Journal of Medical Genetics: 44 (1)

Review

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
(6 July, 2006) Free
Blanche P Alter, Philip S Rosenberg, Lawrence C Brody

Original articles

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening (1 November, 2006)
A Smith, A Moran, M C Boyd, M Bulman, A Shenton, L Smith, R Iddenden, E R Woodward, F Lalloo, E R Maher, D G R Evans
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
(1 September, 2006)
Cheng-Lung Ku, Capucine Picard, Melinda Erdös, Axel Jeurissen, Jacinta Bustamante, Anne Puel, Horst von Bernuth, Orchidée Filipe-Santos, Huey-Hsuan Chang, Tatiana Lawrence, Marc Raes, László Maródi, Xavier Bossuyt, Jean-Laurent Casanova
Genomewide scans of red cell indices suggest linkage on chromosome 6q23 (1 September, 2006) Free
A Iliadou, D M Evans, G Zhu, D L Duffy, I H Frazer, G W Montgomery, N G Martin
Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region (13 September, 2006)
C Diatloff-Zito, A Nicole, G Marcelin, H Labit, E Marquis, C Bellanné-Chantelot, J J Robert
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
(13 September, 2006)
M Fanin, A C Nascimbeni, C Angelini
Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds (3 October, 2006)
J M Andresen, J Gayán, S S Cherny, D Brocklebank, G Alkorta-Aranburu, E A Addis, L R Cardon, D E Housman, N S Wexler
Ultra-high resolution array painting facilitates breakpoint sequencing (13 September, 2006)
S M Gribble, D Kalaitzopoulos, D C Burford, E Prigmore, R R Selzer, B L Ng, N S W Matthews, K M Porter, R Curley, S J Lindsay, J Baptista, T A Richmond, N P Carter

Short report

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome (8 September, 2006)
Nadine Schönherr, Esther Meyer, Andreas Roos, Angela Schmidt, Hartmut A Wollmann, Thomas Eggermann

Electronic letters

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes (10 November, 2006)
Jennifer J Johnston, Robert L Walker, Sean Davis, Flavia Facio, Joyce T Turner, David P Bick, Donna L Daentl, Jay W Ellison, Paul S Meltzer, Leslie G Biesecker
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients (5 January, 2007)
Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, Paola Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, Oriana Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino
Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1 (5 January, 2007)
Douglas R Stewart, Christopher L Corless, Brian P Rubin, Michael C Heinrich, Ludwine M Messiaen, Lisa J Kessler, Paul J Zhang, David G Brooks
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women (5 January, 2007)
Bermseok Oh, Shin-Yoon Kim, Duk Jae Kim, Jong Yong Lee, Jong-Keuk Lee, Kuchan Kimm, Byung Lae Park, Hyoung Doo Shin, Tae-Ho Kim, Eui Kyun Park, Jung-Min Koh, Ghi Su Kim
Is α-T catenin (VR22) an Alzheimer’s disease risk gene?
(5 January, 2007)
Lars Bertram, Kristina Mullin, Michele Parkinson, Monica Hsiao, Thomas J Moscarillo, Steven L Wagner, K David Becker, Gonul Velicelebi, Deborah Blacker, Rudolph E Tanzi

Letters to JMG

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 (6 July, 2006)
Xiaodong Jiao, Afia Sultana, Prashant Garg, Balasubramanya Ramamurthy, Geeta K Vemuganti, Nibaran Gangopadhyay, J Fielding Hejtmancik, Chitra Kannabiran
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation (1 September, 2006) Free
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, Patrick F Chinnery
Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells
(6 July, 2006)
Hafid Alazzouzi, Gianpaolo Suriano, Angel Guerra, Alberto Plaja, Eloi Espín, Manel Armengol, Pia Alhopuro, Sergia Velho, Yasuhisa Shinomura, Juan José González-Aguilera, Hiroyuki Yamamoto, Lauri A Aaltonen, Víctor Moreno, Gabriel Capellà, Miguel Angel Peinado, Raquel Seruca, Diego Arango, Simó Schwartz

Correspondence

Mutations in PLA2G6 and the riddle of Schindler disease
(5 January, 2007)
S K Westaway, A Gregory, S J Hayflick

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Table of contents

January 2007 - Volume 44 - 1

Review

Original articles

Short report

Electronic letters

Letters to JMG

Correspondence

Issue Information

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Table of contents

January 2007 - Volume 44 - 1

Review

Original articles

Short report

Electronic letters

Letters to JMG

Correspondence

Issue Information