The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients von 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

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 von 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

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Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing von McGillivray, George, Rosenfeld, Jill A, McKinlay Gardner, R. J., Gillam, Lynn H.

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Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy von 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.

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Molecular consequences of dominant Bethlem myopathy collagen VI mutations von 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.

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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20 von Knight, Melanie A., McKinlay Gardner, R. J., Bahlo, Melanie, Matsuura, Tohru, Dixon, Judith A., Forrest, Susan M., Storey, Elsdon

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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families von 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

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Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia von 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

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No evidence of RET germline mutations in familial pituitary adenoma von 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

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Cochlear Implants for DFNA17 Deafness von Hildebrand, Michael S., de Silva, Michelle G., Gardner, R. J. McKinlay, Rose, Elizabeth, de Graaf, Carolyn A., Bahlo, Melanie, Dahl, Hans-Henrik M.

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Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation von Gardner, R. J. McKinlay, Prosser, Debra O., Love, Jennifer M., Love, Donald R., Brookes, Clare

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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome von Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, R J McKinlay, Francke, Uta

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Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters von Singh, Rita, McKinlay Gardner, R. J., Crossland, Kathryn M., Scheffer, Ingrid E., Berkovic, Samuel F.

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans von 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

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A novel splice site mutation in EYA4 causes DFNA10 hearing loss von Hildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie, Dahl, Hans-Henrik M.

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Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations von Franz, Elizabeth A, Chiaroni-Clarke, Rachel, Woodrow, Stephanie, Glendining, Kelly A, Jasoni, Christine L, Robertson, Stephen P, Gardner, R.J. McKinlay, Markie, David

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High frequency hearing loss correlated with mutations in the GJB2 gene von WILCOX, S. A, SAUNDERS, K, CONE-WESSON, B, WILLIAMSON, R, DAHL, H.-H. M, OSBORN, A. H, ARNOLD, A, WUNDERLICH, J, KELLY, T, COLLINS, V, WILCOX, L. J, GARDNER, R. J. M, KAMARINOS, M

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Periventricular Heterotopia in Common Microdeletion Syndromes von van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.

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A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20 von Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.

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Spinocerebellar ataxia type 15 von Gardner, R J McKinlay, Knight, Melanie A, Hara, Kenju, Tsuji, Shoji, Forrest, Susan M, Storey, Elsdon

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