Journal of Medical Genetics: 44 (4)

Electronic letters

A survey of locus-specific database curation (30 March, 2007)
Richard G H Cotton, Kate Phillips, Ourania Horaitis
The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
(30 March, 2007)
Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga, Shiro Ikegawa

Online mutation report

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease (30 March, 2007)
M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets

Correspondence

Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
(30 March, 2007)
Nicola M Solomon, Shelley A Ross, Susan M Forrest, Paul Q Thomas, Thomas Morgan, Joseph L Belsky, Frans A Hol, Pamela S Karnes, Nancy J Hopwood, Susan E Myers, Anjanette S Tan, Garry L Warne
Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling (30 March, 2007)
Jacek Gronwald, Cezary Cybulski, Jan Lubinski, Steven A Narod
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver–Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely (30 March, 2007)
Thomas Eggermann, Nadine Schönherr, Katja Eggermann, Hartmut Wollmann

Review

X-linked retinoschisis: an update (15 December, 2006) Free
Stephen K Sikkink, Susmito Biswas, Neil R A Parry, Paulo E Stanga, Dorothy Trump

Original articles

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome (10 November, 2006)
Yuzhou Zhang, Mahdi Malekpour, Navid Al-Madani, Kimia Kahrizi, Marvam Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J H Smith
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network (14 November, 2006)
José Antonio Casado, Elsa Callén, Ariana Jacome, Paula Río, Maria Castella, Stephan Lobitz, Teresa Ferro, Arturo Muñoz, Julián Sevilla, Ángeles Cantalejo, Elena Cela, José Cervera, Jesús Sánchez-Calero, Isabel Badell, Jesús Estella, Ángeles Dasí, Teresa Olivé, Juan José Ortega, Antonia Rodriguez-Villa, María Tapia, Antonio Molinés, Luis Madero, José C Segovia, Kornelia Neveling, Reinhard Kalb, Detlev Schindler, Helmut Hanenberg, Jordi Surrallés, Juan A Bueren
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation (15 December, 2006)
Elyes Chabchoub, Laura Rodríguez, Enrique Galán, Elena Mansilla, Maria Luisa Martínez-Fernandez, Maria Luisa Martínez-Frías, Jean-Pierre Fryns, Joris Robert Vermeesch
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome (26 January, 2007)
F R Grati, L Turolla, P D’Ajello, A Ruggeri, M Miozzo, G Bracalente, D Baldo, L Laurino, R Boldorini, E Frate, N Surico, L Larizza, F Maggi, G Simoni

Short report

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 (12 January, 2007)
Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier

Letters to JMG

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 (8 September, 2006)
E Rajcan-Separovic, C Harvard, X Liu, B McGillivray, J G Hall, Y Qiao, J Hurlburt, J Hildebrand, E C R Mickelson, J J A Holden, M E S Lewis
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis (8 December, 2006)
J M van de Kamp, D J Lefeber, G J G Ruijter, S J Steggerda, N S den Hollander, S M Willems, G Matthijs, B J H M Poorthuis, R A Wevers
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
(10 November, 2006)
Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stevanin, Alexandra Durr, Alexis Brice
Phenotypic and population differences in the association between CILP and lumbar disc disease
(12 January, 2007)
I M Virtanen, Y Q Song, K M C Cheung, L Ala-Kokko, J Karppinen, D W H Ho, K D K Luk, S P Yip, J C Y Leong, K S E Cheah, P Sham, D Chan

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Table of contents

April 2007 - Volume 44 - 4

Electronic letters

Online mutation report

Correspondence

Review

Original articles

Short report

Letters to JMG

Issue Information

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Table of contents

April 2007 - Volume 44 - 4

Electronic letters

Online mutation report

Correspondence

Review

Original articles

Short report

Letters to JMG

Issue Information