Otitis

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, J B Moeschler, J Ozmore, R Widmer, R Savarirayan, G Peters

Journal of Medical Genetics Jul 2009, 46 (7) 480-489; DOI: 10.1136/jmg.2008.065391
Mosaicism for FMR1 and FMR2 deletion: a new case
S Fengler, S Fuchs, R König, J Arnemann

Journal of Medical Genetics Mar 2002, 39 (3) 200-201; DOI: 10.1136/jmg.39.3.200
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
D Jeganathan, R Chodhari, M Meeks, O Færoe, D Smyth, K Nielsen, I Amirav, A S Luder, H Bisgaard, R M Gardiner, E M K Chung, H M Mitchison

Journal of Medical Genetics Mar 2004, 41 (3) 233-240; DOI: 10.1136/jmg.2003.014084
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Sylvain Blanchon, Marie Legendre, Bruno Copin, Philippe Duquesnoy, Guy Montantin, Esther Kott, Florence Dastot, Ludovic Jeanson, Marine Cachanado, Alexandra Rousseau, Jean François Papon, Nicole Beydon, Jacques Brouard, Bruno Crestani, Antoine Deschildre, Julie Désir, Hélène Dollfus, Bruno Leheup, Aline Tamalet, Caroline Thumerelle, Anne-Marie Vojtek, Denise Escalier, André Coste, Jacques de Blic, Annick Clément, Estelle Escudier, Serge Amselem

Journal of Medical Genetics Jun 2012, 49 (6) 410-416; DOI: 10.1136/jmedgenet-2012-100867
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
T Tsilchorozidou, F H Menko, F Lalloo, A Kidd, R De Silva, H Thomas, P Smith, A Malcolmson, J Dore, K Madan, A Brown, J G Yovos, M Tsaligopoulos, N Vogiatzis, ME Baser, A J Wallace, D G R Evans

Journal of Medical Genetics Jul 2004, 41 (7) 529-534; DOI: 10.1136/jmg.2003.016774
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance
C M Hall, N H Elcioglu, K D MacDermot, A C Offiah, R M Winter

Journal of Medical Genetics Sep 2002, 39 (9) 666-670; DOI: 10.1136/jmg.39.9.666
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, D Cosgrove, C C Morton, A Swaroop, M M Jablonski

Journal of Medical Genetics Nov 2003, 40 (11) e118; DOI: 10.1136/jmg.40.11.e118
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M AMIR, KHALIL I AL-TAWIL, MUNEEF M AL-HATHAL

Journal of Medical Genetics Sep 2000, 37 (9) e21; DOI: 10.1136/jmg.37.9.e21
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene
Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, Jing-Houng Wang

Journal of Medical Genetics Jul 2001, 38 (7) e23; DOI: 10.1136/jmg.38.7.e23
Achondroplasia and nail-patella syndrome: the compound phenotype
M J WRIGHT, M C AIN, M V CLOUGH, G A BELLUS, O HURKO, I MCINTOSH

Journal of Medical Genetics Sep 2000, 37 (9) e25; DOI: 10.1136/jmg.37.9.e25

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