J Med Genet -- Table of Contents (32 [1])

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January 1995 (Volume 32, Number 1). [Index by author]

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Abstracts

Medical genetics: advances in brief: Rapid direct diagnosis of deletion carriers of Duchenne and Becker muscular dystrophies
Angela Barnicoat
J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75 [PDF] [Request Permissions]

Medical genetics: advances in brief: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
Frances Flinter
J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75-a [PDF] [Request Permissions]

Medical genetics: advances in brief: A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
David Ravine
J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75-b [PDF] [Request Permissions]

Medical genetics: advances in brief
John C K Barber
J Med Genet 1995; 32: 75-76. doi:10.1136/jmg.32.1.75-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
J Gray
J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76 [PDF] [Request Permissions]

Medical genetics: advances in brief: Myophosphorylase deficiency: an unusually severe form with myoglobinuria
Jill Clayton-Smith
J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutation analysis in patients with possible but apparently sporadic Huntington's disease
Angela Barnicoat
J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76-b [PDF] [Request Permissions]

Book Review

Human Population Genetics: A Centennial Tribute to J B S Haldane
D F Roberts
J Med Genet 1995; 32: 79-80. doi:10.1136/jmg.32.1.79 [PDF] [Request Permissions]

Research Article

Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
C M Kielty, S J Davies, J E Phillips, C J Jones, C A Shuttleworth, and S J Charles
J Med Genet 1995; 32: 1-6. doi:10.1136/jmg.32.1.1 [Abstract] [PDF] [Request Permissions]

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.
L I al-Gazali, A H Dawodu, K Sabarinathan, and M Varghese
J Med Genet 1995; 32: 7-13. doi:10.1136/jmg.32.1.7 [Abstract] [PDF] [Request Permissions]

Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.
M R Passos-Bueno, A Cerqueira, M Vainzof, S K Marie, and M Zatz
J Med Genet 1995; 32: 14-18. doi:10.1136/jmg.32.1.14 [Abstract] [PDF] [Request Permissions]

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.
M Warburg, M Bugge, and K Brøndum-Nielsen
J Med Genet 1995; 32: 19-24. doi:10.1136/jmg.32.1.19 [Abstract] [PDF] [Request Permissions]

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
E C Twist, L K Casaubon, M H Ruttledge, V S Rao, P M Macleod, J Radvany, Z Zhao, R N Rosenberg, L A Farrer, and G A Rouleau
J Med Genet 1995; 32: 25-31. doi:10.1136/jmg.32.1.25 [Abstract] [PDF] [Request Permissions]

Difference in constitutive heterochromatin behaviour between human amniocytes and lymphocytes detected by a sequential in situ exonuclease III digestion-random primer extension procedure.
J L Fernández, A Campos, C López-Fernández, J Gosálvez, and V Goyanes
J Med Genet 1995; 32: 32-35. doi:10.1136/jmg.32.1.32 [Abstract] [PDF] [Request Permissions]

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
K Vuopala, P Mäkelä-Bengs, A Suomalainen, R Herva, J Leisti, and L Peltonen
J Med Genet 1995; 32: 36-38. doi:10.1136/jmg.32.1.36 [Abstract] [PDF] [Request Permissions]

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, and I Kaitila
J Med Genet 1995; 32: 39-43. doi:10.1136/jmg.32.1.39 [PDF] [Request Permissions]

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
R H Boerman, R A Ophoff, T P Links, R van Eijk, L A Sandkuijl, A Elbaz, J E Vale-Santos, A R Wintzen, J C van Deutekom, and D E Isles
J Med Genet 1995; 32: 44-47. doi:10.1136/jmg.32.1.44 [Abstract] [PDF] [Request Permissions]

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
L Florentin, A Mavrou, K Kekou, and C Metaxotou
J Med Genet 1995; 32: 48-51. doi:10.1136/jmg.32.1.48 [Abstract] [PDF] [Request Permissions]

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
F A Hol, B C Hamel, M P Geurds, R A Mullaart, F G Barr, R A Macina, and E C Mariman
J Med Genet 1995; 32: 52-56. doi:10.1136/jmg.32.1.52 [Abstract] [PDF] [Request Permissions]

Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity.
D St Clair, J Bolt, S Morris, and D Doyle
J Med Genet 1995; 32: 57-60. doi:10.1136/jmg.32.1.57 [Abstract] [PDF] [Request Permissions]

Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites.
G W Smith, C A Graham, J Nevin, and N C Nevin
J Med Genet 1995; 32: 61-64. doi:10.1136/jmg.32.1.61 [Abstract] [PDF] [Request Permissions]

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
W el-Rifai, J Leisti, M Kähkönen, A Pietarinen, M R Altherr, and S Knuutila
J Med Genet 1995; 32: 65-67. doi:10.1136/jmg.32.1.65 [Abstract] [PDF] [Request Permissions]

Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
D Horn, F Majewski, B Hildebrandt, and H Körner
J Med Genet 1995; 32: 68-71. doi:10.1136/jmg.32.1.68 [Abstract] [PDF] [Request Permissions]

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
A Giannotti, M C Digilio, R Mingarelli, and B Dallapiccola
J Med Genet 1995; 32: 72-74. doi:10.1136/jmg.32.1.72 [Abstract] [PDF] [Request Permissions]

A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
Y Ohashi, S Tsuchiya, and T Konno
J Med Genet 1995; 32: 77-78. doi:10.1136/jmg.32.1.77 [PDF] [Request Permissions]

Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families.
J D Stein, J T Hecht, and S H Blanton
J Med Genet 1995; 32: 78. doi:10.1136/jmg.32.1.78 [PDF] [Request Permissions]

Further report of a patient with humeroradioulnar synostosis and hydronephrosis.
R Boy, D Horovitz, F R Vargas, J G Barbosa Neto, J C Llerena Júnior, and J C Almeida
J Med Genet 1995; 32: 78-79. doi:10.1136/jmg.32.1.78-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Rapid direct diagnosis of deletion carriers of Duchenne and Becker muscular dystrophies Angela Barnicoat J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75 [PDF] [Request Permissions]

	Medical genetics: advances in brief: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation Frances Flinter J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations David Ravine J Med Genet 1995; 32: 75. doi:10.1136/jmg.32.1.75-b [PDF] [Request Permissions]

	Medical genetics: advances in brief John C K Barber J Med Genet 1995; 32: 75-76. doi:10.1136/jmg.32.1.75-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity J Gray J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Myophosphorylase deficiency: an unusually severe form with myoglobinuria Jill Clayton-Smith J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutation analysis in patients with possible but apparently sporadic Huntington's disease Angela Barnicoat J Med Genet 1995; 32: 76. doi:10.1136/jmg.32.1.76-b [PDF] [Request Permissions]

	Human Population Genetics: A Centennial Tribute to J B S Haldane D F Roberts J Med Genet 1995; 32: 79-80. doi:10.1136/jmg.32.1.79 [PDF] [Request Permissions]

	Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects. C M Kielty, S J Davies, J E Phillips, C J Jones, C A Shuttleworth, and S J Charles J Med Genet 1995; 32: 1-6. doi:10.1136/jmg.32.1.1 [Abstract] [PDF] [Request Permissions]

	The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. L I al-Gazali, A H Dawodu, K Sabarinathan, and M Varghese J Med Genet 1995; 32: 7-13. doi:10.1136/jmg.32.1.7 [Abstract] [PDF] [Request Permissions]

	Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. M R Passos-Bueno, A Cerqueira, M Vainzof, S K Marie, and M Zatz J Med Genet 1995; 32: 14-18. doi:10.1136/jmg.32.1.14 [Abstract] [PDF] [Request Permissions]

	Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. M Warburg, M Bugge, and K Brøndum-Nielsen J Med Genet 1995; 32: 19-24. doi:10.1136/jmg.32.1.19 [Abstract] [PDF] [Request Permissions]

	Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. E C Twist, L K Casaubon, M H Ruttledge, V S Rao, P M Macleod, J Radvany, Z Zhao, R N Rosenberg, L A Farrer, and G A Rouleau J Med Genet 1995; 32: 25-31. doi:10.1136/jmg.32.1.25 [Abstract] [PDF] [Request Permissions]

	Difference in constitutive heterochromatin behaviour between human amniocytes and lymphocytes detected by a sequential in situ exonuclease III digestion-random primer extension procedure. J L Fernández, A Campos, C López-Fernández, J Gosálvez, and V Goyanes J Med Genet 1995; 32: 32-35. doi:10.1136/jmg.32.1.32 [Abstract] [PDF] [Request Permissions]

	Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. K Vuopala, P Mäkelä-Bengs, A Suomalainen, R Herva, J Leisti, and L Peltonen J Med Genet 1995; 32: 36-38. doi:10.1136/jmg.32.1.36 [Abstract] [PDF] [Request Permissions]

	Cartilage-hair hypoplasia. O Mäkitie, T Sulisalo, A de la Chapelle, and I Kaitila J Med Genet 1995; 32: 39-43. doi:10.1136/jmg.32.1.39 [PDF] [Request Permissions]

	Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. R H Boerman, R A Ophoff, T P Links, R van Eijk, L A Sandkuijl, A Elbaz, J E Vale-Santos, A R Wintzen, J C van Deutekom, and D E Isles J Med Genet 1995; 32: 44-47. doi:10.1136/jmg.32.1.44 [Abstract] [PDF] [Request Permissions]

	Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. L Florentin, A Mavrou, K Kekou, and C Metaxotou J Med Genet 1995; 32: 48-51. doi:10.1136/jmg.32.1.48 [Abstract] [PDF] [Request Permissions]

	A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. F A Hol, B C Hamel, M P Geurds, R A Mullaart, F G Barr, R A Macina, and E C Mariman J Med Genet 1995; 32: 52-56. doi:10.1136/jmg.32.1.52 [Abstract] [PDF] [Request Permissions]

	Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity. D St Clair, J Bolt, S Morris, and D Doyle J Med Genet 1995; 32: 57-60. doi:10.1136/jmg.32.1.57 [Abstract] [PDF] [Request Permissions]

	Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. G W Smith, C A Graham, J Nevin, and N C Nevin J Med Genet 1995; 32: 61-64. doi:10.1136/jmg.32.1.61 [Abstract] [PDF] [Request Permissions]

	A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. W el-Rifai, J Leisti, M Kähkönen, A Pietarinen, M R Altherr, and S Knuutila J Med Genet 1995; 32: 65-67. doi:10.1136/jmg.32.1.65 [Abstract] [PDF] [Request Permissions]

	Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. D Horn, F Majewski, B Hildebrandt, and H Körner J Med Genet 1995; 32: 68-71. doi:10.1136/jmg.32.1.68 [Abstract] [PDF] [Request Permissions]

	An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A Giannotti, M C Digilio, R Mingarelli, and B Dallapiccola J Med Genet 1995; 32: 72-74. doi:10.1136/jmg.32.1.72 [Abstract] [PDF] [Request Permissions]

	A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia. Y Ohashi, S Tsuchiya, and T Konno J Med Genet 1995; 32: 77-78. doi:10.1136/jmg.32.1.77 [PDF] [Request Permissions]

	Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families. J D Stein, J T Hecht, and S H Blanton J Med Genet 1995; 32: 78. doi:10.1136/jmg.32.1.78 [PDF] [Request Permissions]

	Further report of a patient with humeroradioulnar synostosis and hydronephrosis. R Boy, D Horovitz, F R Vargas, J G Barbosa Neto, J C Llerena Júnior, and J C Almeida J Med Genet 1995; 32: 78-79. doi:10.1136/jmg.32.1.78-a [PDF] [Request Permissions]