R, Lemyre, E, Boucher, RM, Skotko, BG & Campeau, PM 2019, ' Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-018-0413-x
Autor:
Martine Raynaud, Raman Kumar, Hilde Van Esch, C Jensen, Bartlomiej Budny, Magdalena Badura-Stronka, Michael I. Love, Guy Froyen, Lachlan A. Jolly, Bregje W.M. van Bon, Jill A. Rosenfeld, Lina Basel-Vanagaite, M Bienek, Alison Gardner, Jillian Nicholl, Sau Wai Cheung, Elizabeth Thompson, Jozef Gecz, Anne Baxendale, Anna Latos-Bielenska, C Tan, Joshua A. Woenig, Stefan A. Haas, Mark A. Corbett, Marzena Wisniewska, Maureen Holvoet, Evelyn Douglas, Eric Haan, Michael Field, Kathryn Friend, Melanie Leffler, Jacqueline R. Batanian, Hao Hu, Pawel Stankiewicz, Reinhard Ullmann, Vera M. Kalscheuer
Publikováno v:
Human Molecular Genetics, 24, 7171-81
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Genetics
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Genetics
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disab
Autor:
Andres Moreno-De-Luca, Christa Lese Martin, Chloe Shard, Gai L McMichael, Jozef Gecz, Evan E. Eichler, Alastair H. MacLennan, Santhosh Girirajan, Lam Son Nguyen, Jillian Nicholl, Eric Haan, Catherine S. Gibson
Publikováno v:
European Journal of Human Genetics. 22:40-45
Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using