Neurology

Refining the phenotype of common mutations in Rett syndrome
L Colvin, H Leonard, N de Klerk, M Davis, L Weaving, S Williamson, J Christodoulou

Journal of Medical Genetics Jan 2004, 41 (1) 25-30; DOI: 10.1136/jmg.2003.011130
Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth
J C S Dean, H Hailey, S J Moore, D J Lloyd, P D Turnpenny, J Little

Journal of Medical Genetics Apr 2002, 39 (4) 251-259; DOI: 10.1136/jmg.39.4.251
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
P Aubourg, M Krahn, R Bernard, K Nguyen, O Forzano, I Boccaccio, V Delague, A De Sandre-Giovannoli, J Pouget, D Depétris, M-G Mattei, N Philip, N Lévy

Journal of Medical Genetics Mar 2005, 42 (3) 253-259; DOI: 10.1136/jmg.2004.021899
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations
Saba Sharif, Meena Upadhyaya, Rosalie Ferner, Elisa Majounie, Andrew Shenton, Michael Baser, Nalin Thakker, D Gareth Evans

Journal of Medical Genetics Apr 2011, 48 (4) 256-260; DOI: 10.1136/jmg.2010.081760
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C Carey, Agatino Battaglia

Journal of Medical Genetics Apr 2016, 53 (4) 256-263; DOI: 10.1136/jmedgenet-2015-103626
Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci
J C MacMillan, J Voisey, S C Healey, N G Martin

Journal of Medical Genetics Mar 1999, 36 (3) 258-259; DOI: 10.1136/jmg.36.3.258
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
T Tucker, C Schnabel, M Hartmann, R E Friedrich, I Frieling, H-P Kruse, V-F Mautner, J M Friedman

Journal of Medical Genetics Apr 2009, 46 (4) 259-265; DOI: 10.1136/jmg.2008.061895
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
Paola Ungaro, Susan L Christian, Judy A Fantes, Apiwat Mutirangura, Susan Black, James Reynolds, Sue Malcolm, William B Dobyns, David H Ledbetter

Journal of Medical Genetics Jan 2001, 38 (1) 26-34; DOI: 10.1136/jmg.38.1.26
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, N Lévy

Journal of Medical Genetics Mar 2005, 42 (3) 260-265; DOI: 10.1136/jmg.2004.024364
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
Miriam J Smith, Jenny E Higgs, Naomi L Bowers, Dorothy Halliday, Joan Paterson, James Gillespie, Susan M Huson, Simon R Freeman, Simon Lloyd, Scott A Rutherford, Andrew T King, Andrew J Wallace, Richard T Ramsden, D Gareth R Evans

Journal of Medical Genetics Apr 2011, 48 (4) 261-265; DOI: 10.1136/jmg.2010.085241

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