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April 2007 (Volume 44, Number 4). [Index by author]

		Reviews Original articles Short reports Letters to JMG Correspondence Electronic letters Online mutation report

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Reviews

X-linked retinoschisis: an update
Stephen K Sikkink, Susmito Biswas, Neil R A Parry, Paulo E Stanga, and Dorothy Trump
J Med Genet 2007; 44: 225-232. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 December 2006. doi:10.1136/jmg.2006.047340

Original articles

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, and Richard J H Smith
J Med Genet 2007; 44: 233-240. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 10 November 2006. doi:10.1136/jmg.2006.045765

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network
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, and Juan A Bueren
J Med Genet 2007; 44: 241-249. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 November 2006. doi:10.1136/jmg.2006.044719

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation
Elyes Chabchoub, Laura Rodríguez, Enrique Galán, Elena Mansilla, Maria Luisa Martínez-Fernandez, Maria Luisa Martínez-Frías, Jean-Pierre Fryns, and Joris Robert Vermeesch
J Med Genet 2007; 44: 250-256. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 December 2006. doi:10.1136/jmg.2006.045476

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome
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, and G Simoni
J Med Genet 2007; 44: 257-263. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 January 2007. doi:10.1136/jmg.2006.046854

Short reports

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
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, and Geert Mortier
J Med Genet 2007; 44: 264-268. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.047860

Letters to JMG

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
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, and M E S Lewis
J Med Genet 2007; 44: 269-276. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 September 2006. doi:10.1136/jmg.2006.045013

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
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, and R A Wevers
J Med Genet 2007; 44: 277-280. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 December 2006. doi:10.1136/jmg.2006.044735

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stevanin, Alexandra Durr, and Alexis Brice
J Med Genet 2007; 44: 281-284. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 10 November 2006. doi:10.1136/jmg.2006.046425

Phenotypic and population differences in the association between CILP and lumbar disc disease
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, and D Chan
J Med Genet 2007; 44: 285-288. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.047076

Correspondence

Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
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, and Garry L Warne
J Med Genet 2007; 44: e75. doi:10.1136/jmg.2007.049049 [Extract] [Full text] [PDF] [Request Permissions]

Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling
Jacek Gronwald, Cezary Cybulski, Jan Lubinski, and Steven A Narod
J Med Genet 2007; 44: e76. doi:10.1136/jmg.2006.048462 [Extract] [Full text] [PDF] [Request Permissions]

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
Thomas Eggermann, Nadine Schönherr, Katja Eggermann, and Hartmut Wollmann
J Med Genet 2007; 44: e77. doi:10.1136/jmg.2007.049130 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

A survey of locus-specific database curation
Richard G H Cotton, Kate Phillips, and Ourania Horaitis
J Med Genet 2007; 44: e72. doi:10.1136/jmg.2006.044081 [Abstract] [Full text] [PDF] [Request Permissions]

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
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, and Shiro Ikegawa
J Med Genet 2007; 44: e73. doi:10.1136/jmg.2006.043869 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation report

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease
M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, and H J Smeets
J Med Genet 2007; 44: e74. doi:10.1136/jmg.2006.045716 [Abstract] [Full text] [PDF] [Request Permissions]

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	X-linked retinoschisis: an update Stephen K Sikkink, Susmito Biswas, Neil R A Parry, Paulo E Stanga, and Dorothy Trump J Med Genet 2007; 44: 225-232. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 December 2006. doi:10.1136/jmg.2006.047340

	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, and Richard J H Smith J Med Genet 2007; 44: 233-240. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 10 November 2006. doi:10.1136/jmg.2006.045765

	A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network 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, and Juan A Bueren J Med Genet 2007; 44: 241-249. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 November 2006. doi:10.1136/jmg.2006.044719

	Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation Elyes Chabchoub, Laura Rodríguez, Enrique Galán, Elena Mansilla, Maria Luisa Martínez-Fernandez, Maria Luisa Martínez-Frías, Jean-Pierre Fryns, and Joris Robert Vermeesch J Med Genet 2007; 44: 250-256. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 December 2006. doi:10.1136/jmg.2006.045476

	Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome 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, and G Simoni J Med Genet 2007; 44: 257-263. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 January 2007. doi:10.1136/jmg.2006.046854

	Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 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, and M E S Lewis J Med Genet 2007; 44: 269-276. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 September 2006. doi:10.1136/jmg.2006.045013

	Congenital disorder of glycosylation type Ia presenting with hydrops fetalis 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, and R A Wevers J Med Genet 2007; 44: 277-280. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 December 2006. doi:10.1136/jmg.2006.044735

	*Exon deletions of SPG4* are a frequent cause of hereditary spastic paraplegia** Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stevanin, Alexandra Durr, and Alexis Brice J Med Genet 2007; 44: 281-284. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 10 November 2006. doi:10.1136/jmg.2006.046425

	*Phenotypic and population differences in the association between CILP* and lumbar disc disease** 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, and D Chan J Med Genet 2007; 44: 285-288. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.047076

	Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 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, and Garry L Warne J Med Genet 2007; 44: e75. doi:10.1136/jmg.2007.049049 [Extract] [Full text] [PDF] [Request Permissions]

	Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling Jacek Gronwald, Cezary Cybulski, Jan Lubinski, and Steven A Narod J Med Genet 2007; 44: e76. doi:10.1136/jmg.2006.048462 [Extract] [Full text] [PDF] [Request Permissions]

	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 Thomas Eggermann, Nadine Schönherr, Katja Eggermann, and Hartmut Wollmann J Med Genet 2007; 44: e77. doi:10.1136/jmg.2007.049130 [Extract] [Full text] [PDF] [Request Permissions]

	A survey of locus-specific database curation Richard G H Cotton, Kate Phillips, and Ourania Horaitis J Med Genet 2007; 44: e72. doi:10.1136/jmg.2006.044081 [Abstract] [Full text] [PDF] [Request Permissions]

	*The Shwachman–Bodian–Diamond syndrome* gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type** 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, and Shiro Ikegawa J Med Genet 2007; 44: e73. doi:10.1136/jmg.2006.043869 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, and H J Smeets J Med Genet 2007; 44: e74. doi:10.1136/jmg.2006.045716 [Abstract] [Full text] [PDF] [Request Permissions]