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Prognosis

  • Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
    Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
    Journal of Medical Genetics Jan 2023, 60 (1) 65-73; DOI: 10.1136/jmedgenet-2021-108006
  • Adult phenotype of KCNQ2 encephalopathy
    Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen
    Journal of Medical Genetics Jun 2022, 59 (6) 528-535; DOI: 10.1136/jmedgenet-2020-107449
  • Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients
    Xiang Peng, Jinchao Chen, Jiangyi Wang, Shuanghe Peng, Shengjie Liu, Kaifang Ma, Jingcheng Zhou, Baoan Hong, Bowen Zhou, Jiufeng Zhang, Lin Cai, Kan Gong
    Journal of Medical Genetics Jun 2019, 56 (6) 380-387; DOI: 10.1136/jmedgenet-2018-105567
  • The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
    Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland
    Journal of Medical Genetics Nov 2016, 53 (11) 768-775; DOI: 10.1136/jmedgenet-2016-103910
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
    Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
    Journal of Medical Genetics Sep 2016, 53 (9) 634-641; DOI: 10.1136/jmedgenet-2015-103576
  • Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, S Grünewald, I Anselm, H Azzouz, D Bratkovic, A de Brouwer, B Hamel, T Kleefstra, H Yntema, J Campistol, M A Vilaseca, D Cheillan, M D’Hooghe, L Diogo, P Garcia, C Valongo, M Fonseca, S Frints, B Wilcken, S von der Haar, H E Meijers-Heijboer, F Hofstede, D Johnson, S G Kant, L Lion-Francois, G Pitelet, N Longo, J A Maat-Kievit, J P Monteiro, A Munnich, A C Muntau, M C Nassogne, H Osaka, K Ounap, J M Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, C E Schwartz, S Schwenger, G Soares, Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, M M C Wamelink, P J W Pouwels, A Errami, M S van der Knaap, C Jakobs, G M Mancini, G S Salomons
    Journal of Medical Genetics Jul 2013, 50 (7) 463-472; DOI: 10.1136/jmedgenet-2013-101658