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April 2006 (Volume 43, Number 4). [Index by author]

		Reviews Original articles Letters to JMG Electronic letters

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Reviews

Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes
D G R Evans, J M Birch, R T Ramsden, S Sharif, and M E Baser
J Med Genet 2006; 43: 289-294. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036319

Original articles

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, and A Thomas
J Med Genet 2006; 43: 295-305. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 July 2005. doi:10.1136/jmg.2005.033878

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman, A Geurts van Kessel, B B A De Vries, H G Brunner, L H Hoefsloot, and C M A van Ravenswaaij
J Med Genet 2006; 43: 306-314. [Abstract] [Full text] [Web-only tables] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036061

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment
A Del Fattore, B Peruzzi, N Rucci, I Recchia, A Cappariello, M Longo, D Fortunati, P Ballanti, M Iacobini, M Luciani, R Devito, R Pinto, M Caniglia, E Lanino, C Messina, S Cesaro, C Letizia, G Bianchini, H Fryssira, P Grabowski, N Shaw, N Bishop, D Hughes, R P Kapur, H K Datta, A Taranta, R Fornari, S Migliaccio, and A Teti
J Med Genet 2006; 43: 315-325. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 August 2005. doi:10.1136/jmg.2005.036673

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, and S Amselem
J Med Genet 2006; 43: 326-333. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 July 2005. doi:10.1136/jmg.2005.034868

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, and I A Glass
J Med Genet 2006; 43: 334-339. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036608

ETHE1 mutations are specific to ethylmalonic encephalopathy
V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu-Libdeh, L Cindro-Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, and M Zeviani
J Med Genet 2006; 43: 340-346. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 September 2005. doi:10.1136/jmg.2005.036210

Natural history of Fabry disease in females in the Fabry Outcome Survey
P B Deegan, A F Baehner, M-Á Barba Romero, D A Hughes, C Kampmann, M Beck, on behalf of the European FOS Investigators
J Med Genet 2006; 43: 347-352. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036327

Prenatal detection of unbalanced chromosomal rearrangements by array CGH
L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, N P Carter, and M Bobrow
J Med Genet 2006; 43: 353-361. [Abstract] [Full text] [Web-only table] [PDF] [Request Permissions]
Published Online First: 30 September 2005. doi:10.1136/jmg.2005.037648

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg, A P M de Brouwer, T Kleefstra, A R Oudakker, S G M Frints, C T R M Schrander-Stumpel, J P Fryns, L R Jensen, J Chelly, C Moraine, G Turner, J A Veltman, B C J Hamel, B B A de Vries, H van Bokhoven, and H G Yntema
J Med Genet 2006; 43: 362-370. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 16 September 2005. doi:10.1136/jmg.2005.036178

Letters to JMG

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
T G W Letteboer, J J Mager, R J Snijder, B P C Koeleman, D Lindhout, J K Ploos van Amstel, and C J J Westermann
J Med Genet 2006; 43: 371-377. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.035451

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
A Abid, M Ismail, S Q Mehdi, and S Khaliq
J Med Genet 2006; 43: 378-381. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 September 2005. doi:10.1136/jmg.2005.035055

An SNP in protamine 1: a possible genetic cause of male infertility?
N Iguchi, S Yang, D J Lamb, and N B Hecht
J Med Genet 2006; 43: 382-384. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 September 2005. doi:10.1136/jmg.2005.037168

Electronic letters

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
E Rudd, K Göransdotter Ericson, C Zheng, Z Uysal, A Özkan, A Gürgey, B Fadeel, M Nordenskjöld, and J-I Henter
J Med Genet 2006; 43: e14. doi:10.1136/jmg.2005.035253 [Abstract] [Full text] [PDF] [Request Permissions]

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
N C M Hearle, M F Rudd, W Lim, V Murday, A G Lim, R K Phillips, P W Lee, J O’Donohue, P J Morrison, A Norman, S V Hodgson, A Lucassen, and R S Houlston
J Med Genet 2006; 43: e15. doi:10.1136/jmg.2005.036830 [Abstract] [Full text] [PDF] [Request Permissions]

Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome
X (R) Yang, R M Pfeiffer, and A M Goldstein
J Med Genet 2006; 43: e16. doi:10.1136/jmg.2005.035006 [Abstract] [Full text] [PDF] [Request Permissions]

Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism
H Yasuda, S Okinaga, M Yamaya, T Ohrui, M Higuchi, M Shinkawa, S Itabashi, K Nakayama, M Asada, A Kikuchi, S Shibahara, and H Sasaki
J Med Genet 2006; 43: e17. doi:10.1136/jmg.2005.035824 [Abstract] [Full text] [PDF] [Request Permissions]

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	Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes D G R Evans, J M Birch, R T Ramsden, S Sharif, and M E Baser J Med Genet 2006; 43: 289-294. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036319

	Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, and A Thomas J Med Genet 2006; 43: 295-305. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 July 2005. doi:10.1136/jmg.2005.033878

	*CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7* gene** M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman, A Geurts van Kessel, B B A De Vries, H G Brunner, L H Hoefsloot, and C M A van Ravenswaaij J Med Genet 2006; 43: 306-314. [Abstract] [Full text] [Web-only tables] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036061

	Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment A Del Fattore, B Peruzzi, N Rucci, I Recchia, A Cappariello, M Longo, D Fortunati, P Ballanti, M Iacobini, M Luciani, R Devito, R Pinto, M Caniglia, E Lanino, C Messina, S Cesaro, C Letizia, G Bianchini, H Fryssira, P Grabowski, N Shaw, N Bishop, D Hughes, R P Kapur, H K Datta, A Taranta, R Fornari, S Migliaccio, and A Teti J Med Genet 2006; 43: 315-325. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 August 2005. doi:10.1136/jmg.2005.036673

	RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, and S Amselem J Med Genet 2006; 43: 326-333. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 July 2005. doi:10.1136/jmg.2005.034868

	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, and I A Glass J Med Genet 2006; 43: 334-339. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036608

	ETHE1 mutations are specific to ethylmalonic encephalopathy V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu-Libdeh, L Cindro-Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, and M Zeviani J Med Genet 2006; 43: 340-346. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 September 2005. doi:10.1136/jmg.2005.036210

	Natural history of Fabry disease in females in the Fabry Outcome Survey P B Deegan, A F Baehner, M-Á Barba Romero, D A Hughes, C Kampmann, M Beck, on behalf of the European FOS Investigators J Med Genet 2006; 43: 347-352. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036327

	Prenatal detection of unbalanced chromosomal rearrangements by array CGH L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, N P Carter, and M Bobrow J Med Genet 2006; 43: 353-361. [Abstract] [Full text] [Web-only table] [PDF] [Request Permissions] Published Online First: 30 September 2005. doi:10.1136/jmg.2005.037648

	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH D Lugtenberg, A P M de Brouwer, T Kleefstra, A R Oudakker, S G M Frints, C T R M Schrander-Stumpel, J P Fryns, L R Jensen, J Chelly, C Moraine, G Turner, J A Veltman, B C J Hamel, B B A de Vries, H van Bokhoven, and H G Yntema J Med Genet 2006; 43: 362-370. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 16 September 2005. doi:10.1136/jmg.2005.036178

	Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia T G W Letteboer, J J Mager, R J Snijder, B P C Koeleman, D Lindhout, J K Ploos van Amstel, and C J J Westermann J Med Genet 2006; 43: 371-377. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.035451

	*Identification of novel mutations in the SEMA4A* gene associated with retinal degenerative diseases** A Abid, M Ismail, S Q Mehdi, and S Khaliq J Med Genet 2006; 43: 378-381. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 September 2005. doi:10.1136/jmg.2005.035055

	An SNP in protamine 1: a possible genetic cause of male infertility? N Iguchi, S Yang, D J Lamb, and N B Hecht J Med Genet 2006; 43: 382-384. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 September 2005. doi:10.1136/jmg.2005.037168

	Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies E Rudd, K Göransdotter Ericson, C Zheng, Z Uysal, A Özkan, A Gürgey, B Fadeel, M Nordenskjöld, and J-I Henter J Med Genet 2006; 43: e14. doi:10.1136/jmg.2005.035253 [Abstract] [Full text] [PDF] [Request Permissions]

	*Exonic STK11* deletions are not a rare cause of Peutz-Jeghers syndrome** N C M Hearle, M F Rudd, W Lim, V Murday, A G Lim, R K Phillips, P W Lee, J O’Donohue, P J Morrison, A Norman, S V Hodgson, A Lucassen, and R S Houlston J Med Genet 2006; 43: e15. doi:10.1136/jmg.2005.036830 [Abstract] [Full text] [PDF] [Request Permissions]

	Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome X (R) Yang, R M Pfeiffer, and A M Goldstein J Med Genet 2006; 43: e16. doi:10.1136/jmg.2005.035006 [Abstract] [Full text] [PDF] [Request Permissions]

	Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism H Yasuda, S Okinaga, M Yamaya, T Ohrui, M Higuchi, M Shinkawa, S Itabashi, K Nakayama, M Asada, A Kikuchi, S Shibahara, and H Sasaki J Med Genet 2006; 43: e17. doi:10.1136/jmg.2005.035824 [Abstract] [Full text] [PDF] [Request Permissions]