J Med Genet -- Table of Contents (34 [12])

Subscribe here
Activate your subscription

Home > Volume 34, Number 12

Only Abstracts and PDFs available for this issue

Other Issues:
December 1997 (Volume 34, Number 12). [Index by author]

		Miscellaneous Book Reviews Medical Genetics: Advances in Brief 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: 1039. doi:10.1136/jmg.34.12.1039-a [PDF] [Request Permissions]

Book Reviews

Chromosomes Today
Thomas Haaf
J Med Genet 1997; 34: 1038-1039. doi:10.1136/jmg.34.12.1038-a [PDF] [Request Permissions]

Genes VI
Ann Harris
J Med Genet 1997; 34: 1039. doi:10.1136/jmg.34.12.1039 [PDF] [Request Permissions]

Medical Genetics: Advances in Brief

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
Frances Flinter
J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037 [PDF] [Request Permissions]

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues
Evan Reid
J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037-a [PDF] [Request Permissions]

Medical genetics: advances in brief
Evan Reid
J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037-b [PDF] [Request Permissions]

Research Article

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).
C G Sauer, H D Schworm, M Ulbig, A Blankenagel, K Rohrschneider, D Pauleikhoff, T Grimm, and B H Weber
J Med Genet 1997; 34: 961-966. doi:10.1136/jmg.34.12.961 [Abstract] [PDF] [Request Permissions]

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.
M J Seller, J T Behnam, C M Lewis, R L Johnston, M A Burdon, and D J Spalton
J Med Genet 1997; 34: 967-972. doi:10.1136/jmg.34.12.967 [Abstract] [PDF] [Request Permissions]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
M Fanin, D J Duggan, M L Mostacciuolo, F Martinello, M P Freda, G Sorarù, C P Trevisan, E P Hoffman, and C Angelini
J Med Genet 1997; 34: 973-977. doi:10.1136/jmg.34.12.973 [Abstract] [PDF] [Request Permissions]

Muscular involvement in the Holt-Oram syndrome.
S Spranger, H Ulmer, J Tröger, O Jansen, J Graf, H M Meinck, and M Spranger
J Med Genet 1997; 34: 978-981. doi:10.1136/jmg.34.12.978 [Abstract] [PDF] [Request Permissions]

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
J Leggo, A Dalton, P J Morrison, A Dodge, M Connarty, M J Kotze, and D C Rubinsztein
J Med Genet 1997; 34: 982-985. doi:10.1136/jmg.34.12.982 [Abstract] [PDF] [Request Permissions]

Features of DiGeorge syndrome and CHARGE association in five patients.
P de Lonlay-Debeney, V Cormier-Daire, J Amiel, V Abadie, S Odent, A Paupe, S Couderc, A L Tellier, D Bonnet, M Prieur, M Vekemans, A Munnich, and S Lyonnet
J Med Genet 1997; 34: 986-989. doi:10.1136/jmg.34.12.986 [Abstract] [PDF] [Request Permissions]

BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.
A M Garvin, M Attenhofer-Haner, and R J Scott
J Med Genet 1997; 34: 990-995. doi:10.1136/jmg.34.12.990 [Abstract] [PDF] [Request Permissions]

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
E A el-Harith, T Dörk, M Stuhrmann, H Abu-Srair, A al-Shahri, K M Keller, M J Lentze, and J Schmidtke
J Med Genet 1997; 34: 996-999. doi:10.1136/jmg.34.12.996 [Abstract] [PDF] [Request Permissions]

Effects of consanguineous marriage on reproductive outcome in an Arab community in Israel.
L Jaber, P Merlob, R Gabriel, and M Shohat
J Med Genet 1997; 34: 1000-1002. doi:10.1136/jmg.34.12.1000 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity of Meckel syndrome.
J Roume, H W Ma, M Le Merrer, V Cormier-Daire, D Girlich, E Genin, and A Munnich
J Med Genet 1997; 34: 1003-1006. doi:10.1136/jmg.34.12.1003 [Abstract] [PDF] [Request Permissions]

Peutz-Jeghers syndrome.
I P Tomlinson and R S Houlston
J Med Genet 1997; 34: 1007-1011. doi:10.1136/jmg.34.12.1007 [Abstract] [PDF] [Request Permissions]

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.
A Schinzel, L Brecevic, F Dutly, A Baumer, F Binkert, and R H Largo
J Med Genet 1997; 34: 1012-1014. doi:10.1136/jmg.34.12.1012 [Abstract] [PDF] [Request Permissions]

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
D A Campbell, D P McHale, K A Brown, L M Moynihan, M Houseman, G Karbani, G Parry, A H Janjua, V Newton, L al-Gazali, A F Markham, N J Lench, and R F Mueller
J Med Genet 1997; 34: 1015-1017. doi:10.1136/jmg.34.12.1015 [Abstract] [PDF] [Request Permissions]

Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.
J L Tolmie, R Day, B Fredericks, P Galea, and A W Moffett
J Med Genet 1997; 34: 1018-1020. doi:10.1136/jmg.34.12.1018 [Abstract] [PDF] [Request Permissions]

Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?
T Martland, B N Harding, R E Morton, and I Young
J Med Genet 1997; 34: 1021-1023. doi:10.1136/jmg.34.12.1021 [Abstract] [PDF] [Request Permissions]

Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia.
I Meulenbelt, C Bijkerk, F C Breedveld, and P E Slagboom
J Med Genet 1997; 34: 1024-1027. doi:10.1136/jmg.34.12.1024 [Abstract] [PDF] [Request Permissions]

Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation.
Y Mortazavi, R Chopra, E C Gordon-Smith, and T R Rutherford
J Med Genet 1997; 34: 1028-1029. doi:10.1136/jmg.34.12.1028 [Abstract] [PDF] [Request Permissions]

Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
R S James, A J Sharp, A E Cockwell, B Coppin, and P A Jacobs
J Med Genet 1997; 34: 1030-1032. doi:10.1136/jmg.34.12.1030 [Abstract] [PDF] [Request Permissions]

Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.
A E Czeizel and P Göblyös
J Med Genet 1997; 34: 1033-1034. doi:10.1136/jmg.34.12.1033 [Abstract] [PDF] [Request Permissions]

Molecular basis of mild hyperphenylalaninaemia in Poland.
C Zekanowski, M Nowacka, B Cabalska, and J Bal
J Med Genet 1997; 34: 1035-1036. doi:10.1136/jmg.34.12.1035 [Abstract] [PDF] [Request Permissions]

Grebe syndrome: a second case with extremely severe manifestations.
M Rittler and S Higa
J Med Genet 1997; 34: 1038. doi:10.1136/jmg.34.12.1038 [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: 1039. doi:10.1136/jmg.34.12.1039-a [PDF] [Request Permissions]

	Chromosomes Today Thomas Haaf J Med Genet 1997; 34: 1038-1039. doi:10.1136/jmg.34.12.1038-a [PDF] [Request Permissions]

	Genes VI Ann Harris J Med Genet 1997; 34: 1039. doi:10.1136/jmg.34.12.1039 [PDF] [Request Permissions]

	Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach Frances Flinter J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037 [PDF] [Request Permissions]

	Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues Evan Reid J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037-a [PDF] [Request Permissions]

	Medical genetics: advances in brief Evan Reid J Med Genet 1997; 34: 1037. doi:10.1136/jmg.34.12.1037-b [PDF] [Request Permissions]

	An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). C G Sauer, H D Schworm, M Ulbig, A Blankenagel, K Rohrschneider, D Pauleikhoff, T Grimm, and B H Weber J Med Genet 1997; 34: 961-966. doi:10.1136/jmg.34.12.961 [Abstract] [PDF] [Request Permissions]

	Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. M J Seller, J T Behnam, C M Lewis, R L Johnston, M A Burdon, and D J Spalton J Med Genet 1997; 34: 967-972. doi:10.1136/jmg.34.12.967 [Abstract] [PDF] [Request Permissions]

	Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. M Fanin, D J Duggan, M L Mostacciuolo, F Martinello, M P Freda, G Sorarù, C P Trevisan, E P Hoffman, and C Angelini J Med Genet 1997; 34: 973-977. doi:10.1136/jmg.34.12.973 [Abstract] [PDF] [Request Permissions]

	Muscular involvement in the Holt-Oram syndrome. S Spranger, H Ulmer, J Tröger, O Jansen, J Graf, H M Meinck, and M Spranger J Med Genet 1997; 34: 978-981. doi:10.1136/jmg.34.12.978 [Abstract] [PDF] [Request Permissions]

	Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Leggo, A Dalton, P J Morrison, A Dodge, M Connarty, M J Kotze, and D C Rubinsztein J Med Genet 1997; 34: 982-985. doi:10.1136/jmg.34.12.982 [Abstract] [PDF] [Request Permissions]

	Features of DiGeorge syndrome and CHARGE association in five patients. P de Lonlay-Debeney, V Cormier-Daire, J Amiel, V Abadie, S Odent, A Paupe, S Couderc, A L Tellier, D Bonnet, M Prieur, M Vekemans, A Munnich, and S Lyonnet J Med Genet 1997; 34: 986-989. doi:10.1136/jmg.34.12.986 [Abstract] [PDF] [Request Permissions]

	BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients. A M Garvin, M Attenhofer-Haner, and R J Scott J Med Genet 1997; 34: 990-995. doi:10.1136/jmg.34.12.990 [Abstract] [PDF] [Request Permissions]

	Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. E A el-Harith, T Dörk, M Stuhrmann, H Abu-Srair, A al-Shahri, K M Keller, M J Lentze, and J Schmidtke J Med Genet 1997; 34: 996-999. doi:10.1136/jmg.34.12.996 [Abstract] [PDF] [Request Permissions]

	Effects of consanguineous marriage on reproductive outcome in an Arab community in Israel. L Jaber, P Merlob, R Gabriel, and M Shohat J Med Genet 1997; 34: 1000-1002. doi:10.1136/jmg.34.12.1000 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity of Meckel syndrome. J Roume, H W Ma, M Le Merrer, V Cormier-Daire, D Girlich, E Genin, and A Munnich J Med Genet 1997; 34: 1003-1006. doi:10.1136/jmg.34.12.1003 [Abstract] [PDF] [Request Permissions]

	Peutz-Jeghers syndrome. I P Tomlinson and R S Houlston J Med Genet 1997; 34: 1007-1011. doi:10.1136/jmg.34.12.1007 [Abstract] [PDF] [Request Permissions]

	Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation. A Schinzel, L Brecevic, F Dutly, A Baumer, F Binkert, and R H Largo J Med Genet 1997; 34: 1012-1014. doi:10.1136/jmg.34.12.1012 [Abstract] [PDF] [Request Permissions]

	A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. D A Campbell, D P McHale, K A Brown, L M Moynihan, M Houseman, G Karbani, G Parry, A H Janjua, V Newton, L al-Gazali, A F Markham, N J Lench, and R F Mueller J Med Genet 1997; 34: 1015-1017. doi:10.1136/jmg.34.12.1015 [Abstract] [PDF] [Request Permissions]

	Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son. J L Tolmie, R Day, B Fredericks, P Galea, and A W Moffett J Med Genet 1997; 34: 1018-1020. doi:10.1136/jmg.34.12.1018 [Abstract] [PDF] [Request Permissions]

	Dentato-olivary dysplasia in sibs: an autosomal recessive disorder? T Martland, B N Harding, R E Morton, and I Young J Med Genet 1997; 34: 1021-1023. doi:10.1136/jmg.34.12.1021 [Abstract] [PDF] [Request Permissions]

	Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia. I Meulenbelt, C Bijkerk, F C Breedveld, and P E Slagboom J Med Genet 1997; 34: 1024-1027. doi:10.1136/jmg.34.12.1024 [Abstract] [PDF] [Request Permissions]

	Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation. Y Mortazavi, R Chopra, E C Gordon-Smith, and T R Rutherford J Med Genet 1997; 34: 1028-1029. doi:10.1136/jmg.34.12.1028 [Abstract] [PDF] [Request Permissions]

	Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction. R S James, A J Sharp, A E Cockwell, B Coppin, and P A Jacobs J Med Genet 1997; 34: 1030-1032. doi:10.1136/jmg.34.12.1030 [Abstract] [PDF] [Request Permissions]

	Complete situs inversus and broad thumbs and big toes with postaxial polydactyly. A E Czeizel and P Göblyös J Med Genet 1997; 34: 1033-1034. doi:10.1136/jmg.34.12.1033 [Abstract] [PDF] [Request Permissions]

	Molecular basis of mild hyperphenylalaninaemia in Poland. C Zekanowski, M Nowacka, B Cabalska, and J Bal J Med Genet 1997; 34: 1035-1036. doi:10.1136/jmg.34.12.1035 [Abstract] [PDF] [Request Permissions]

	Grebe syndrome: a second case with extremely severe manifestations. M Rittler and S Higa J Med Genet 1997; 34: 1038. doi:10.1136/jmg.34.12.1038 [PDF] [Request Permissions]