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October 1996 (Volume 33, Number 10). [Index by author]

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Book Reviews

Cystic Fibrosis: Current Topics
Ann Harris
J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887-a [PDF] [Request Permissions]

Introduction to Veterinary Genetics
Mary J Seller
J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887-b [PDF] [Request Permissions]

Research Article

The epidemiology of anotia and microtia.
J Harris, B Källén, and E Robert
J Med Genet 1996; 33: 809-813. doi:10.1136/jmg.33.10.809 [Abstract] [PDF] [Request Permissions]

Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.
F Durocher, P Tonin, D Shattuck-Eidens, M Skolnick, S A Narod, and J Simard
J Med Genet 1996; 33: 814-819. doi:10.1136/jmg.33.10.814 [Abstract] [PDF] [Request Permissions]

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
C Vazquez, G Antiñolo, T Casals, J Dapena, J Elorz, J L Seculi, J Sirvent, R Cabanas, C Soler, and X Estivill
J Med Genet 1996; 33: 820-822. doi:10.1136/jmg.33.10.820 [Abstract] [PDF] [Request Permissions]

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.
J J MacKenzie, J Fitzpatrick, P Babyn, G B Ferrero, A Ballabio, G Billingsley, D E Bulman, P Strasberg, P N Ray, and T Costa
J Med Genet 1996; 33: 823-828. doi:10.1136/jmg.33.10.823 [Abstract] [PDF] [Request Permissions]

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
M van Bael, M R Natowicz, J Tomczak, E E Grebner, and E M Prence
J Med Genet 1996; 33: 829-832. doi:10.1136/jmg.33.10.829 [Abstract] [PDF] [Request Permissions]

Locus heterogeneity in progressive familial intrahepatic cholestasis.
S S Strautnieks, A F Kagalwalla, M S Tanner, R M Gardiner, and R J Thompson
J Med Genet 1996; 33: 833-836. doi:10.1136/jmg.33.10.833 [Abstract] [PDF] [Request Permissions]

Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.
C L James, P Rellos, M Ali, A F Heeley, and T M Cox
J Med Genet 1996; 33: 837-841. doi:10.1136/jmg.33.10.837 [Abstract] [PDF] [Request Permissions]

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
T Drumheller, B C McGillivray, D Behrner, P MacLeod, D E McFadden, J Roberson, C Venditti, K Chorney, M Chorney, and D I Smith
J Med Genet 1996; 33: 842-847. doi:10.1136/jmg.33.10.842 [Abstract] [PDF] [Request Permissions]

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
B Horsthemke, A Maat-Kievit, E Sleegers, A van den Ouweland, K Buiting, C Lich, P Mollevanger, G Beverstock, G Gillessen-Kaesbach, and G Schwanitz
J Med Genet 1996; 33: 848-851. doi:10.1136/jmg.33.10.848 [Abstract] [PDF] [Request Permissions]

Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.
K S Reddy, V Sulcova, and B Siassi
J Med Genet 1996; 33: 852-855. doi:10.1136/jmg.33.10.852 [Abstract] [PDF] [Request Permissions]

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.
K Lawson, S Wiggins, T Green, S Adam, M Bloch, and M R Hayden
J Med Genet 1996; 33: 856-862. doi:10.1136/jmg.33.10.856 [Abstract] [PDF] [Request Permissions]

Zellweger syndrome and associated phenotypes.
D R FitzPatrick
J Med Genet 1996; 33: 863-868. doi:10.1136/jmg.33.10.863 [Abstract] [PDF] [Request Permissions]

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
A A Bergen, J B ten Brink, F Riemslag, E J Schuurman, F Meire, N Tijmes, and P T de Jong
J Med Genet 1996; 33: 869-872. doi:10.1136/jmg.33.10.869 [Abstract] [PDF] [Request Permissions]

Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
M E Oude Luttikhuis, D K Williams, and R C Trembath
J Med Genet 1996; 33: 873-876. doi:10.1136/jmg.33.10.873 [Abstract] [PDF] [Request Permissions]

Currarino triad with a terminal deletion 7q35-->qter.
M Masuno, K Imaizumi, N Aida, Y Tanaka, K Sekido, Y Ohhama, T Nishi, and Y Kuroki
J Med Genet 1996; 33: 877-878. doi:10.1136/jmg.33.10.877 [Abstract] [PDF] [Request Permissions]

Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.
J W Hou and T R Wang
J Med Genet 1996; 33: 879-881. doi:10.1136/jmg.33.10.879 [Abstract] [PDF] [Request Permissions]

Megalocornea-mental retardation syndrome: report of a new case.
I Barisic, I Ligutic, and L Zergollern
J Med Genet 1996; 33: 882-883. doi:10.1136/jmg.33.10.882 [Abstract] [PDF] [Request Permissions]

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
R Mingarelli, A Castriota Scanderbeg, and B Dallapiccola
J Med Genet 1996; 33: 884-886. doi:10.1136/jmg.33.10.884 [Abstract] [PDF] [Request Permissions]

Indirect inguinal hernia among Bedouins.
V K Grover, A M Nur, R Usha, T I Farag, and M A Sabry
J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887 [PDF] [Request Permissions]

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	Cystic Fibrosis: Current Topics Ann Harris J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887-a [PDF] [Request Permissions]

	Introduction to Veterinary Genetics Mary J Seller J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887-b [PDF] [Request Permissions]

	The epidemiology of anotia and microtia. J Harris, B Källén, and E Robert J Med Genet 1996; 33: 809-813. doi:10.1136/jmg.33.10.809 [Abstract] [PDF] [Request Permissions]

	Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. F Durocher, P Tonin, D Shattuck-Eidens, M Skolnick, S A Narod, and J Simard J Med Genet 1996; 33: 814-819. doi:10.1136/jmg.33.10.814 [Abstract] [PDF] [Request Permissions]

	Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. C Vazquez, G Antiñolo, T Casals, J Dapena, J Elorz, J L Seculi, J Sirvent, R Cabanas, C Soler, and X Estivill J Med Genet 1996; 33: 820-822. doi:10.1136/jmg.33.10.820 [Abstract] [PDF] [Request Permissions]

	X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J J MacKenzie, J Fitzpatrick, P Babyn, G B Ferrero, A Ballabio, G Billingsley, D E Bulman, P Strasberg, P N Ray, and T Costa J Med Genet 1996; 33: 823-828. doi:10.1136/jmg.33.10.823 [Abstract] [PDF] [Request Permissions]

	Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. M van Bael, M R Natowicz, J Tomczak, E E Grebner, and E M Prence J Med Genet 1996; 33: 829-832. doi:10.1136/jmg.33.10.829 [Abstract] [PDF] [Request Permissions]

	Locus heterogeneity in progressive familial intrahepatic cholestasis. S S Strautnieks, A F Kagalwalla, M S Tanner, R M Gardiner, and R J Thompson J Med Genet 1996; 33: 833-836. doi:10.1136/jmg.33.10.833 [Abstract] [PDF] [Request Permissions]

	Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. C L James, P Rellos, M Ali, A F Heeley, and T M Cox J Med Genet 1996; 33: 837-841. doi:10.1136/jmg.33.10.837 [Abstract] [PDF] [Request Permissions]

	Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. T Drumheller, B C McGillivray, D Behrner, P MacLeod, D E McFadden, J Roberson, C Venditti, K Chorney, M Chorney, and D I Smith J Med Genet 1996; 33: 842-847. doi:10.1136/jmg.33.10.842 [Abstract] [PDF] [Request Permissions]

	Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. B Horsthemke, A Maat-Kievit, E Sleegers, A van den Ouweland, K Buiting, C Lich, P Mollevanger, G Beverstock, G Gillessen-Kaesbach, and G Schwanitz J Med Genet 1996; 33: 848-851. doi:10.1136/jmg.33.10.848 [Abstract] [PDF] [Request Permissions]

	Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. K S Reddy, V Sulcova, and B Siassi J Med Genet 1996; 33: 852-855. doi:10.1136/jmg.33.10.852 [Abstract] [PDF] [Request Permissions]

	Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing. K Lawson, S Wiggins, T Green, S Adam, M Bloch, and M R Hayden J Med Genet 1996; 33: 856-862. doi:10.1136/jmg.33.10.856 [Abstract] [PDF] [Request Permissions]

	Zellweger syndrome and associated phenotypes. D R FitzPatrick J Med Genet 1996; 33: 863-868. doi:10.1136/jmg.33.10.863 [Abstract] [PDF] [Request Permissions]

	Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. A A Bergen, J B ten Brink, F Riemslag, E J Schuurman, F Meire, N Tijmes, and P T de Jong J Med Genet 1996; 33: 869-872. doi:10.1136/jmg.33.10.869 [Abstract] [PDF] [Request Permissions]

	Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. M E Oude Luttikhuis, D K Williams, and R C Trembath J Med Genet 1996; 33: 873-876. doi:10.1136/jmg.33.10.873 [Abstract] [PDF] [Request Permissions]

	Currarino triad with a terminal deletion 7q35-->qter. M Masuno, K Imaizumi, N Aida, Y Tanaka, K Sekido, Y Ohhama, T Nishi, and Y Kuroki J Med Genet 1996; 33: 877-878. doi:10.1136/jmg.33.10.877 [Abstract] [PDF] [Request Permissions]

	Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. J W Hou and T R Wang J Med Genet 1996; 33: 879-881. doi:10.1136/jmg.33.10.879 [Abstract] [PDF] [Request Permissions]

	Megalocornea-mental retardation syndrome: report of a new case. I Barisic, I Ligutic, and L Zergollern J Med Genet 1996; 33: 882-883. doi:10.1136/jmg.33.10.882 [Abstract] [PDF] [Request Permissions]

	Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). R Mingarelli, A Castriota Scanderbeg, and B Dallapiccola J Med Genet 1996; 33: 884-886. doi:10.1136/jmg.33.10.884 [Abstract] [PDF] [Request Permissions]

	Indirect inguinal hernia among Bedouins. V K Grover, A M Nur, R Usha, T I Farag, and M A Sabry J Med Genet 1996; 33: 887. doi:10.1136/jmg.33.10.887 [PDF] [Request Permissions]