J Med Genet -- Table of Contents (29 [1])

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January 1992 (Volume 29, Number 1). [Index by author]

		Book Reviews Letters to the Editor Medical Genetics: Advances in Brief Research Article

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Book Reviews

Book reviews
I D Young
J Med Genet 1992; 29: 72. doi:10.1136/jmg.29.1.72 [PDF] [Request Permissions]

Annual Review of Genetics
Andrew P Read
J Med Genet 1992; 29: 72. doi:10.1136/jmg.29.1.72-a [PDF] [Request Permissions]

Letters to the Editor

Reply
Gillian Turner and Michael W Partington
J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71-a [PDF] [Request Permissions]

Medical Genetics: Advances in Brief

Comments on important topics from papers in other journals: Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
W Reardon
J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70 [PDF] [Request Permissions]

Comments on important genetic topics from papers in other journals: Disease and evolution
Andrew Wilkie
J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-a [PDF] [Request Permissions]

Comments on important genetic topics from papers in other journals: X linked recessive nephrolithiasis with renal failure
Andrew Norman
J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-b [PDF] [Request Permissions]

Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution
T R P Cole
J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-c [PDF] [Request Permissions]

Comments on important genetic topics from papers in other journals: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
J C K Barber
J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-d [PDF] [Request Permissions]

Research Article

The human genome project and medical genetics.
P S Harper
J Med Genet 1992; 29: 1-2. doi:10.1136/jmg.29.1.1 [PDF] [Request Permissions]

Charcot-Marie-Tooth disease type 1.
S Malcolm
J Med Genet 1992; 29: 3-4. doi:10.1136/jmg.29.1.3 [PDF] [Request Permissions]

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
P Raeymaekers, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, and C Van Broeckhoven
J Med Genet 1992; 29: 5-11. doi:10.1136/jmg.29.1.5 [Abstract] [PDF] [Request Permissions]

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
J C MacMillan, M Upadhyaya, and P S Harper
J Med Genet 1992; 29: 12-13. doi:10.1136/jmg.29.1.12 [Abstract] [PDF] [Request Permissions]

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.
A P Walker, N G Laing, T Yamada, D C Chandler, B A Kakulas, and R J Bartlett
J Med Genet 1992; 29: 14-19. doi:10.1136/jmg.29.1.14 [Abstract] [PDF] [Request Permissions]

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.
H V Firth and R H Lindenbaum
J Med Genet 1992; 29: 20-23. doi:10.1136/jmg.29.1.20 [Abstract] [PDF] [Request Permissions]

Effects of genetic screening on perceptions of health: a pilot study.
T M Marteau, M van Duijn, and I Ellis
J Med Genet 1992; 29: 24-26. doi:10.1136/jmg.29.1.24 [Abstract] [PDF] [Request Permissions]

What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.
N Kalsheker, K Hayes, S Weidinger, and A Graham
J Med Genet 1992; 29: 27-29. doi:10.1136/jmg.29.1.27 [Abstract] [PDF] [Request Permissions]

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.
B Källén, E E Castilla, P A Lancaster, O Mutchinick, L B Knudsen, M L Martínez-Frías, P Mastroiacovo, and E Robert
J Med Genet 1992; 29: 30-35. doi:10.1136/jmg.29.1.30 [Abstract] [PDF] [Request Permissions]

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
L D van Osch, A P Oranje, F M Keukens, P C van Voorst Vader, and E Veldman
J Med Genet 1992; 29: 36-40. doi:10.1136/jmg.29.1.36 [Abstract] [PDF] [Request Permissions]

Familial Scheuermann disease: a genetic and linkage study.
L McKenzie and D Sillence
J Med Genet 1992; 29: 41-45. doi:10.1136/jmg.29.1.41 [Abstract] [PDF] [Request Permissions]

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.
J H DiLiberti
J Med Genet 1992; 29: 46-49. doi:10.1136/jmg.29.1.46 [Abstract] [PDF] [Request Permissions]

Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
M Sharland, N R Bleach, P D Goberdhan, and M A Patton
J Med Genet 1992; 29: 50-52. doi:10.1136/jmg.29.1.50 [Abstract] [PDF] [Request Permissions]

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
R Tupler, L Bortotto, E M Bühler, M Alkan, N J Malik, N Bösch-Al Jadooa, L Memo, and P Maraschio
J Med Genet 1992; 29: 53-55. doi:10.1136/jmg.29.1.53 [Abstract] [PDF] [Request Permissions]

Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.
G M Pastores, V V Michels, D J Schaid, D J Driscoll, R H Feldt, and S N Thibodeau
J Med Genet 1992; 29: 56-57. doi:10.1136/jmg.29.1.56 [PDF] [Request Permissions]

Schwartz-Jampel syndrome (chondrodystrophic myotonia).
D Viljoen and P Beighton
J Med Genet 1992; 29: 58-62. doi:10.1136/jmg.29.1.58 [Abstract] [PDF] [Request Permissions]

Unbalanced 13;18 translocation and Williams syndrome.
A Colley, Y Thakker, H Ward, and D Donnai
J Med Genet 1992; 29: 63-65. doi:10.1136/jmg.29.1.63 [Abstract] [PDF] [Request Permissions]

Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
R S Verma, R A Conte, J H Pitter, and S Luke
J Med Genet 1992; 29: 66-67. doi:10.1136/jmg.29.1.66 [Abstract] [PDF] [Request Permissions]

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
S Lyonnet, G Schwartz, G Gatin, Y de Prost, A Munnich, and M Le Merrer
J Med Genet 1992; 29: 68-69. doi:10.1136/jmg.29.1.68 [Abstract] [PDF] [Request Permissions]

Genes for intelligence on the X chromosome.
N E Morton
J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71 [PDF] [Request Permissions]

Another human homologue for the mouse mutant disorganisation.
R C Hennekam
J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71-b [PDF] [Request Permissions]

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	Book reviews I D Young J Med Genet 1992; 29: 72. doi:10.1136/jmg.29.1.72 [PDF] [Request Permissions]

	Annual Review of Genetics Andrew P Read J Med Genet 1992; 29: 72. doi:10.1136/jmg.29.1.72-a [PDF] [Request Permissions]

	Reply Gillian Turner and Michael W Partington J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71-a [PDF] [Request Permissions]

	Comments on important topics from papers in other journals: Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene W Reardon J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70 [PDF] [Request Permissions]

	Comments on important genetic topics from papers in other journals: Disease and evolution Andrew Wilkie J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-a [PDF] [Request Permissions]

	Comments on important genetic topics from papers in other journals: X linked recessive nephrolithiasis with renal failure Andrew Norman J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-b [PDF] [Request Permissions]

	Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution T R P Cole J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-c [PDF] [Request Permissions]

	Comments on important genetic topics from papers in other journals: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients J C K Barber J Med Genet 1992; 29: 70. doi:10.1136/jmg.29.1.70-d [PDF] [Request Permissions]

	The human genome project and medical genetics. P S Harper J Med Genet 1992; 29: 1-2. doi:10.1136/jmg.29.1.1 [PDF] [Request Permissions]

	Charcot-Marie-Tooth disease type 1. S Malcolm J Med Genet 1992; 29: 3-4. doi:10.1136/jmg.29.1.3 [PDF] [Request Permissions]

	Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. P Raeymaekers, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, and C Van Broeckhoven J Med Genet 1992; 29: 5-11. doi:10.1136/jmg.29.1.5 [Abstract] [PDF] [Request Permissions]

	Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. J C MacMillan, M Upadhyaya, and P S Harper J Med Genet 1992; 29: 12-13. doi:10.1136/jmg.29.1.12 [Abstract] [PDF] [Request Permissions]

	A TaqI map of the dystrophin gene useful for deletion and carrier status analysis. A P Walker, N G Laing, T Yamada, D C Chandler, B A Kakulas, and R J Bartlett J Med Genet 1992; 29: 14-19. doi:10.1136/jmg.29.1.14 [Abstract] [PDF] [Request Permissions]

	UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. H V Firth and R H Lindenbaum J Med Genet 1992; 29: 20-23. doi:10.1136/jmg.29.1.20 [Abstract] [PDF] [Request Permissions]

	Effects of genetic screening on perceptions of health: a pilot study. T M Marteau, M van Duijn, and I Ellis J Med Genet 1992; 29: 24-26. doi:10.1136/jmg.29.1.24 [Abstract] [PDF] [Request Permissions]

	What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. N Kalsheker, K Hayes, S Weidinger, and A Graham J Med Genet 1992; 29: 27-29. doi:10.1136/jmg.29.1.27 [Abstract] [PDF] [Request Permissions]

	The cyclops and the mermaid: an epidemiological study of two types of rare malformation. B Källén, E E Castilla, P A Lancaster, O Mutchinick, L B Knudsen, M L Martínez-Frías, P Mastroiacovo, and E Robert J Med Genet 1992; 29: 30-35. doi:10.1136/jmg.29.1.30 [Abstract] [PDF] [Request Permissions]

	Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. L D van Osch, A P Oranje, F M Keukens, P C van Voorst Vader, and E Veldman J Med Genet 1992; 29: 36-40. doi:10.1136/jmg.29.1.36 [Abstract] [PDF] [Request Permissions]

	Familial Scheuermann disease: a genetic and linkage study. L McKenzie and D Sillence J Med Genet 1992; 29: 41-45. doi:10.1136/jmg.29.1.41 [Abstract] [PDF] [Request Permissions]

	Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. J H DiLiberti J Med Genet 1992; 29: 46-49. doi:10.1136/jmg.29.1.46 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. M Sharland, N R Bleach, P D Goberdhan, and M A Patton J Med Genet 1992; 29: 50-52. doi:10.1136/jmg.29.1.50 [Abstract] [PDF] [Request Permissions]

	Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. R Tupler, L Bortotto, E M Bühler, M Alkan, N J Malik, N Bösch-Al Jadooa, L Memo, and P Maraschio J Med Genet 1992; 29: 53-55. doi:10.1136/jmg.29.1.53 [Abstract] [PDF] [Request Permissions]

	Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. G M Pastores, V V Michels, D J Schaid, D J Driscoll, R H Feldt, and S N Thibodeau J Med Genet 1992; 29: 56-57. doi:10.1136/jmg.29.1.56 [PDF] [Request Permissions]

	Schwartz-Jampel syndrome (chondrodystrophic myotonia). D Viljoen and P Beighton J Med Genet 1992; 29: 58-62. doi:10.1136/jmg.29.1.58 [Abstract] [PDF] [Request Permissions]

	Unbalanced 13;18 translocation and Williams syndrome. A Colley, Y Thakker, H Ward, and D Donnai J Med Genet 1992; 29: 63-65. doi:10.1136/jmg.29.1.63 [Abstract] [PDF] [Request Permissions]

	Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies. R S Verma, R A Conte, J H Pitter, and S Luke J Med Genet 1992; 29: 66-67. doi:10.1136/jmg.29.1.66 [Abstract] [PDF] [Request Permissions]

	Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? S Lyonnet, G Schwartz, G Gatin, Y de Prost, A Munnich, and M Le Merrer J Med Genet 1992; 29: 68-69. doi:10.1136/jmg.29.1.68 [Abstract] [PDF] [Request Permissions]

	Genes for intelligence on the X chromosome. N E Morton J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71 [PDF] [Request Permissions]

	Another human homologue for the mouse mutant disorganisation. R C Hennekam J Med Genet 1992; 29: 71. doi:10.1136/jmg.29.1.71-b [PDF] [Request Permissions]