Congenital Chromosome Aberrations and Tumor Predisposition
Erika L D Mitchell
J Med Genet 1992; 29: 141. doi:10.1136/jmg.29.2.141-c
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Aspects of Oral Molecular Biology
M J Aldred
J Med Genet 1992; 29: 141-142. doi:10.1136/jmg.29.2.141-d
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Advanced Techniques in Chromosome Research
John Gosden
J Med Genet 1992; 29: 142. doi:10.1136/jmg.29.2.142
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Therapy for Genetic Disease
Alan Emery
J Med Genet 1992; 29: 142-143. doi:10.1136/jmg.29.2.142-a
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Genetics and Human Nutrition
Ruth Morgan
J Med Genet 1992; 29: 143. doi:10.1136/jmg.29.2.143
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Jablonski's Dictionary of Syndromes and Eponymic Diseases
Peter S Harper
J Med Genet 1992; 29: 143. doi:10.1136/jmg.29.2.143-a
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The Diffusion Of Four Prenatal Screening Tests Across Europe
R F Mueller
J Med Genet 1992; 29: 143. doi:10.1136/jmg.29.2.143-b
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The New Genetics and Clinical Practice
Peter S Harper
J Med Genet 1992; 29: 143-144. doi:10.1136/jmg.29.2.143-c
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London Neurogenetics Database
Sarah Bundey
J Med Genet 1992; 29: 144. doi:10.1136/jmg.29.2.144
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Comments on important genetic topics from papers in other journals: The molecular basis of the undulated/Pax-1 mutation
Andrew Read
J Med Genet 1992; 29: 138. doi:10.1136/jmg.29.2.138
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Comments on important genetic topics from papers in other journals: Obstructive sleep apnoea in children with Down syndrome
David Fitzpatrick
J Med Genet 1992; 29: 138. doi:10.1136/jmg.29.2.138-a
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Comments on important genetic topics from papers in other journals: Prospects for homologous recombination in human gene therapy
J C K Barber
J Med Genet 1992; 29: 138. doi:10.1136/jmg.29.2.138-b
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Comments on important genetic topics from papers in other journals: Review of neonatal screening programme for phenylketonuria
A M Norman
J Med Genet 1992; 29: 138. doi:10.1136/jmg.29.2.138-c
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Comments on important genetic topics from papers in other journals: GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
Andrew Wilkie
J Med Genet 1992; 29: 138. doi:10.1136/jmg.29.2.138-d
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Comments on important genetic topics from papers in other journals: Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat
N S Thakker
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139
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Comments on important genetic topics from papers in other journals: Non-paternity and prenatal genetic screening
W Reardon
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139-a
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Comments on important genetic topics from papers in other journals: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
Andrew Wilkie
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139-b
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Comments on important genetic topics from papers in other journals: The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
John C K Barber
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139-c
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Comments on important genetic topics from papers in other journals: Localisation of the gene encoding the GABAa receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15
T R P Cole
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139-d
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Comments on important genetic topics from papers in other journals: Association of nm23-H1 allelic deletions with distant metastases in colorectal carcinoma
W Reardon
J Med Genet 1992; 29: 139. doi:10.1136/jmg.29.2.139-e
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Marfan syndrome: a mystery solved.
P Tsipouras
J Med Genet 1992; 29: 73-74. doi:10.1136/jmg.29.2.73
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A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
M Sarfarazi, P Tsipouras, R Del Mastro, M Kilpatrick, P Farndon, M Boxer, A Bridges, C Boileau, C Junien, and C Hayward
J Med Genet 1992; 29: 75-80. doi:10.1136/jmg.29.2.75
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Marfan syndrome in a large family: response of family members to a screening programme.
A B Bridges, M Faed, M Boxer, J R Gray, C Bundy, and A Murray
J Med Genet 1992; 29: 81-85. doi:10.1136/jmg.29.2.81
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Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
L Jaber, M Shohat, X Bu, N Fischel-Ghodsian, H Y Yang, S J Wang, and J I Rotter
J Med Genet 1992; 29: 86-90. doi:10.1136/jmg.29.2.86
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Fetal hydrops.
P A Boyd and J W Keeling
J Med Genet 1992; 29: 91-97. doi:10.1136/jmg.29.2.91
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Chromosome in situ suppression hybridisation in human male meiosis.
A S Goldman and M A Hultén
J Med Genet 1992; 29: 98-102. doi:10.1136/jmg.29.2.98
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Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.
P A Jacobs, C Browne, N Gregson, C Joyce, and H White
J Med Genet 1992; 29: 103-108. doi:10.1136/jmg.29.2.103
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Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems.
S Pariani, M Buscaglia, M Piantanida, and G Simoni
J Med Genet 1992; 29: 109-111. doi:10.1136/jmg.29.2.109
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The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
W G Cole, E Patterson, J Bonadio, P E Campbell, and D W Fortune
J Med Genet 1992; 29: 112-118. doi:10.1136/jmg.29.2.112
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The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.
H E Henderson, F Hassan, G M Berger, and M R Hayden
J Med Genet 1992; 29: 119-122. doi:10.1136/jmg.29.2.119
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Multiple mutation in an extended Duchenne muscular dystrophy family.
A Miciak, A Keen, D Jadayel, and S Bundey
J Med Genet 1992; 29: 123-126. doi:10.1136/jmg.29.2.123
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Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
L Vitiello, M L Mostacciuolo, S Oliviero, F Schiavon, L Nicoletti, C Angelini, and G A Danieli
J Med Genet 1992; 29: 127-130. doi:10.1136/jmg.29.2.127
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Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
I Lerer, M Sagi, G R Cutting, and D Abeliovich
J Med Genet 1992; 29: 131-133. doi:10.1136/jmg.29.2.131
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Recurrence of neural tube defect in a group of at risk women: a 10 year study of Pregnavite Forte F.
M Holmes-Siedle, R H Lindenbaum, and A Galliard
J Med Genet 1992; 29: 134-135. doi:10.1136/jmg.29.2.134
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Unusual T cell clones in a patient with Nijmegen breakage syndrome.
D Stoppa-Lyonnet, D Girault, F LeDeist, and A Aurias
J Med Genet 1992; 29: 136-137. doi:10.1136/jmg.29.2.136
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Sociocultural problems in genetic counselling.
M Naveed, S R Phadke, A Sharma, and S S Agarwal
J Med Genet 1992; 29: 140. doi:10.1136/jmg.29.2.140
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Meckel syndrome and neural tube defects in Kuwait.
A S Teebi, Q A al Saleh, and H Odeh
J Med Genet 1992; 29: 140. doi:10.1136/jmg.29.2.140-a
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Fertility in a male with trisomy 21.
M Bobrow, T Barby, A Hajianpour, D Maxwell, and S C Yau
J Med Genet 1992; 29: 141. doi:10.1136/jmg.29.2.141
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Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.
F Serville
J Med Genet 1992; 29: 141. doi:10.1136/jmg.29.2.141-b
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