Rheumatology

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Antonio Alcina, Maria Fedetz, Óscar Fernández, Albert Saiz, Guillermo Izquierdo, Miguel Lucas, Laura Leyva, Juan-Antonio García-León, María del Mar Abad-Grau, Iraide Alloza, Alfredo Antigüedad, María J Garcia-Barcina, Koen Vandenbroeck, Jezabel Varadé, Belén de la Hera, Rafael Arroyo, Manuel Comabella, Xavier Montalban, Natalia Petit-Marty, Arcadi Navarro, David Otaegui, Javier Olascoaga, Yolanda Blanco, Elena Urcelay, Fuencisla Matesanz

Journal of Medical Genetics Jan 2013, 50 (1) 25-33; DOI: 10.1136/jmedgenet-2012-101085
Submicroscopic chromosomal imbalances in idiopathic Silver–Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
S Spengler, N Schönherr, G Binder, H A Wollmann, S Fricke-Otto, R Mühlenberg, B Denecke, M Baudis, T Eggermann

Journal of Medical Genetics May 2010, 47 (5) 356-360; DOI: 10.1136/jmg.2009.070052
The revised Ghent nosology for the Marfan syndrome
Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M Milewicz, Reed E Pyeritz, Paul D Sponseller, Paul Wordsworth, Anne M De Paepe

Journal of Medical Genetics Jul 2010, 47 (7) 476-485; DOI: 10.1136/jmg.2009.072785
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard, Gwenaëlle Collod-Beroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Catherine Boileau

Journal of Medical Genetics Feb 2017, 54 (2) 100-103; DOI: 10.1136/jmedgenet-2016-103996
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
Frank Rauch, Pierre Moffatt, Moira Cheung, Peter Roughley, Liljana Lalic, Allan M Lund, Norman Ramirez, Somayyeh Fahiminiya, Jacek Majewski, Francis H Glorieux

Journal of Medical Genetics Jan 2013, 50 (1) 21-24; DOI: 10.1136/jmedgenet-2012-101307
Germline RRAS2 mutations are not associated with Noonan syndrome
John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz

Journal of Medical Genetics Nov 2016, 53 (11) 728; DOI: 10.1136/jmedgenet-2016-103889
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep Tümer, Bart Loeys, Stanislas Lyonnet, Laurence Faivre

Journal of Medical Genetics Jan 2014, 51 (1) 21-27; DOI: 10.1136/jmedgenet-2013-101939
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier

Journal of Medical Genetics Apr 2007, 44 (4) 264-268; DOI: 10.1136/jmg.2006.047860
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C Malaquias, Mayana Zatz, Olaf Bodamer, Jacek Majewski, Alexander A L Jorge, Alexandre C Pereira, Chong Ae Kim, Maria Rita Passos-Bueno, Débora Romeo Bertola

Journal of Medical Genetics Jun 2015, 52 (6) 413-421; DOI: 10.1136/jmedgenet-2015-103018
The molecular genetics of Marfan syndrome and related microfibrillopathies
Peter N Robinson, Maurice Godfrey

Journal of Medical Genetics Jan 2000, 37 (1) 9-25; DOI: 10.1136/jmg.37.1.9

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