Clinical diagnostic tests

Citations 11-20 of 291 total displayed.

Letters to JMG
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

D Z Loesch, M Cook, L Litewka, E Gould, A Churchyard, F Tassone, H R Slater, E Storey
J. Med. Genet. 2008 45: 179 -181; published online before print as 10.1136/jmg.2007.054171 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Isolated cytochrome c oxidase deficiency as a cause of MELAS

W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, R E Bittner
J. Med. Genet. 2008; 45: 117-121. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, O Zuffardi
J. Med. Genet. 2007 44: 750 -762; published online before print as 10.1136/jmg.2007.052787 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Original articles
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot, Sabrina Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Benoit Arveiler, Didier Lacombe, Eric Pasmant, Béatrice Parfait, Clarisse Baumann, Delphine Héron, Sabine Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloes, Hélène Cavé
J. Med. Genet. 2007 44: 763 -771; published online before print as 10.1136/jmg.2007.050450 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
The T/G–13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population

F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä
J. Med. Genet. 2007; 44: e89. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Wen-Hann Tan, Hagit N Baris, Patricia E Burrows, Caroline D Robson, Ahmad I Alomari, John B Mulliken, Steven J Fishman, Mira B Irons
J. Med. Genet. 2007 44: 594 -602; published online before print as 10.1136/jmg.2007.048934 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, D G R Evans
J. Med. Genet. 2007 44: 481 -484; published online before print as 10.1136/jmg.2007.049346 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Coordinated transcriptional regulation patterns associated with infertility phenotypes in men

Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, Nabeel A Affara
J. Med. Genet. 2007 44: 498 -508; published online before print as 10.1136/jmg.2007.049650 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics

J Barwell, L Pangon, S Hodgson, A Georgiou, I Kesterton, T Slade, M Taylor, S J Payne, H Brinkman, J Smythe, N J Sebire, E Solomon, Z Docherty, R Camplejohn, T Homfray, J R Morris
J. Med. Genet. 2007 44: 516 -520; published online before print as 10.1136/jmg.2006.048660 [Abstract] [Full text] [PDF] [Request Permissions] [ web only figure ]  

Letters to JMG
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Anne Ronan, Kerry Fagan, Louise Christie, Jeffrey Conroy, Norma J Nowak, Gillian Turner
J. Med. Genet. 2007 44: 448 -451; published online before print as 10.1136/jmg.2006.047373 [Abstract] [Full text] [PDF] [Request Permissions]