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November 1992 (Volume 29, Number 11). [Index by author]

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Articles

Editor's note
Peter S Harper
J Med Genet 1992; 29: 790. doi:10.1136/jmg.29.11.790 [PDF] [Request Permissions]

Abstracts

Medical genetics: advances in brief: Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression
Andrew Wilkie
J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839 [PDF] [Request Permissions]

Medical genetics: advances in brief
N S Thakker
J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Antenatal maternal serum screening for Down's syndrome: results of a demonstration project
Andrew Norman
J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Six-year results of a randomised prospective trial of human growth hormone and oxandrolone in Turner syndrome
David Fitzpatrick
J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel
N S Thakker
J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-d [PDF] [Request Permissions]

Articles

Editor's note
Peter S Harper
J Med Genet 1992; 29: 790. doi:10.1136/jmg.29.11.790 [PDF] [Request Permissions]

Book Reviews

Preimplantation Genetics
Marilyn Monk
J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840 [PDF] [Request Permissions]

Early Fetal Diagnosis: Recent Progress and Public Health Implication
D J H Brock
J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840-a [PDF] [Request Permissions]

Medical Genetics in Canada: Evolution of a Hybrid Discipline. Essays on the Early History
Jonathan Zonana
J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840-b [PDF] [Request Permissions]

Case Reports

De novo inverted duplication of chromosome 7q
J S Haslam and A M Norman
J Med Genet 1992; 29: 837-838. doi:10.1136/jmg.29.11.837 [Abstract] [PDF] [Request Permissions]

Research Article

Instability versus predictability: the molecular diagnosis of myotonic dystrophy.
G K Suthers, S M Huson, and K E Davies
J Med Genet 1992; 29: 761-765. doi:10.1136/jmg.29.11.761 [PDF] [Request Permissions]

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.
J Davies, H Yamagata, P Shelbourne, J Buxton, T Ogihara, P Nokelainen, M Nakagawa, R Williamson, K Johnson, and T Miki
J Med Genet 1992; 29: 766-769. doi:10.1136/jmg.29.11.766 [Abstract] [PDF] [Request Permissions]

Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
W Reardon, H G Harley, J D Brook, S A Rundle, S Crow, P S Harper, and D J Shaw
J Med Genet 1992; 29: 770-773. doi:10.1136/jmg.29.11.770 [Abstract] [PDF] [Request Permissions]

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.
A Hunter, C Tsilfidis, G Mettler, P Jacob, M Mahadevan, L Surh, and R Korneluk
J Med Genet 1992; 29: 774-779. doi:10.1136/jmg.29.11.774 [Abstract] [PDF] [Request Permissions]

Presymptomatic diagnosis of myotonic dystrophy.
H G Brunner, W Nillesen, B A van Oost, G Jansen, B Wieringa, H H Ropers, and H J Smeets
J Med Genet 1992; 29: 780-784. doi:10.1136/jmg.29.11.780 [Abstract] [PDF] [Request Permissions]

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.
J Myring, A L Meredith, H G Harley, G Kohn, G Norbury, P S Harper, and D J Shaw
J Med Genet 1992; 29: 785-788. doi:10.1136/jmg.29.11.785 [Abstract] [PDF] [Request Permissions]

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
S Melchionda, A Cobo, M Gennarelli, L Martorell, C Fattorini, M Baiget, A Lopez de Munain, K Johnson, P Shelbourne, and G Novelli
J Med Genet 1992; 29: 789-790. doi:10.1136/jmg.29.11.789 [Abstract] [PDF] [Request Permissions]

Intestinal pseudo-obstruction in myotonic dystrophy.
H G Brunner, B C Hamel, P Rieu, C J Höweler, and F T Peters
J Med Genet 1992; 29: 791-793. doi:10.1136/jmg.29.11.791 [Abstract] [PDF] [Request Permissions]

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
D Heitz, D Devys, G Imbert, C Kretz, and J L Mandel
J Med Genet 1992; 29: 794-801. doi:10.1136/jmg.29.11.794 [Abstract] [PDF] [Request Permissions]

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
J N Macpherson, D L Nelson, and P A Jacobs
J Med Genet 1992; 29: 802-806. doi:10.1136/jmg.29.11.802 [Abstract] [PDF] [Request Permissions]

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
A Brice, N Ravisé, G Stevanin, M Gugenheim, P Bouche, C Penet, and Y Agid
J Med Genet 1992; 29: 807-812. doi:10.1136/jmg.29.11.807 [Abstract] [PDF] [Request Permissions]

High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.
M S Figueiredo, J E Dos Santos, F L Alberto, and M A Zago
J Med Genet 1992; 29: 813-815. doi:10.1136/jmg.29.11.813 [Abstract] [PDF] [Request Permissions]

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).
G Wolff, A Mayerová, T F Wienker, P Atalianis, P Ioannou, and M Warburg
J Med Genet 1992; 29: 816-819. doi:10.1136/jmg.29.11.816 [Abstract] [PDF] [Request Permissions]

Factors affecting the uptake of prenatal diagnosis for sickle cell disease.
M Petrou, M Brugiatelli, R H Ward, and B Modell
J Med Genet 1992; 29: 820-823. doi:10.1136/jmg.29.11.820 [Abstract] [PDF] [Request Permissions]

Polyglandular autoimmune syndrome type I among Iranian Jews.
J Zlotogora and M S Shapiro
J Med Genet 1992; 29: 824-826. doi:10.1136/jmg.29.11.824 [Abstract] [PDF] [Request Permissions]

Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
K H Orstavik, S E Tangsrud, T Nordshus, A M Finnanger, C Hellum, and E Gjessing
J Med Genet 1992; 29: 827-830. doi:10.1136/jmg.29.11.827 [Abstract] [PDF] [Request Permissions]

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
I D Young, N R Ruggins, J M Somers, J M Zuccollo, and N Rutter
J Med Genet 1992; 29: 831-833. doi:10.1136/jmg.29.11.831 [Abstract] [PDF] [Request Permissions]

An atypical form of mucolipidosis III.
P Freisinger, J C Padovani, and P Maroteaux
J Med Genet 1992; 29: 834-836. doi:10.1136/jmg.29.11.834 [Abstract] [PDF] [Request Permissions]

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	Editor's note Peter S Harper J Med Genet 1992; 29: 790. doi:10.1136/jmg.29.11.790 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression Andrew Wilkie J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839 [PDF] [Request Permissions]

	Medical genetics: advances in brief N S Thakker J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Antenatal maternal serum screening for Down's syndrome: results of a demonstration project Andrew Norman J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Six-year results of a randomised prospective trial of human growth hormone and oxandrolone in Turner syndrome David Fitzpatrick J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel N S Thakker J Med Genet 1992; 29: 839. doi:10.1136/jmg.29.11.839-d [PDF] [Request Permissions]

	Preimplantation Genetics Marilyn Monk J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840 [PDF] [Request Permissions]

	Early Fetal Diagnosis: Recent Progress and Public Health Implication D J H Brock J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840-a [PDF] [Request Permissions]

	Medical Genetics in Canada: Evolution of a Hybrid Discipline. Essays on the Early History Jonathan Zonana J Med Genet 1992; 29: 840. doi:10.1136/jmg.29.11.840-b [PDF] [Request Permissions]

	De novo inverted duplication of chromosome 7q J S Haslam and A M Norman J Med Genet 1992; 29: 837-838. doi:10.1136/jmg.29.11.837 [Abstract] [PDF] [Request Permissions]

	Instability versus predictability: the molecular diagnosis of myotonic dystrophy. G K Suthers, S M Huson, and K E Davies J Med Genet 1992; 29: 761-765. doi:10.1136/jmg.29.11.761 [PDF] [Request Permissions]

	Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Davies, H Yamagata, P Shelbourne, J Buxton, T Ogihara, P Nokelainen, M Nakagawa, R Williamson, K Johnson, and T Miki J Med Genet 1992; 29: 766-769. doi:10.1136/jmg.29.11.766 [Abstract] [PDF] [Request Permissions]

	Minimal expression of myotonic dystrophy: a clinical and molecular analysis. W Reardon, H G Harley, J D Brook, S A Rundle, S Crow, P S Harper, and D J Shaw J Med Genet 1992; 29: 770-773. doi:10.1136/jmg.29.11.770 [Abstract] [PDF] [Request Permissions]

	The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. A Hunter, C Tsilfidis, G Mettler, P Jacob, M Mahadevan, L Surh, and R Korneluk J Med Genet 1992; 29: 774-779. doi:10.1136/jmg.29.11.774 [Abstract] [PDF] [Request Permissions]

	Presymptomatic diagnosis of myotonic dystrophy. H G Brunner, W Nillesen, B A van Oost, G Jansen, B Wieringa, H H Ropers, and H J Smeets J Med Genet 1992; 29: 780-784. doi:10.1136/jmg.29.11.780 [Abstract] [PDF] [Request Permissions]

	Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. J Myring, A L Meredith, H G Harley, G Kohn, G Norbury, P S Harper, and D J Shaw J Med Genet 1992; 29: 785-788. doi:10.1136/jmg.29.11.785 [Abstract] [PDF] [Request Permissions]

	Expansion of the myotonic dystrophy gene in Italian and Spanish patients. S Melchionda, A Cobo, M Gennarelli, L Martorell, C Fattorini, M Baiget, A Lopez de Munain, K Johnson, P Shelbourne, and G Novelli J Med Genet 1992; 29: 789-790. doi:10.1136/jmg.29.11.789 [Abstract] [PDF] [Request Permissions]

	Intestinal pseudo-obstruction in myotonic dystrophy. H G Brunner, B C Hamel, P Rieu, C J Höweler, and F T Peters J Med Genet 1992; 29: 791-793. doi:10.1136/jmg.29.11.791 [Abstract] [PDF] [Request Permissions]

	Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. D Heitz, D Devys, G Imbert, C Kretz, and J L Mandel J Med Genet 1992; 29: 794-801. doi:10.1136/jmg.29.11.794 [Abstract] [PDF] [Request Permissions]

	Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. J N Macpherson, D L Nelson, and P A Jacobs J Med Genet 1992; 29: 802-806. doi:10.1136/jmg.29.11.802 [Abstract] [PDF] [Request Permissions]

	Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. A Brice, N Ravisé, G Stevanin, M Gugenheim, P Bouche, C Penet, and Y Agid J Med Genet 1992; 29: 807-812. doi:10.1136/jmg.29.11.807 [Abstract] [PDF] [Request Permissions]

	High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia. M S Figueiredo, J E Dos Santos, F L Alberto, and M A Zago J Med Genet 1992; 29: 813-815. doi:10.1136/jmg.29.11.813 [Abstract] [PDF] [Request Permissions]

	Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease). G Wolff, A Mayerová, T F Wienker, P Atalianis, P Ioannou, and M Warburg J Med Genet 1992; 29: 816-819. doi:10.1136/jmg.29.11.816 [Abstract] [PDF] [Request Permissions]

	Factors affecting the uptake of prenatal diagnosis for sickle cell disease. M Petrou, M Brugiatelli, R H Ward, and B Modell J Med Genet 1992; 29: 820-823. doi:10.1136/jmg.29.11.820 [Abstract] [PDF] [Request Permissions]

	Polyglandular autoimmune syndrome type I among Iranian Jews. J Zlotogora and M S Shapiro J Med Genet 1992; 29: 824-826. doi:10.1136/jmg.29.11.824 [Abstract] [PDF] [Request Permissions]

	Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. K H Orstavik, S E Tangsrud, T Nordshus, A M Finnanger, C Hellum, and E Gjessing J Med Genet 1992; 29: 827-830. doi:10.1136/jmg.29.11.827 [Abstract] [PDF] [Request Permissions]

	Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. I D Young, N R Ruggins, J M Somers, J M Zuccollo, and N Rutter J Med Genet 1992; 29: 831-833. doi:10.1136/jmg.29.11.831 [Abstract] [PDF] [Request Permissions]

	An atypical form of mucolipidosis III. P Freisinger, J C Padovani, and P Maroteaux J Med Genet 1992; 29: 834-836. doi:10.1136/jmg.29.11.834 [Abstract] [PDF] [Request Permissions]