The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
Nguyen, Ngoc Minh Phuong, Khawajkie, Yassemine, Mechtouf, Nawel, Rezaei, Maryam, Breguet, Magali, Kurvinen, Elvira, Jagadeesh, Sujatha, Solmaz, Asli Ece, Aguinaga, Monica, Hemida, Reda, Harma, Mehmet Ibrahim, Rittore, Cécile, Rahimi, Kurosh, Arseneau, Jocelyne, Hovanes, Karine, Clisham, Ronald, Lenzi, Tiffanee, Scurry, Bonnie, Addor, Marie-Claude, Bagga, Rashmi, Nendaz, Genevieve Girardet, Finci, Vildana, Poke, Gemma, Grimes, Leslie, Gregersen, Nerine, York, Kayla, Bolze, Pierre-Adrien, Patel, Chirag, Mozdarani, Hossein, Puechberty, Jacques, Scotchie, Jessica, Fardaei, Majid, Harma, Muge, Gardner, R. J. McKinlay, Sahoo, Trilochan, Dudding-Byth, Tracy, Srinivasan, Radhika, Sauthier, Philippe, Slim, Rima
Published in Modern pathology (01.07.2018)
Published in Modern pathology (01.07.2018)
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Journal Article
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Jacoupy, Maxime, Tankard, Rick M., Ewenczyk, Claire, Davies, Kayli C., Lino‐Coulon, Patricia, Colace, Claire, Rafehi, Haloom, Auger, Nicolas, Ansell, Brendan R. E., Stelt, Ivo, Howell, Katherine B., Coutelier, Marie, Amor, David J., Mundwiller, Emeline, Guillot‐Noël, Lena, Storey, Elsdon, Gardner, R. J. McKinlay, Wallis, Mathew J., Brusco, Alfredo, Corti, Olga, Rötig, Agnès, Leventer, Richard J., Brice, Alexis, Delatycki, Martin B., Stevanin, Giovanni, Lockhart, Paul J., Durr, Alexandra
Published in Annals of neurology (01.07.2022)
Published in Annals of neurology (01.07.2022)
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Journal Article
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
McGillivray, George, Rosenfeld, Jill A, McKinlay Gardner, R. J., Gillam, Lynn H.
Published in Prenatal diagnosis (01.04.2012)
Published in Prenatal diagnosis (01.04.2012)
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Journal Article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, McKinlay Gardner, R J, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
Published in Orphanet journal of rare diseases (09.06.2011)
Published in Orphanet journal of rare diseases (09.06.2011)
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Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15
Ganesamoorthy, Devika, Bruno, Damien L, Schoumans, Jacqueline, Storey, Elsdon, Delatycki, Martin B, Zhu, Danqing, Wei, Morgan K, Nicholson, Garth A, McKinlay Gardner, R.J, Slater, Howard R
Published in Clinical chemistry (Baltimore, Md.) (01.07.2009)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2009)
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Journal Article
Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy
Gardner, R. J. McKinlay, Crozier, Ian G., Binfield, Alex L., Love, Donald R., Lehnert, Klaus, Gibson, Kate, Lintott, Caroline J., Snell, Russell G., Jacobsen, Jessie C., Jones, Peter P., Waddell‐Smith, Kathryn E., Kennedy, Martin A., Skinner, Jonathan R.
Published in Molecular genetics & genomic medicine (01.01.2019)
Published in Molecular genetics & genomic medicine (01.01.2019)
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Journal Article
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
Baker, Naomi L., Mörgelin, Matthias, Pace, Rishika A., Peat, Rachel A., Adams, Naomi E., Gardner, R. J. McKinlay, Rowland, Lewis P., Miller, Geoffrey, De Jonghe, Peter, Ceulemans, Berten, Hannibal, Mark C., Edwards, Matthew, Thompson, Elizabeth M., Jacobson, Richard, Quinlivan, Ros C. M., Aftimos, Salim, Kornberg, Andrew J., North, Kathryn N., Bateman, John F., Lamandé, Shireen R.
Published in Annals of neurology (01.10.2007)
Published in Annals of neurology (01.10.2007)
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Journal Article
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
Knight, Melanie A., McKinlay Gardner, R. J., Bahlo, Melanie, Matsuura, Tohru, Dixon, Judith A., Forrest, Susan M., Storey, Elsdon
Published in Brain (London, England : 1878) (01.05.2004)
Published in Brain (London, England : 1878) (01.05.2004)
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Journal Article
Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia
Shore, Eileen M, Ahn, Jaimo, de Beur, Suzanne Jan, Li, Ming, Xu, Meiqi, Gardner, R.J. McKinlay, Zasloff, Michael A, Whyte, Michael P, Levine, Michael A, Kaplan, Frederick S
Published in The New England journal of medicine (10.01.2002)
Published in The New England journal of medicine (10.01.2002)
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Journal Article
Cochlear implants for DFNA17 deafness
Hildebrand, Michael S, de Silva, Michelle G, Gardner, R J McKinlay, Rose, Elizabeth, de Graaf, Carolyn A, Bahlo, Melanie, Dahl, Hans-Henrik M
Published in The Laryngoscope (01.12.2006)
Published in The Laryngoscope (01.12.2006)
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Journal Article
No evidence of RET germline mutations in familial pituitary adenoma
Heliövaara, Elina, Tuupanen, Sari, Ahlsten, Manuel, Hodgson, Shirley, de Menis, Ernesto, Kuismin, Outi, Izatt, Louise, McKinlay Gardner, R J, Gundogdu, Sadi, Lucassen, Anneke, Arola, Johanna, Tuomisto, Anne, Mäkinen, Markus, Karhu, Auli, Aaltonen, Lauri A
Published in Journal of molecular endocrinology (01.02.2011)
Published in Journal of molecular endocrinology (01.02.2011)
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Journal Article
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, R J McKinlay, Francke, Uta
Published in BMC medical genetics (06.05.2005)
Published in BMC medical genetics (06.05.2005)
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Journal Article
Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters
Singh, Rita, McKinlay Gardner, R. J., Crossland, Kathryn M., Scheffer, Ingrid E., Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.02.2002)
Published in Epilepsia (Copenhagen) (01.02.2002)
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Journal Article
A novel splice site mutation in EYA4 causes DFNA10 hearing loss
Hildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie, Dahl, Hans-Henrik M.
Published in American journal of medical genetics. Part A (15.07.2007)
Published in American journal of medical genetics. Part A (15.07.2007)
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Journal Article
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R J McKinlay, Forrest, Susan M, Fisher, Elizabeth M C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Published in PLoS genetics (01.06.2007)
Published in PLoS genetics (01.06.2007)
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Journal Article
Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations
Franz, Elizabeth A, Chiaroni-Clarke, Rachel, Woodrow, Stephanie, Glendining, Kelly A, Jasoni, Christine L, Robertson, Stephen P, Gardner, R.J. McKinlay, Markie, David
Published in Journal of the neurological sciences (15.04.2015)
Published in Journal of the neurological sciences (15.04.2015)
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Journal Article
Spinocerebellar ataxia type 15
Gardner, R J McKinlay, Knight, Melanie A, Hara, Kenju, Tsuji, Shoji, Forrest, Susan M, Storey, Elsdon
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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Journal Article
Spinocerebellar ataxia type 20
Storey, Elsdon, Knight, Melanie A, Forrest, Susan M, Gardner, R J McKinlay
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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