J Med Genet -- Table of Contents (30 [1])

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January 1993 (Volume 30, Number 1). [Index by author]

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Miscellaneous

Correction
J Med Genet 1993; 30: 88. doi:10.1136/jmg.30.1.88 [PDF] [Request Permissions]

Abstracts

Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction
Andrew Wilkie
J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85 [PDF] [Request Permissions]

Medical genetics: advances in brief
N S Thakker
J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
John F Harvey
J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
John C K Barber
J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease
W Reardon
J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-d [PDF] [Request Permissions]

Book Reviews

Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping
Peter S Harper
J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87 [PDF] [Request Permissions]

The Cystic Kidney
David Ravine
J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87-a [PDF] [Request Permissions]

Polycystic Kidney Disease
David Ravine
J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87-b [PDF] [Request Permissions]

Research Article

The morbid anatomy of the human genome: chromosomal location of mutations causing disease.
V A McKusick and J S Amberger
J Med Genet 1993; 30: 1-26. doi:10.1136/jmg.30.1.1 [Abstract] [PDF] [Request Permissions]

The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
W G Cole, R K Hall, and J G Rogers
J Med Genet 1993; 30: 27-35. doi:10.1136/jmg.30.1.27 [Abstract] [PDF] [Request Permissions]

Holoprosencephaly: a family showing dominant inheritance and variable expression.
A L Collins, P W Lunt, C Garrett, and N R Dennis
J Med Genet 1993; 30: 36-40. doi:10.1136/jmg.30.1.36 [Abstract] [PDF] [Request Permissions]

Variability of expression in tuberous sclerosis.
H Northrup, J W Wheless, T K Bertin, and R A Lewis
J Med Genet 1993; 30: 41-43. doi:10.1136/jmg.30.1.41 [Abstract] [PDF] [Request Permissions]

Parental age, genetic mutation, and cerebral palsy.
N A Fletcher and J Foley
J Med Genet 1993; 30: 44-46. doi:10.1136/jmg.30.1.44 [Abstract] [PDF] [Request Permissions]

Exclusion of familial dysautonomia from more than 60% of the genome.
A Blumenfeld, F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius, J L Haines, and X O Breakefield
J Med Genet 1993; 30: 47-52. doi:10.1136/jmg.30.1.47 [Abstract] [PDF] [Request Permissions]

Incontinentia pigmenti (Bloch-Sulzberger syndrome).
S J Landy and D Donnai
J Med Genet 1993; 30: 53-59. doi:10.1136/jmg.30.1.53 [PDF] [Request Permissions]

The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.
B A Neilan, D A Leigh, and B L McDonald
J Med Genet 1993; 30: 60-61. doi:10.1136/jmg.30.1.60 [Abstract] [PDF] [Request Permissions]

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
T I Farag, S A al-Awadi, M J Marafie, L Bastaki, S A al-Othman, F M Mohammed, I S AlSuliman, and D S Murthy
J Med Genet 1993; 30: 62-64. doi:10.1136/jmg.30.1.62 [Abstract] [PDF] [Request Permissions]

Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
G Camera, G Ferraiolo, D Leo, A Spaziale, and S Pozzolo
J Med Genet 1993; 30: 65-69. doi:10.1136/jmg.30.1.65 [Abstract] [PDF] [Request Permissions]

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
J W Dixon, T Costa, and I E Teshima
J Med Genet 1993; 30: 70-72. doi:10.1136/jmg.30.1.70 [Abstract] [PDF] [Request Permissions]

Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
G Valkova and M Stefanova
J Med Genet 1993; 30: 73-75. doi:10.1136/jmg.30.1.73 [Abstract] [PDF] [Request Permissions]

Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?
K Méhes
J Med Genet 1993; 30: 76-77. doi:10.1136/jmg.30.1.76 [Abstract] [PDF] [Request Permissions]

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
C T Schrander-Stumpel, C J Höweler, A D Reekers, N M De Smet, J G Hall, and J P Fryns
J Med Genet 1993; 30: 78-80. doi:10.1136/jmg.30.1.78 [Abstract] [PDF] [Request Permissions]

Humeroradioulnar synostosis in a patient with lambdoid synostosis.
T J Edwards, E A Haan, and I J Humphrey
J Med Genet 1993; 30: 81-82. doi:10.1136/jmg.30.1.81 [Abstract] [PDF] [Request Permissions]

Waardenburg syndrome and myelomeningocele in a family.
S Chatkupt, S Chatkupt, and W G Johnson
J Med Genet 1993; 30: 83-84. doi:10.1136/jmg.30.1.83 [Abstract] [PDF] [Request Permissions]

Another example favouring the location of BPES at 3q2.
J C de Almeida, J C Llerena Júnior, J B Gonçalves Neto, M Jung, and R R Martins
J Med Genet 1993; 30: 86. doi:10.1136/jmg.30.1.86 [PDF] [Request Permissions]

A new approach to prenatal cystic fibrosis carrier screening.
Z Miedzybrodzka, N Haites, and J Dean
J Med Genet 1993; 30: 86. doi:10.1136/jmg.30.1.86-a [PDF] [Request Permissions]

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	Correction J Med Genet 1993; 30: 88. doi:10.1136/jmg.30.1.88 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction Andrew Wilkie J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85 [PDF] [Request Permissions]

	Medical genetics: advances in brief N S Thakker J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts John F Harvey J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene John C K Barber J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease W Reardon J Med Genet 1993; 30: 85. doi:10.1136/jmg.30.1.85-d [PDF] [Request Permissions]

	Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping Peter S Harper J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87 [PDF] [Request Permissions]

	The Cystic Kidney David Ravine J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87-a [PDF] [Request Permissions]

	Polycystic Kidney Disease David Ravine J Med Genet 1993; 30: 87. doi:10.1136/jmg.30.1.87-b [PDF] [Request Permissions]

	The morbid anatomy of the human genome: chromosomal location of mutations causing disease. V A McKusick and J S Amberger J Med Genet 1993; 30: 1-26. doi:10.1136/jmg.30.1.1 [Abstract] [PDF] [Request Permissions]

	The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. W G Cole, R K Hall, and J G Rogers J Med Genet 1993; 30: 27-35. doi:10.1136/jmg.30.1.27 [Abstract] [PDF] [Request Permissions]

	Holoprosencephaly: a family showing dominant inheritance and variable expression. A L Collins, P W Lunt, C Garrett, and N R Dennis J Med Genet 1993; 30: 36-40. doi:10.1136/jmg.30.1.36 [Abstract] [PDF] [Request Permissions]

	Variability of expression in tuberous sclerosis. H Northrup, J W Wheless, T K Bertin, and R A Lewis J Med Genet 1993; 30: 41-43. doi:10.1136/jmg.30.1.41 [Abstract] [PDF] [Request Permissions]

	Parental age, genetic mutation, and cerebral palsy. N A Fletcher and J Foley J Med Genet 1993; 30: 44-46. doi:10.1136/jmg.30.1.44 [Abstract] [PDF] [Request Permissions]

	Exclusion of familial dysautonomia from more than 60% of the genome. A Blumenfeld, F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius, J L Haines, and X O Breakefield J Med Genet 1993; 30: 47-52. doi:10.1136/jmg.30.1.47 [Abstract] [PDF] [Request Permissions]

	Incontinentia pigmenti (Bloch-Sulzberger syndrome). S J Landy and D Donnai J Med Genet 1993; 30: 53-59. doi:10.1136/jmg.30.1.53 [PDF] [Request Permissions]

	The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility. B A Neilan, D A Leigh, and B L McDonald J Med Genet 1993; 30: 60-61. doi:10.1136/jmg.30.1.60 [Abstract] [PDF] [Request Permissions]

	The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. T I Farag, S A al-Awadi, M J Marafie, L Bastaki, S A al-Othman, F M Mohammed, I S AlSuliman, and D S Murthy J Med Genet 1993; 30: 62-64. doi:10.1136/jmg.30.1.62 [Abstract] [PDF] [Request Permissions]

	Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. G Camera, G Ferraiolo, D Leo, A Spaziale, and S Pozzolo J Med Genet 1993; 30: 65-69. doi:10.1136/jmg.30.1.65 [Abstract] [PDF] [Request Permissions]

	Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant. J W Dixon, T Costa, and I E Teshima J Med Genet 1993; 30: 70-72. doi:10.1136/jmg.30.1.70 [Abstract] [PDF] [Request Permissions]

	Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q. G Valkova and M Stefanova J Med Genet 1993; 30: 73-75. doi:10.1136/jmg.30.1.73 [Abstract] [PDF] [Request Permissions]

	Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome? K Méhes J Med Genet 1993; 30: 76-77. doi:10.1136/jmg.30.1.76 [Abstract] [PDF] [Request Permissions]

	Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. C T Schrander-Stumpel, C J Höweler, A D Reekers, N M De Smet, J G Hall, and J P Fryns J Med Genet 1993; 30: 78-80. doi:10.1136/jmg.30.1.78 [Abstract] [PDF] [Request Permissions]

	Humeroradioulnar synostosis in a patient with lambdoid synostosis. T J Edwards, E A Haan, and I J Humphrey J Med Genet 1993; 30: 81-82. doi:10.1136/jmg.30.1.81 [Abstract] [PDF] [Request Permissions]

	Waardenburg syndrome and myelomeningocele in a family. S Chatkupt, S Chatkupt, and W G Johnson J Med Genet 1993; 30: 83-84. doi:10.1136/jmg.30.1.83 [Abstract] [PDF] [Request Permissions]

	Another example favouring the location of BPES at 3q2. J C de Almeida, J C Llerena Júnior, J B Gonçalves Neto, M Jung, and R R Martins J Med Genet 1993; 30: 86. doi:10.1136/jmg.30.1.86 [PDF] [Request Permissions]

	A new approach to prenatal cystic fibrosis carrier screening. Z Miedzybrodzka, N Haites, and J Dean J Med Genet 1993; 30: 86. doi:10.1136/jmg.30.1.86-a [PDF] [Request Permissions]