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October 1993 (Volume 30, Number 10). [Index by author]

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Abstracts

Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
Andrew Wilkie
J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885 [PDF] [Request Permissions]

Medical genetics: advances in brief
N S Thakker
J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Charcot-Marie-Tooth disease type 1A: association with a spontaneous mutation in the PMP22 gene
Andrew Norman
J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Twin studies in medical research: can they tell us whether diseases are genetically determined?
Willie Reardon
J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-c [PDF] [Request Permissions]

Medical genetics: advances in brief
N S Thakker
J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-d [PDF] [Request Permissions]

Book Reviews

The Dynamic Genome - Barbara McClintock's Ideas in the Century of Genetics
Andrew P Read
J Med Genet 1993; 30: 887. doi:10.1136/jmg.30.10.887 [PDF] [Request Permissions]

Cystic Fibrosis and DNA Tests: Implications of Carrier Screening
J A Raeburn
J Med Genet 1993; 30: 887-888. doi:10.1136/jmg.30.10.887-a [PDF] [Request Permissions]

Isolation, Migration and Health
A H Bittles
J Med Genet 1993; 30: 888. doi:10.1136/jmg.30.10.888 [PDF] [Request Permissions]

Epidemiology and Control of Neural Tube Defects
Mary J Seller
J Med Genet 1993; 30: 888. doi:10.1136/jmg.30.10.888-a [PDF] [Request Permissions]

Research Article

CATCH 22.
J G Hall
J Med Genet 1993; 30: 801-802. doi:10.1136/jmg.30.10.801 [PDF] [Request Permissions]

DiGeorge syndrome: an historical review of clinical and cytogenetic features.
F Greenberg
J Med Genet 1993; 30: 803-806. doi:10.1136/jmg.30.10.803 [PDF] [Request Permissions]

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
E Goldmuntz, D Driscoll, M L Budarf, E H Zackai, D M McDonald-McGinn, J A Biegel, and B S Emanuel
J Med Genet 1993; 30: 807-812. doi:10.1136/jmg.30.10.807 [Abstract] [PDF] [Request Permissions]

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
D A Driscoll, J Salvin, B Sellinger, M L Budarf, D M McDonald-McGinn, E H Zackai, and B S Emanuel
J Med Genet 1993; 30: 813-817. doi:10.1136/jmg.30.10.813 [Abstract] [PDF] [Request Permissions]

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
R Wadey, S Daw, A Wickremasinghe, C Roberts, D Wilson, J Goodship, J Burn, S Halford, and P J Scambler
J Med Genet 1993; 30: 818-821. doi:10.1136/jmg.30.10.818 [Abstract] [PDF] [Request Permissions]

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, and J Goodship
J Med Genet 1993; 30: 822-824. doi:10.1136/jmg.30.10.822 [Abstract] [PDF] [Request Permissions]

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
S E Holder, R M Winter, S Kamath, and P J Scambler
J Med Genet 1993; 30: 825-827. doi:10.1136/jmg.30.10.825 [Abstract] [PDF] [Request Permissions]

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
D F Callen, H Eyre, S Lane, Y Shen, I Hansmann, N Spinner, E Zackai, D McDonald-McGinn, S Schuffenhauer, and J Wauters
J Med Genet 1993; 30: 828-832. doi:10.1136/jmg.30.10.828 [Abstract] [PDF] [Request Permissions]

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
K Will, J Reiss, M Dean, M Schlösser, R Slomski, J Schmidtke, and M Stuhrmann
J Med Genet 1993; 30: 833-837. doi:10.1136/jmg.30.10.833 [Abstract] [PDF] [Request Permissions]

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
A Meindl, D Hosenfeld, W Brückl, S Schuffenhauer, J Jenderny, A Bacskulin, H C Oppermann, O Swensson, P Bouloux, and T Meitinger
J Med Genet 1993; 30: 838-842. doi:10.1136/jmg.30.10.838 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity of Usher syndrome type II.
S Pieke Dahl, W J Kimberling, M B Gorin, M D Weston, J M Furman, A Pikus, and C Möller
J Med Genet 1993; 30: 843-848. doi:10.1136/jmg.30.10.843 [Abstract] [PDF] [Request Permissions]

Upper and lower neural tube defects: an alternate hypothesis.
B H Garabedian and F C Fraser
J Med Genet 1993; 30: 849-851. doi:10.1136/jmg.30.10.849 [Abstract] [PDF] [Request Permissions]

DiGeorge syndrome: part of CATCH 22.
D I Wilson, J Burn, P Scambler, and J Goodship
J Med Genet 1993; 30: 852-856. doi:10.1136/jmg.30.10.852 [Abstract] [PDF] [Request Permissions]

Disease gene mapping in isolated human populations: the example of Finland.
A de la Chapelle
J Med Genet 1993; 30: 857-865. doi:10.1136/jmg.30.10.857 [PDF] [Request Permissions]

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, and G Neri
J Med Genet 1993; 30: 866-869. doi:10.1136/jmg.30.10.866 [Abstract] [PDF] [Request Permissions]

Orofaciodigital syndrome type III in two sibs.
R A Smith and D Gardner-Medwin
J Med Genet 1993; 30: 870-872. doi:10.1136/jmg.30.10.870 [Abstract] [PDF] [Request Permissions]

Sex linked valvular dysplasia.
R A Newbury-Ecob, J M Zuccollo, N Rutter, and I D Young
J Med Genet 1993; 30: 873-874. doi:10.1136/jmg.30.10.873 [Abstract] [PDF] [Request Permissions]

Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.
M Schulman, M T Gonzalez, and M R Bye
J Med Genet 1993; 30: 875-876. doi:10.1136/jmg.30.10.875 [Abstract] [PDF] [Request Permissions]

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.
D Sperli, D Concolino, C Barbato, P Strisciuglio, and G Andria
J Med Genet 1993; 30: 877-879. doi:10.1136/jmg.30.10.877 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasia.
L K Weyerts, V Catanzarite, M C Jones, and A Mendoza
J Med Genet 1993; 30: 880-882. doi:10.1136/jmg.30.10.880 [Abstract] [PDF] [Request Permissions]

Severe developmental delay and multiple strawberry naevi: a new syndrome?
C J Upton and I D Young
J Med Genet 1993; 30: 883-884. doi:10.1136/jmg.30.10.883 [Abstract] [PDF] [Request Permissions]

Chromosome abnormalities and Williams-Beuren syndrome.
A Gosch and R Pankau
J Med Genet 1993; 30: 886. doi:10.1136/jmg.30.10.886 [PDF] [Request Permissions]

Counselling pitfalls in Romano-Ward syndrome.
J C Dean, S Cross, and K Jennings
J Med Genet 1993; 30: 886. doi:10.1136/jmg.30.10.886-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Andrew Wilkie J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885 [PDF] [Request Permissions]

	Medical genetics: advances in brief N S Thakker J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-a [PDF] [Request Permissions]

	*Medical genetics: advances in brief: Charcot-Marie-Tooth disease type 1A: association with a spontaneous mutation in the PMP22* gene** Andrew Norman J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Twin studies in medical research: can they tell us whether diseases are genetically determined? Willie Reardon J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-c [PDF] [Request Permissions]

	Medical genetics: advances in brief N S Thakker J Med Genet 1993; 30: 885. doi:10.1136/jmg.30.10.885-d [PDF] [Request Permissions]

	The Dynamic Genome - Barbara McClintock's Ideas in the Century of Genetics Andrew P Read J Med Genet 1993; 30: 887. doi:10.1136/jmg.30.10.887 [PDF] [Request Permissions]

	Cystic Fibrosis and DNA Tests: Implications of Carrier Screening J A Raeburn J Med Genet 1993; 30: 887-888. doi:10.1136/jmg.30.10.887-a [PDF] [Request Permissions]

	Isolation, Migration and Health A H Bittles J Med Genet 1993; 30: 888. doi:10.1136/jmg.30.10.888 [PDF] [Request Permissions]

	Epidemiology and Control of Neural Tube Defects Mary J Seller J Med Genet 1993; 30: 888. doi:10.1136/jmg.30.10.888-a [PDF] [Request Permissions]

	CATCH 22. J G Hall J Med Genet 1993; 30: 801-802. doi:10.1136/jmg.30.10.801 [PDF] [Request Permissions]

	DiGeorge syndrome: an historical review of clinical and cytogenetic features. F Greenberg J Med Genet 1993; 30: 803-806. doi:10.1136/jmg.30.10.803 [PDF] [Request Permissions]

	Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. E Goldmuntz, D Driscoll, M L Budarf, E H Zackai, D M McDonald-McGinn, J A Biegel, and B S Emanuel J Med Genet 1993; 30: 807-812. doi:10.1136/jmg.30.10.807 [Abstract] [PDF] [Request Permissions]

	Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. D A Driscoll, J Salvin, B Sellinger, M L Budarf, D M McDonald-McGinn, E H Zackai, and B S Emanuel J Med Genet 1993; 30: 813-817. doi:10.1136/jmg.30.10.813 [Abstract] [PDF] [Request Permissions]

	Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). R Wadey, S Daw, A Wickremasinghe, C Roberts, D Wilson, J Goodship, J Burn, S Halford, and P J Scambler J Med Genet 1993; 30: 818-821. doi:10.1136/jmg.30.10.818 [Abstract] [PDF] [Request Permissions]

	Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, and J Goodship J Med Genet 1993; 30: 822-824. doi:10.1136/jmg.30.10.822 [Abstract] [PDF] [Request Permissions]

	Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. S E Holder, R M Winter, S Kamath, and P J Scambler J Med Genet 1993; 30: 825-827. doi:10.1136/jmg.30.10.825 [Abstract] [PDF] [Request Permissions]

	High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. D F Callen, H Eyre, S Lane, Y Shen, I Hansmann, N Spinner, E Zackai, D McDonald-McGinn, S Schuffenhauer, and J Wauters J Med Genet 1993; 30: 828-832. doi:10.1136/jmg.30.10.828 [Abstract] [PDF] [Request Permissions]

	CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. K Will, J Reiss, M Dean, M Schlösser, R Slomski, J Schmidtke, and M Stuhrmann J Med Genet 1993; 30: 833-837. doi:10.1136/jmg.30.10.833 [Abstract] [PDF] [Request Permissions]

	Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. A Meindl, D Hosenfeld, W Brückl, S Schuffenhauer, J Jenderny, A Bacskulin, H C Oppermann, O Swensson, P Bouloux, and T Meitinger J Med Genet 1993; 30: 838-842. doi:10.1136/jmg.30.10.838 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity of Usher syndrome type II. S Pieke Dahl, W J Kimberling, M B Gorin, M D Weston, J M Furman, A Pikus, and C Möller J Med Genet 1993; 30: 843-848. doi:10.1136/jmg.30.10.843 [Abstract] [PDF] [Request Permissions]

	Upper and lower neural tube defects: an alternate hypothesis. B H Garabedian and F C Fraser J Med Genet 1993; 30: 849-851. doi:10.1136/jmg.30.10.849 [Abstract] [PDF] [Request Permissions]

	DiGeorge syndrome: part of CATCH 22. D I Wilson, J Burn, P Scambler, and J Goodship J Med Genet 1993; 30: 852-856. doi:10.1136/jmg.30.10.852 [Abstract] [PDF] [Request Permissions]

	Disease gene mapping in isolated human populations: the example of Finland. A de la Chapelle J Med Genet 1993; 30: 857-865. doi:10.1136/jmg.30.10.857 [PDF] [Request Permissions]

	Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, and G Neri J Med Genet 1993; 30: 866-869. doi:10.1136/jmg.30.10.866 [Abstract] [PDF] [Request Permissions]

	Orofaciodigital syndrome type III in two sibs. R A Smith and D Gardner-Medwin J Med Genet 1993; 30: 870-872. doi:10.1136/jmg.30.10.870 [Abstract] [PDF] [Request Permissions]

	Sex linked valvular dysplasia. R A Newbury-Ecob, J M Zuccollo, N Rutter, and I D Young J Med Genet 1993; 30: 873-874. doi:10.1136/jmg.30.10.873 [Abstract] [PDF] [Request Permissions]

	Airway abnormalities in Jarcho-Levin syndrome: a report of two cases. M Schulman, M T Gonzalez, and M R Bye J Med Genet 1993; 30: 875-876. doi:10.1136/jmg.30.10.875 [Abstract] [PDF] [Request Permissions]

	Long survival of a patient with Marshall-Smith syndrome without respiratory complications. D Sperli, D Concolino, C Barbato, P Strisciuglio, and G Andria J Med Genet 1993; 30: 877-879. doi:10.1136/jmg.30.10.877 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasia. L K Weyerts, V Catanzarite, M C Jones, and A Mendoza J Med Genet 1993; 30: 880-882. doi:10.1136/jmg.30.10.880 [Abstract] [PDF] [Request Permissions]

	Severe developmental delay and multiple strawberry naevi: a new syndrome? C J Upton and I D Young J Med Genet 1993; 30: 883-884. doi:10.1136/jmg.30.10.883 [Abstract] [PDF] [Request Permissions]

	Chromosome abnormalities and Williams-Beuren syndrome. A Gosch and R Pankau J Med Genet 1993; 30: 886. doi:10.1136/jmg.30.10.886 [PDF] [Request Permissions]

	Counselling pitfalls in Romano-Ward syndrome. J C Dean, S Cross, and K Jennings J Med Genet 1993; 30: 886. doi:10.1136/jmg.30.10.886-a [PDF] [Request Permissions]