Otitis

Citations 1-10 of 12 total displayed.

Letters to JMG
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
J. Med. Genet. 2009 46: 480 -489; published online before print as 10.1136/jmg.2008.065391 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, L Larizza
J. Med. Genet. 2004; 41: e90. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2004; 41: 529-534. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2004; 41: 233-240. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
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
J. Med. Genet. 2003; 40: e118. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2002; 39: 666-670. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Mosaicism for FMR1 and FMR2 deletion: a new case

S Fengler, S Fuchs, R König, J Arnemann
J. Med. Genet. 2002; 39: 200-201. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene

Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, Jing-Houng Wang
J. Med. Genet. 2001; 38: e23. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

KRYSTYNA H CHRZANOWSKA, MARKUS STUMM, MONIKA BEKIESINSKA-FIGATOWSKA, RAYMONDA VARON, MAGDALENA BIALECKA, HANNA GREGOREK, JACEK MICHALKIEWICZ, MALGORZATA KRAJEWSKA-WALASEK, SERGIUSZ JOZWIAK, ANDRE REIS
J. Med. Genet. 2001; 38: e3. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

DORIT LEV, ORLY NAKAR, IRIT BAR-AM, ALEXANDER ZUDIK, NATHAN WATEMBERG, SHARON FINKELSTIEN, NIRIT KATZIN, TALLY LERMAN-SAGIE
J. Med. Genet. 2000; 37: e47. [Extract] [Full text] [PDF] [Request Permissions]