J Med Genet -- Table of Contents (34 [10])

Subscribe here
Activate your subscription

Home > Volume 34, Number 10

Only Abstracts and PDFs available for this issue

Other Issues:
October 1997 (Volume 34, Number 10). [Index by author]

		Miscellaneous Book Reviews Letters to the Editor Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Cover (PDF) | Administration (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Miscellaneous

Correction
J Med Genet 1997; 34: 879. doi:10.1136/jmg.34.10.879-a [PDF] [Request Permissions]

Book Reviews

Gregor Mendel—The First Geneticist
George R Fraser
J Med Genet 1997; 34: 878-879. doi:10.1136/jmg.34.10.878 [PDF] [Request Permissions]

Essential Medical Genetics
Martinus F Niermeijer
J Med Genet 1997; 34: 879. doi:10.1136/jmg.34.10.879 [PDF] [Request Permissions]

Letters to the Editor

The Gene Bomb
David E Comings
J Med Genet 1997; 34: 876. doi:10.1136/jmg.34.10.876 [PDF] [Request Permissions]

Research Article

Severe manifestations in carrier females in X linked retinitis pigmentosa.
E Souied, B Segues, I Ghazi, J M Rozet, S Chatelin, S Gerber, I Perrault, A Michel-Awad, M L Briard, G Plessis, J L Dufier, A Munnich, and J Kaplan
J Med Genet 1997; 34: 793-797. doi:10.1136/jmg.34.10.793 [Abstract] [PDF] [Request Permissions]

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur, A Aurias, F L Raymond, J Clayton-Smith, E Hatchwell, C McKeown, F A Beemer, B Dallapiccola, G Novelli, J A Hurst, J Ignatius, A J Green, R M Winter, L Brueton, K Brøndum-Nielsen, and P J Scambler
J Med Genet 1997; 34: 798-804. doi:10.1136/jmg.34.10.798 [Abstract] [PDF] [Request Permissions]

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
A J van Essen, A L Kneppers, A H van der Hout, H Scheffer, I B Ginjaar, L P ten Kate, G J van Ommen, C H Buys, and E Bakker
J Med Genet 1997; 34: 805-812. doi:10.1136/jmg.34.10.805 [Abstract] [PDF] [Request Permissions]

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.
J Zlotogora, J Dagan, A Ganen, M Abu-Libdeh, Z Ben-Neriah, and T Cohen
J Med Genet 1997; 34: 813-816. doi:10.1136/jmg.34.10.813 [Abstract] [PDF] [Request Permissions]

Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.
R S Verma, S K Gogineni, S M Kleyman, and R A Conte
J Med Genet 1997; 34: 817-818. doi:10.1136/jmg.34.10.817 [Abstract] [PDF] [Request Permissions]

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
A Slavotinek, L Gaunt, and D Donnai
J Med Genet 1997; 34: 819-826. doi:10.1136/jmg.34.10.819 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina.
D M Iglesias, R S Martín, A Fraga, M Virginillo, A R Kornblihtt, E Arrizurieta, M Viribay, J L San Millán, M Herrera, and V Bernath
J Med Genet 1997; 34: 827-830. doi:10.1136/jmg.34.10.827 [Abstract] [PDF] [Request Permissions]

Evaluation of a project to enhance knowledge of hereditary diseases and management.
I R Walpole, C Watson, D Moore, J Goldblatt, and C Bower
J Med Genet 1997; 34: 831-837. doi:10.1136/jmg.34.10.831 [Abstract] [PDF] [Request Permissions]

Wolfram (DIDMOAD) syndrome.
T G Barrett and S E Bundey
J Med Genet 1997; 34: 838-841. doi:10.1136/jmg.34.10.838 [Abstract] [PDF] [Request Permissions]

Marshall-Smith syndrome: the expanding phenotype.
D K Williams, D R Carlton, S H Green, K Pearman, and T R Cole
J Med Genet 1997; 34: 842-845. doi:10.1136/jmg.34.10.842 [Abstract] [PDF] [Request Permissions]

Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
D E McFadden, J T Pantzar, M I Van Allen, and S Langlois
J Med Genet 1997; 34: 846-848. doi:10.1136/jmg.34.10.846 [Abstract] [PDF] [Request Permissions]

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
K H Orstavik, P Strømme, J Ek, A Torvik, and O H Skjeldal
J Med Genet 1997; 34: 849-851. doi:10.1136/jmg.34.10.849 [Abstract] [PDF] [Request Permissions]

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
A A Morris, J S Sequeira, M Malone, S F Slaney, and P T Clayton
J Med Genet 1997; 34: 852-853. doi:10.1136/jmg.34.10.852 [Abstract] [PDF] [Request Permissions]

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
A Castriota-Scanderbeg, R Mingarelli, G Caramia, P Osimani, R S Lachman, D L Rimoin, W R Wilcox, and B Dallapiccola
J Med Genet 1997; 34: 854-856. doi:10.1136/jmg.34.10.854 [Abstract] [PDF] [Request Permissions]

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
A Slavotinek, E Maher, P Gregory, P Rowlandson, and S M Huson
J Med Genet 1997; 34: 857-861. doi:10.1136/jmg.34.10.857 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.
A Slavotinek and H Kingston
J Med Genet 1997; 34: 862-865. doi:10.1136/jmg.34.10.862 [Abstract] [PDF] [Request Permissions]

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
N M Savage, N A Maclachlan, C A Joyce, I E Moore, and J A Crolla
J Med Genet 1997; 34: 866-868. doi:10.1136/jmg.34.10.866 [Abstract] [PDF] [Request Permissions]

Persistence of Mediterranean anaemia in Sicily.
M A Romeo, F Di Gregorio, and G Russo
J Med Genet 1997; 34: 869-870. doi:10.1136/jmg.34.10.869 [Abstract] [PDF] [Request Permissions]

Instability of normal (CTG)n alleles in the DM kinase gene.
D J Dow, D C Rubinsztein, J R Yates, D E Barton, and M A Ferguson-Smith
J Med Genet 1997; 34: 871-873. doi:10.1136/jmg.34.10.871 [Abstract] [PDF] [Request Permissions]

Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.
A J Sandford, J J Spinelli, T D Weir, and P D Paré
J Med Genet 1997; 34: 874-875. doi:10.1136/jmg.34.10.874 [Abstract] [PDF] [Request Permissions]

Gaucher disease plus.
E Sidransky and E I Ginns
J Med Genet 1997; 34: 876-877. doi:10.1136/jmg.34.10.876-a [PDF] [Request Permissions]

Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)
E A Parizotto and C S Bertuzzo
J Med Genet 1997; 34: 877. doi:10.1136/jmg.34.10.877 [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Correction J Med Genet 1997; 34: 879. doi:10.1136/jmg.34.10.879-a [PDF] [Request Permissions]

	Gregor Mendel—The First Geneticist George R Fraser J Med Genet 1997; 34: 878-879. doi:10.1136/jmg.34.10.878 [PDF] [Request Permissions]

	Essential Medical Genetics Martinus F Niermeijer J Med Genet 1997; 34: 879. doi:10.1136/jmg.34.10.879 [PDF] [Request Permissions]

	The Gene Bomb David E Comings J Med Genet 1997; 34: 876. doi:10.1136/jmg.34.10.876 [PDF] [Request Permissions]

	Severe manifestations in carrier females in X linked retinitis pigmentosa. E Souied, B Segues, I Ghazi, J M Rozet, S Chatelin, S Gerber, I Perrault, A Michel-Awad, M L Briard, G Plessis, J L Dufier, A Munnich, and J Kaplan J Med Genet 1997; 34: 793-797. doi:10.1136/jmg.34.10.793 [Abstract] [PDF] [Request Permissions]

	Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur, A Aurias, F L Raymond, J Clayton-Smith, E Hatchwell, C McKeown, F A Beemer, B Dallapiccola, G Novelli, J A Hurst, J Ignatius, A J Green, R M Winter, L Brueton, K Brøndum-Nielsen, and P J Scambler J Med Genet 1997; 34: 798-804. doi:10.1136/jmg.34.10.798 [Abstract] [PDF] [Request Permissions]

	The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. A J van Essen, A L Kneppers, A H van der Hout, H Scheffer, I B Ginjaar, L P ten Kate, G J van Ommen, C H Buys, and E Bakker J Med Genet 1997; 34: 805-812. doi:10.1136/jmg.34.10.805 [Abstract] [PDF] [Request Permissions]

	A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism. J Zlotogora, J Dagan, A Ganen, M Abu-Libdeh, Z Ben-Neriah, and T Cohen J Med Genet 1997; 34: 813-816. doi:10.1136/jmg.34.10.813 [Abstract] [PDF] [Request Permissions]

	Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH. R S Verma, S K Gogineni, S M Kleyman, and R A Conte J Med Genet 1997; 34: 817-818. doi:10.1136/jmg.34.10.817 [Abstract] [PDF] [Request Permissions]

	Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. A Slavotinek, L Gaunt, and D Donnai J Med Genet 1997; 34: 819-826. doi:10.1136/jmg.34.10.819 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina. D M Iglesias, R S Martín, A Fraga, M Virginillo, A R Kornblihtt, E Arrizurieta, M Viribay, J L San Millán, M Herrera, and V Bernath J Med Genet 1997; 34: 827-830. doi:10.1136/jmg.34.10.827 [Abstract] [PDF] [Request Permissions]

	Evaluation of a project to enhance knowledge of hereditary diseases and management. I R Walpole, C Watson, D Moore, J Goldblatt, and C Bower J Med Genet 1997; 34: 831-837. doi:10.1136/jmg.34.10.831 [Abstract] [PDF] [Request Permissions]

	Wolfram (DIDMOAD) syndrome. T G Barrett and S E Bundey J Med Genet 1997; 34: 838-841. doi:10.1136/jmg.34.10.838 [Abstract] [PDF] [Request Permissions]

	Marshall-Smith syndrome: the expanding phenotype. D K Williams, D R Carlton, S H Green, K Pearman, and T R Cole J Med Genet 1997; 34: 842-845. doi:10.1136/jmg.34.10.842 [Abstract] [PDF] [Request Permissions]

	Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. D E McFadden, J T Pantzar, M I Van Allen, and S Langlois J Med Genet 1997; 34: 846-848. doi:10.1136/jmg.34.10.846 [Abstract] [PDF] [Request Permissions]

	Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome? K H Orstavik, P Strømme, J Ek, A Torvik, and O H Skjeldal J Med Genet 1997; 34: 849-851. doi:10.1136/jmg.34.10.849 [Abstract] [PDF] [Request Permissions]

	Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). A A Morris, J S Sequeira, M Malone, S F Slaney, and P T Clayton J Med Genet 1997; 34: 852-853. doi:10.1136/jmg.34.10.852 [Abstract] [PDF] [Request Permissions]

	Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. A Castriota-Scanderbeg, R Mingarelli, G Caramia, P Osimani, R S Lachman, D L Rimoin, W R Wilcox, and B Dallapiccola J Med Genet 1997; 34: 854-856. doi:10.1136/jmg.34.10.854 [Abstract] [PDF] [Request Permissions]

	The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. A Slavotinek, E Maher, P Gregory, P Rowlandson, and S M Huson J Med Genet 1997; 34: 857-861. doi:10.1136/jmg.34.10.857 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions. A Slavotinek and H Kingston J Med Genet 1997; 34: 862-865. doi:10.1136/jmg.34.10.862 [Abstract] [PDF] [Request Permissions]

	Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. N M Savage, N A Maclachlan, C A Joyce, I E Moore, and J A Crolla J Med Genet 1997; 34: 866-868. doi:10.1136/jmg.34.10.866 [Abstract] [PDF] [Request Permissions]

	Persistence of Mediterranean anaemia in Sicily. M A Romeo, F Di Gregorio, and G Russo J Med Genet 1997; 34: 869-870. doi:10.1136/jmg.34.10.869 [Abstract] [PDF] [Request Permissions]

	Instability of normal (CTG)n alleles in the DM kinase gene. D J Dow, D C Rubinsztein, J R Yates, D E Barton, and M A Ferguson-Smith J Med Genet 1997; 34: 871-873. doi:10.1136/jmg.34.10.871 [Abstract] [PDF] [Request Permissions]

	Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease. A J Sandford, J J Spinelli, T D Weir, and P D Paré J Med Genet 1997; 34: 874-875. doi:10.1136/jmg.34.10.874 [Abstract] [PDF] [Request Permissions]

	Gaucher disease plus. E Sidransky and E I Ginns J Med Genet 1997; 34: 876-877. doi:10.1136/jmg.34.10.876-a [PDF] [Request Permissions]

	Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil) E A Parizotto and C S Bertuzzo J Med Genet 1997; 34: 877. doi:10.1136/jmg.34.10.877 [PDF] [Request Permissions]