J Med Genet -- Table of Contents (39 [1])

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January 2002 (Volume 39, Number 1). [Index by author]

		Review articles Original articles Hypothesis Short reports Letters to JMG Book reviews

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Review articles

Familial adult renal neoplasia
M Takahashi, R Kahnoski, D Gross, D Nicol, and B T Teh
J Med Genet 2002; 39: 1-5. doi:10.1136/jmg.39.1.1 [Abstract] [Full text] [PDF] [Request Permissions]

Preimplantation genetic diagnosis in clinical practice
E Kanavakis and J Traeger-Synodinos
J Med Genet 2002; 39: 6-11. doi:10.1136/jmg.39.1.6 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, and H Campbell
J Med Genet 2002; 39: 16-22. doi:10.1136/jmg.39.1.16 [Abstract] [Full text] [PDF] [Request Permissions]

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the pro ${alpha}$ 1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
J M Pace, D Chitayat, M Atkinson, W R Wilcox, U Schwarze, and P H Byers
J Med Genet 2002; 39: 23-29. doi:10.1136/jmg.39.1.23 [Abstract] [Full text] [PDF] [Request Permissions]

High frequency of skewed X inactivation in young breast cancer patients
M Kristiansen, A Langerød, G P Knudsen, B L Weber, A-L Børresen-Dale, and K H Ørstavik
J Med Genet 2002; 39: 30-33. doi:10.1136/jmg.39.1.30 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

The null oncogene hypothesis and protection from cancer
M P Davenport, R L Ward, and N J Hawkins
J Med Genet 2002; 39: 12-14. doi:10.1136/jmg.39.1.12 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
J Körkkö, I Kaitila, L Lönnqvist, L Peltonen, and L Ala-Kokko
J Med Genet 2002; 39: 34-41. doi:10.1136/jmg.39.1.34 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

Association between markers in chromosomal region 17q23 and young onset hypertension: a TDT study
S-Y Wu, C S J Fann, Y-S Jou, J-W Chen, and W-H Pan
J Med Genet 2002; 39: 42-44. doi:10.1136/jmg.39.1.42 [Extract] [Full text] [PDF] [Request Permissions]

Paternal contribution to the risk for pre-eclampsia
P L M Zusterzeel, R te Morsche, M T M Raijmakers, E M Roes, W H M Peters, and E A P Steegers
J Med Genet 2002; 39: 44-45. doi:10.1136/jmg.39.1.44 [Extract] [Full text] [PDF] [Request Permissions]

Association of polymorphisms and allelic combinations in the tumour necrosis factor- ${alpha}$ -complement MHC region with coronary artery disease
C Szalai, G Füst, J Duba, J Kramer, L Romics, Z Prohászka, and A Császár
J Med Genet 2002; 39: 46-51. doi:10.1136/jmg.39.1.46 [Extract] [Full text] [PDF] [Request Permissions]

CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families
A L King, S J Moodie, J S Fraser, D Curtis, E Reid, A M Dearlove, H J Ellis, and P J Ciclitira
J Med Genet 2002; 39: 51-54. doi:10.1136/jmg.39.1.51 [Extract] [Full text] [PDF] [Request Permissions]

A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, and E Pras
J Med Genet 2002; 39: 54-57. doi:10.1136/jmg.39.1.54 [Extract] [Full text] [PDF] [Request Permissions]

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA
S Saviozzi, A Saluto, A M R Taylor, J I L Last, F Trebini, M C Paradiso, E Grosso, A Funaro, G Ponzio, N Migone, and A Brusco
J Med Genet 2002; 39: 57-61. doi:10.1136/jmg.39.1.57 [Extract] [Full text] [PDF] [Request Permissions]

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients
C Grayson, J P Chapple, K R Willison, A R Webster, A J Hardcastle, and M E Cheetham
J Med Genet 2002; 39: 62-67. doi:10.1136/jmg.39.1.62 [Extract] [Full text] [PDF] [Request Permissions]

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
K Becker, PL Beales, D M Calver, G Matthijs, and S N Mohammed
J Med Genet 2002; 39: 68-71. doi:10.1136/jmg.39.1.68 [Extract] [Full text] [PDF] [Request Permissions]

Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities
T Trummer, D Müller, A Schulze, W Vogel, and W Just
J Med Genet 2002; 39: 71-73. doi:10.1136/jmg.39.1.71 [Extract] [Full text] [PDF] [Request Permissions]

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
W Courtens, A-B Johansson, B Dachy, F Avni, N Telerman-Toppet, and H Scheffer
J Med Genet 2002; 39: 74-77. doi:10.1136/jmg.39.1.74 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

Dysmorphic Syndromes and Constitutional Diseases of the Skeleton : G Canepa, P Maroteaux, V Pietrogrande. Padova: Piccin Nuova Libraria, 2001.
Mohnish Suri
J Med Genet 2002; 39: 78. doi:10.1136/jmg.39.1.78 [Extract] [Full text] [PDF] [Request Permissions]

Colour Atlas of Genetics: 2nd edition. Eberhard Passarge. (Pp 457.) Stuttgart: Thieme. 2001. ISBN 3-13-100362-6. New York: Thieme. 2001. ISBN 0-86577-958-9.
M Lees
J Med Genet 2002; 39: 78. doi:10.1136/jmg.39.1.78-a [Extract] [Full text] [PDF] [Request Permissions]

Adrenal Disease in Childhood. Clinical and Molecular Aspects : Editors Ieuan A Hughes, Adrian J L Clark. Basle: Karger. 2001. ISBN 1421/7082.
T G Barrett
J Med Genet 2002; 39: 78-79. doi:10.1136/jmg.39.1.78-b [Extract] [Full text] [PDF] [Request Permissions]

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	Familial adult renal neoplasia M Takahashi, R Kahnoski, D Gross, D Nicol, and B T Teh J Med Genet 2002; 39: 1-5. doi:10.1136/jmg.39.1.1 [Abstract] [Full text] [PDF] [Request Permissions]

	Preimplantation genetic diagnosis in clinical practice E Kanavakis and J Traeger-Synodinos J Med Genet 2002; 39: 6-11. doi:10.1136/jmg.39.1.6 [Abstract] [Full text] [PDF] [Request Permissions]

	National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, and H Campbell J Med Genet 2002; 39: 16-22. doi:10.1136/jmg.39.1.16 [Abstract] [Full text] [PDF] [Request Permissions]

	A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the pro ${alpha}$ 1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases J M Pace, D Chitayat, M Atkinson, W R Wilcox, U Schwarze, and P H Byers J Med Genet 2002; 39: 23-29. doi:10.1136/jmg.39.1.23 [Abstract] [Full text] [PDF] [Request Permissions]

	High frequency of skewed X inactivation in young breast cancer patients M Kristiansen, A Langerød, G P Knudsen, B L Weber, A-L Børresen-Dale, and K H Ørstavik J Med Genet 2002; 39: 30-33. doi:10.1136/jmg.39.1.30 [Abstract] [Full text] [PDF] [Request Permissions]

	The null oncogene hypothesis and protection from cancer M P Davenport, R L Ward, and N J Hawkins J Med Genet 2002; 39: 12-14. doi:10.1136/jmg.39.1.12 [Abstract] [Full text] [PDF] [Request Permissions]

	Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions J Körkkö, I Kaitila, L Lönnqvist, L Peltonen, and L Ala-Kokko J Med Genet 2002; 39: 34-41. doi:10.1136/jmg.39.1.34 [Abstract] [Full text] [PDF] [Request Permissions]

	Association between markers in chromosomal region 17q23 and young onset hypertension: a TDT study S-Y Wu, C S J Fann, Y-S Jou, J-W Chen, and W-H Pan J Med Genet 2002; 39: 42-44. doi:10.1136/jmg.39.1.42 [Extract] [Full text] [PDF] [Request Permissions]

	Paternal contribution to the risk for pre-eclampsia P L M Zusterzeel, R te Morsche, M T M Raijmakers, E M Roes, W H M Peters, and E A P Steegers J Med Genet 2002; 39: 44-45. doi:10.1136/jmg.39.1.44 [Extract] [Full text] [PDF] [Request Permissions]

	Association of polymorphisms and allelic combinations in the tumour necrosis factor- ${alpha}$ -complement MHC region with coronary artery disease C Szalai, G Füst, J Duba, J Kramer, L Romics, Z Prohászka, and A Császár J Med Genet 2002; 39: 46-51. doi:10.1136/jmg.39.1.46 [Extract] [Full text] [PDF] [Request Permissions]

	CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families A L King, S J Moodie, J S Fraser, D Curtis, E Reid, A M Dearlove, H J Ellis, and P J Ciclitira J Med Genet 2002; 39: 51-54. doi:10.1136/jmg.39.1.51 [Extract] [Full text] [PDF] [Request Permissions]

	A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, and E Pras J Med Genet 2002; 39: 54-57. doi:10.1136/jmg.39.1.54 [Extract] [Full text] [PDF] [Request Permissions]

	A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA S Saviozzi, A Saluto, A M R Taylor, J I L Last, F Trebini, M C Paradiso, E Grosso, A Funaro, G Ponzio, N Migone, and A Brusco J Med Genet 2002; 39: 57-61. doi:10.1136/jmg.39.1.57 [Extract] [Full text] [PDF] [Request Permissions]

	In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients C Grayson, J P Chapple, K R Willison, A R Webster, A J Hardcastle, and M E Cheetham J Med Genet 2002; 39: 62-67. doi:10.1136/jmg.39.1.62 [Extract] [Full text] [PDF] [Request Permissions]

	*Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2* mutations in two new families** K Becker, PL Beales, D M Calver, G Matthijs, and S N Mohammed J Med Genet 2002; 39: 68-71. doi:10.1136/jmg.39.1.68 [Extract] [Full text] [PDF] [Request Permissions]

	Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities T Trummer, D Müller, A Schulze, W Vogel, and W Just J Med Genet 2002; 39: 71-73. doi:10.1136/jmg.39.1.71 [Extract] [Full text] [PDF] [Request Permissions]

	Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance W Courtens, A-B Johansson, B Dachy, F Avni, N Telerman-Toppet, and H Scheffer J Med Genet 2002; 39: 74-77. doi:10.1136/jmg.39.1.74 [Extract] [Full text] [PDF] [Request Permissions]

	Dysmorphic Syndromes and Constitutional Diseases of the Skeleton : G Canepa, P Maroteaux, V Pietrogrande. Padova: Piccin Nuova Libraria, 2001. Mohnish Suri J Med Genet 2002; 39: 78. doi:10.1136/jmg.39.1.78 [Extract] [Full text] [PDF] [Request Permissions]

	Colour Atlas of Genetics: 2nd edition. Eberhard Passarge. (Pp 457.) Stuttgart: Thieme. 2001. ISBN 3-13-100362-6. New York: Thieme. 2001. ISBN 0-86577-958-9. M Lees J Med Genet 2002; 39: 78. doi:10.1136/jmg.39.1.78-a [Extract] [Full text] [PDF] [Request Permissions]

	Adrenal Disease in Childhood. Clinical and Molecular Aspects : Editors Ieuan A Hughes, Adrian J L Clark. Basle: Karger. 2001. ISBN 1421/7082. T G Barrett J Med Genet 2002; 39: 78-79. doi:10.1136/jmg.39.1.78-b [Extract] [Full text] [PDF] [Request Permissions]

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