A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
D W Cox, D E Wills, F Quan, and P N Ray
J Med Genet 1988; 25: 649-652. doi:10.1136/jmg.25.10.649
[Abstract]
[PDF]
[Request Permissions]
Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.
R Taylor, M Jeenah, M Seed, and S Humphries
J Med Genet 1988; 25: 653-659. doi:10.1136/jmg.25.10.653
[Abstract]
[PDF]
[Request Permissions]
Prediction of consanguinity using human DNA fingerprints.
R A Wells, B Wonke, and S L Thein
J Med Genet 1988; 25: 660-662. doi:10.1136/jmg.25.10.660
[Abstract]
[PDF]
[Request Permissions]
A simple method for calculating risks before DNA analysis.
M Jeanpierre
J Med Genet 1988; 25: 663-668. doi:10.1136/jmg.25.10.663
[Abstract]
[PDF]
[Request Permissions]
Heterogeneity of familial porphyria cutanea tarda.
A G Roberts, G H Elder, R G Newcombe, R Enriquez de Salamanca, and J J Munoz
J Med Genet 1988; 25: 669-676. doi:10.1136/jmg.25.10.669
[Abstract]
[PDF]
[Request Permissions]
A new high activity plasma cholinesterase variant.
A Krause, A B Lane, and T Jenkins
J Med Genet 1988; 25: 677-681. doi:10.1136/jmg.25.10.677
[Abstract]
[PDF]
[Request Permissions]
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
B J Looij, Jr, R L te Slaa, B L Hogewind, and J J van de Kamp
J Med Genet 1988; 25: 682-686. doi:10.1136/jmg.25.10.682
[Abstract]
[PDF]
[Request Permissions]
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.
A Raas-Rothschild, R M Goodman, S Meyer, M B Katznelson, S T Winter, E Gross, M Tamarkin, T Ben-Ami, L Nebel, and S Mashiach
J Med Genet 1988; 25: 687-697. doi:10.1136/jmg.25.10.687
[Abstract]
[PDF]
[Request Permissions]
Increased sharing of maternal HLA haplotypes among children exposed to diphenylhydantoin during pregnancy.
S E Hodge, D C Van Dyke, A S Goldman, F Heide, R Hill, and C M Zmijewski
J Med Genet 1988; 25: 698-702. doi:10.1136/jmg.25.10.698
[Abstract]
[PDF]
[Request Permissions]
Mucosal neuromata syndrome (MEN type IIb (III)).
J P Fryns and K Chrzanowska
J Med Genet 1988; 25: 703-706. doi:10.1136/jmg.25.10.703
[PDF]
[Request Permissions]
Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
D Wellesley, I D Young, P Cooke, D F Callen, and A Hockey
J Med Genet 1988; 25: 707-710. doi:10.1136/jmg.25.10.707
[Abstract]
[PDF]
[Request Permissions]
A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
T Sonoda, S Ohdo, H Madokoro, and K Ohba
J Med Genet 1988; 25: 711-713. doi:10.1136/jmg.25.10.711
[Abstract]
[PDF]
[Request Permissions]
Arachnoid cysts in a brother and sister.
W G Wilson, K A Deponte, J McIlhenny, and F E Dreifuss
J Med Genet 1988; 25: 714-715. doi:10.1136/jmg.25.10.714
[Abstract]
[PDF]
[Request Permissions]
Late replication studies and esterase D levels in a case of unbalanced X;autosome translocation, 46,X,t(X;13)(q27;q12).
D R Romain, L M Columbano-Green, R G Parfitt, R H Smythe, N G MacKenzie, and C J Chapman
J Med Genet 1988; 25: 716-718. doi:10.1136/jmg.25.10.716
[PDF]
[Request Permissions]
Is the expression of fra(2)(q13) age dependent?
J P Fryns and H Van den Berghe
J Med Genet 1988; 25: 718. doi:10.1136/jmg.25.10.718
[PDF]
[Request Permissions]
Simultaneous occurrence of heritable t(3;7) and t(14;21) in two sibs.
A J Kruger, S Jansen, M P Marx, D J Coetzee, A E Cilliers, S Human, I Z Spies, and F Roux
J Med Genet 1988; 25: 718-720. doi:10.1136/jmg.25.10.718-a
[PDF]
[Request Permissions]