Genetic screening / counselling

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, A Rossi

Journal of Medical Genetics Dec 2008, 45 (12) 827-831; DOI: 10.1136/jmg.2007.057158
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, O Zuffardi

Journal of Medical Genetics Mar 2008, 45 (3) 147-154; DOI: 10.1136/jmg.2007.054007
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans
F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler

Journal of Medical Genetics Jan 2008, 45 (1) 47-54; DOI: 10.1136/jmg.2007.053561
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola

Journal of Medical Genetics Dec 2007, 44 (12) 800-808; DOI: 10.1136/jmg.2007.053785
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, Ineke van der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Silke Reif, Christian von Schnakenburg, Heide Seidel, Lars-Erik Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P Kratz, Christoph Thomas, Kerstin Kutsche

Journal of Medical Genetics Oct 2007, 44 (10) 651-656; DOI: 10.1136/jmg.2007.051276
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations
Richard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, Nazneen Rahman

Journal of Medical Genetics Jul 2007, 44 (7) e83; DOI: 10.1136/jmg.2007.048942
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
Marcella Martinelli, Mariateresa Di Stazio, Luca Scapoli, Jlenia Marchesini, Filomena Di Bari, Furio Pezzetti, Francesco Carinci, Annalisa Palmieri, Paolo Carinci, Anna Savoia

Journal of Medical Genetics Jun 2007, 44 (6) 387-392; DOI: 10.1136/jmg.2006.047837
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, Klaus Zerres

Journal of Medical Genetics Jun 2007, 44 (6) e81; DOI: 10.1136/jmg.2007.049122
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
Yuzhou Zhang, Mahdi Malekpour, Navid Al-Madani, Kimia Kahrizi, Marvam Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J H Smith

Journal of Medical Genetics Apr 2007, 44 (4) 233-240; DOI: 10.1136/jmg.2006.045765
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
Martin Zenker, Katarina Lehmann, Anna Leana Schulz, Helmut Barth, Dagmar Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiss-Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S Quante, Salmo Raskin, Dirk Schnabel, Lars-Erik Wehner, Christian P Kratz, Denise Horn, Kerstin Kutsche

Journal of Medical Genetics Feb 2007, 44 (2) 131-135; DOI: 10.1136/jmg.2006.046300

Main menu

Genetic screening / counselling

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Genetic screening / counselling

Pages