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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, Flore ; Sherr, Elliott H ; Beckmann, Noam D ; Hanson, Ellen ; Maillard, Anne M ; Hippolyte, Loyse ; Macé, Aurélien ; Ferrari, Carina ; Kutalik, Zoltán ; Andrieux, Joris ; Aylward, Elizabeth ; Barker, Mandy ; Bernier, Raphael ; Bouquillon, Sonia ; Conus, Philippe ; Delobel, Bruno ; Faucett, W Andrew ; Goin-Kochel, Robin P ; Grant, Ellen ; Harewood, Louise ; Hunter, Jill V ; Lebon, Sébastien ; Ledbetter, David H ; Martin, Christa Lese ; Männik, Katrin ; Martinet, Danielle ; Mukherjee, Pratik ; Ramocki, Melissa B ; Spence, Sarah J ; Steinman, Kyle J ; Tjernagel, Jennifer ; Spiro, John E ; Reymond, Alexandre ; Beckmann, Jacques S ; Chung, Wendy K ; Jacquemont, Sébastien ;Addor, Marie Claude ; Arveiler, Benoit ; Belfiore, Marco ; Bena, Frédérique ; Bernardini, Laura ; Blanchet, Patricia ; Bonneau, Dominique ; Boute, Odile ; Callier, Patrick ; Campion, Dominique ; Chiesa, Jean ; Cordier, Marie Pierre ; Cuisset, Jean Marie ; David, Albert ; de Leeuw, Nicole ; de Vries, Bert ; Didelot, Gérard ; Doco-Fenzy, Martine ; Bedu, Bénédicte Duban ; Dubourg, Christèle ; Dupuis-Girod, Sophie ; Fagerberg, Christina R. ; Faivre, Laurence ; Fellmann, Florence ; Fernandez, Bridget A. ; Fisher, Richard ; Flori, Elisabeth ; Goldenberg, Alice ; Heron, Delphine ; Holder, Muriel ; Hoyer, Juliane ; Isidor, Bertrand ; Jaillard, Sylvie ; Jonveaux, Philippe ; Joriot, Sylvie ; Journel, Hubert ; Kooy, Frank ; Le Caignec, Cédric ; Leheup, Bruno ; Lemaitre, Marie-Pierre ; Lewis, Suzanne ; Malan, Valérie ; Mathieu-Dramard, Michèle ; Metspalu, Andres ; Morice-Picard, Fanny ; Mucciolo, Mafalda ; Oiglane-Shlik, Eve ; Ounap, Katrin ; Pasquier, Laurent ; Petit, Florence ; Philippe, Anne ; Plessis, Ghislaine ; Prieur, Fabienne ; Puechberty, Jacques ; Rajcan-Separovic, Evica ; Rauch, Anita ; Renieri, Alessandra ; Rieubland, Claudine ; Rooryck, Caroline ; Rötzer, Katharina Magdalena ; Ruiter, Mariken ; Sanlaville, Damien ; Selmoni, Stéphanie ; Shen, Yiping ; Siffredi, Vanessa ; Thonney, Jacques ; Vallée, Louis ; van Binsbergen, Ellen ; Van Der Aa, Nathalie ; van Haelst, Mieke M. ; Vigneron, Jacqueline ; Vincent-Delorme, Catherine ; Vittoria, Disciglio ; Vulto-van Silfhout, Anneke T ; Witwicki, Robert M ; Zwolinski, Simon A. ; Bowe, Alexandra ; Beaudet, Arthur L ; Brewton, Christie M ; Chu, Zili ; Dempsey, Allison G ; Evans, Yolanda L ; Garza, Silvia ; Kanne, Stephen M ; Laakman, Anna L ; Lasala, Morgan W ; Llorens, Ashlie V ; Marzano, Gabriela ; Moss, Timothy J ; Nowell, Kerri P ; Proud, Monica B ; Chen, Qixuan ; Vaughan, Roger ; Berman, Jeffrey ; Blaskey, Lisa ; Hines, Katherine ; Kessler, Sudha ; Khan, Sarah Y ; Qasmieh, Saba ; Bibb, Audrey Lynn ; Paal, Andrea M ; Page, Patricia Z ; Smith-Packard, Bethanny ; Buckner, Randy ; Burko, Jordan ; Cavanagh, Alyss Lian ; Cerban, Bettina ; Snow, Anne V ; Snyder, Leeanne Green ; Keehn, Rebecca Mcnally ; Miller, David T ; Miller, Fiona K ; Olson, Jennifer Endre ; Triantafallou, Christina ; Visyak, Nicole ; Atwell, Constance ; Benedetti, Marta ; Fischbach, Gerald D ; Greenup, Marion ; Packer, Alan ; Bukshpun, Polina ; Cheong, Maxwell ; Dale, Corby ; Gobuty, Sarah E ; Hinkley, Leighton ; Jeremy, Rita J ; Lee, Hana ; Luks, Tracy L ; Marco, Elysa J ; Martin, Alastair J ; Mcgovern, Kathleen E ; Nagarajan, Srikantan S ; Owen, Julia ; Paul, Brianna M ; Pojman, Nicholas J ; Sinha, Tuhin ; Swarnakar, Vivek ; Wakahiro, Mari ; Alupay, Hanalore ; Aaronson, Benjamin ; Ackerman, Sean ; Ankenman, Katy ; Elgin, Jenna ; Gerdts, Jennifer ; Johnson, Kelly ; Reilly, Beau ; Shaw, Dennis ; Stevens, Arianne ; Ward, Tracey ; Wenegrat, Julia ; Roberts, Timothy Pl

Journal of Medical Genetics, 10 October 2012, Vol.49(10), p.660 [Peer Reviewed Journal]

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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Kumar, Ravinesh A ; Sudi, Jyotsna ; Babatz, Timothy D ; Brune, Camille W ; Oswald, Donald ; Yen, Mayon ; Nowak, Norma J ; Cook, Edwin H ; Christian, Susan L ; Dobyns, William B

Journal of Medical Genetics, 2010, Vol.47(2), p.81-90 [Peer Reviewed Journal]

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A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

Nishimura, A L ; Mitne-Neto, M ; Silva, H C A ; Oliveira, J R M ; Vainzof, M ; Zatz, M

Journal of Medical Genetics, 1 April 2004, Vol.41(4), p.315 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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A specific mutation in TBL1XR1 causes Pierpont syndrome

Heinen, Charlotte A ; Jongejan, Aldo ; Watson, Peter J ; Redeker, Bert ; Boelen, Anita ; Boudzovitch-Surovtseva, Olga ; Forzano, Francesca ; Hordijk, Roel ; Kelley, Richard ; Olney, Ann H ; Pierpont, Mary Ella ; Schaefer, G Bradley ; Stewart, Fiona ; Van Trotsenburg, A S Paul ; Fliers, Eric ; Schwabe, John W R ; Hennekam, Raoul C

Journal of Medical Genetics, 2016, Vol.53(5), p.330-337 [Peer Reviewed Journal]

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A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 ( FACL4 ) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Longo, I ; Frints, S G M ; Fryns, J-P ; Meloni, I ; Pescucci, C ; Ariani, F ; Borghgraef, M ; Raynaud, M ; Marynen, P ; Schwartz, C ; Renieri, A ; Froyen, G

Journal of Medical Genetics, 1 January 2003, Vol.40(1), p.11 [Peer Reviewed Journal]

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Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length

Kehoe, Patrick ; Krawczak, Michael ; Harper, Peter S ; Owen, Michael J ; Jones, A Lesley

Journal of Medical Genetics, 1 February 1999, Vol.36(2), p.108 [Peer Reviewed Journal]

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7
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An investigation of ACE as a risk factor for dementia and cognitive decline in the general population

Yip, A G ; Brayne, C ; Easton, D ; Rubinsztein, D C

Journal of Medical Genetics, 1 June 2002, Vol.39(6), p.403 [Peer Reviewed Journal]

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Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population

Yip, A G ; Brayne, C ; Easton, D ; Rubinsztein, D C

Journal of Medical Genetics, 1 September 2002, Vol.39(9), p.639 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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9
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Associations between Plasma Glucose and DSM-III-R Cluster B Personality Traits in Psychiatric Outpatients

Svanborg, Pär ; Mattila-Evenden, Marja ; Gustavsson, Petter J ; Uvnäs-Moberg, Kerstin ; Åsberg, Marie

Neuropsychobiology, January 2000, Vol.41(2), pp.79-87 [Peer Reviewed Journal]

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10
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Behavioural complaints in participants who underwent predictive testing for Huntington’s disease

Witjes-Ané, M-N W ; Zwinderman, A H ; Tibben, A ; van Ommen, G-J B ; Roos, R A C

Journal of Medical Genetics, 1 November 2002, Vol.39(11), p.857 [Peer Reviewed Journal]

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11
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Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland

Mcilroy, S P ; Crawford, V L S ; Dynan, K B ; Mcgleenon, B M ; Vahidassr, M D ; Lawson, J T ; Passmore, A P

Journal of Medical Genetics, 1 March 2000, Vol.37(3), p.182 [Peer Reviewed Journal]

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12
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Characterisation and genetic mapping of a new X linked deafness syndrome

Martin, Donna M ; Probst, Frank J ; Camper, Sally A ; Petty, Elizabeth M

Journal of Medical Genetics, 1 November 2000, Vol.37(11), p.836 [Peer Reviewed Journal]

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13
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Detection of aneuploidies by paralogous sequence quantification

Deutsch, S ; Choudhury, U ; Merla, G ; Howald, C ; Sylvan, A ; Antonarakis, S E

Journal of Medical Genetics, 9 December 2004, Vol.41(12), p.908 [Peer Reviewed Journal]

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14
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Dipeptidyl carboxypeptidase 1 ( DCP1 ) and butyrylcholinesterase ( BCHE ) gene interactions with the apolipoprotein E ε4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology

Mattila, Kari M ; Rinne, Juha O ; Röyttä, Matias ; Laippala, Pekka ; Pietilä, Timo ; Kalimo, Hannu ; Koivula, Timo ; Frey, Harry ; Lehtimäki, Terho

Journal of Medical Genetics, 1 October 2000, Vol.37(10), p.766 [Peer Reviewed Journal]

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Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation

Kudo, S ; Nomura, Y ; Segawa, M ; Fujita, N ; Nakao, M ; Hammer, S ; Schanen, C ; Terai, I ; Tamura, M

Journal of Medical Genetics, 1 February 2002, Vol.39(2), p.132 [Peer Reviewed Journal]

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Genetic association of an LBP-1c / CP2 / LSF gene polymorphism with late onset Alzheimer's disease

Taylor, Alison E ; Yip, Agustin ; Brayne, Carol ; Easton, Douglas ; Evans, John Grimley ; Xuereb, John ; Cairns, Nigel ; Esiri, Margaret M ; Rubinsztein, David C

Journal of Medical Genetics, 1 April 2001, Vol.38(4), p.232 [Peer Reviewed Journal]

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17
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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus ( EPM2B ) on 6p22

Chan, E M ; Bulman, D E ; Paterson, A D ; Turnbull, J ; Andermann, E ; Andermann, F ; Rouleau, G A ; Delgado-Escueta, A V ; Scherer, S W ; Minassian, B A

Journal of Medical Genetics, 5 September 2003, Vol.40(9), p.671 [Peer Reviewed Journal]

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18
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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Hampshire, Daniel J ; Roberts, Emma ; Crow, Yanick ; Bond, Jacquelyn ; Mubaidin, Ammar ; Wriekat, Abdul-Latif ; Al-Din, Amir ; Woods, C Geoffrey

Journal of Medical Genetics, 1 October 2001, Vol.38(10), p.680 [Peer Reviewed Journal]

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19
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Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA Ser(UCN) gene

Del Castillo, F J ; Villamar, M ; Moreno-Pelayo, M A ; Almela, J J ; Morera, C ; Adiego, I ; Moreno, F ; Del Castillo, I

Journal of Medical Genetics, 1 December 2002, Vol.39(12), p.e82 [Peer Reviewed Journal]

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No evidence of an association between the T16189C mtDNA variant and late onset dementia

Gibson, A M ; Edwardson, J A ; Turnbull, D M ; Mckeith, I G ; Morris, C M ; Chinnery, P F

Journal of Medical Genetics, 16 January 2004, Vol.41(1), p.e7 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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