Medical genetics in the UK and the National Health Service.
P S Harper
J Med Genet 1998; 35: 441-442. doi:10.1136/jmg.35.6.441
[PDF]
[Request Permissions]
"Code of practice and guidance on human genetic testing services supplied direct to the public". Advisory Committee on Genetic Testing.
J C Barber
J Med Genet 1998; 35: 443-445. doi:10.1136/jmg.35.6.443
[PDF]
[Request Permissions]
A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland.
A Arason, A Jonasdottir, R B Barkardottir, J T Bergthorsson, M D Teare, D F Easton, and V Egilsson
J Med Genet 1998; 35: 446-449. doi:10.1136/jmg.35.6.446
[Abstract]
[PDF]
[Request Permissions]
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
D G Evans, L Trueman, A Wallace, S Collins, and T Strachan
J Med Genet 1998; 35: 450-455. doi:10.1136/jmg.35.6.450
[Abstract]
[PDF]
[Request Permissions]
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Y Z Du, C Dickerson, A S Aylsworth, and C E Schwartz
J Med Genet 1998; 35: 456-462. doi:10.1136/jmg.35.6.456
[Abstract]
[PDF]
[Request Permissions]
A polymorphism of the CC16 gene is associated with an increased risk of asthma.
I A Laing, J Goldblatt, E Eber, C M Hayden, P J Rye, N A Gibson, L J Palmer, P R Burton, and P N Le Souëf
J Med Genet 1998; 35: 463-467. doi:10.1136/jmg.35.6.463
[Abstract]
[PDF]
[Request Permissions]
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
S A Rasmussen, S D Colman, V T Ho, C R Abernathy, P H Arn, L Weiss, C Schwartz, R A Saul, and M R Wallace
J Med Genet 1998; 35: 468-471. doi:10.1136/jmg.35.6.468
[Abstract]
[PDF]
[Request Permissions]
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
K A Chotai and S J Payne
J Med Genet 1998; 35: 472-475. doi:10.1136/jmg.35.6.472
[Abstract]
[PDF]
[Request Permissions]
A survey of phenotypic features in juvenile polyposis.
D C Desai, V Murday, R K Phillips, K F Neale, P Milla, and S V Hodgson
J Med Genet 1998; 35: 476-481. doi:10.1136/jmg.35.6.476
[Abstract]
[PDF]
[Request Permissions]
Maternal age specific risk rate estimates for Down syndrome among live births in whites and other races from Ohio and metropolitan Atlanta, 1970-1989.
C A Huether, J Ivanovich, B S Goodwin, E L Krivchenia, V S Hertzberg, L D Edmonds, D S May, and J H Priest
J Med Genet 1998; 35: 482-490. doi:10.1136/jmg.35.6.482
[Abstract]
[PDF]
[Request Permissions]
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
J C Barber, C A Joyce, M N Collinson, J C Nicholson, L R Willatt, H M Dyson, M S Bateman, A J Green, J R Yates, and N R Dennis
J Med Genet 1998; 35: 491-496. doi:10.1136/jmg.35.6.491
[Abstract]
[PDF]
[Request Permissions]
Meckel syndrome.
R Salonen and P Paavola
J Med Genet 1998; 35: 497-501. doi:10.1136/jmg.35.6.497
[Abstract]
[PDF]
[Request Permissions]
Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families.
T Kawashima, E Noguchi, T Arinami, K Yamakawa-Kobayashi, H Nakagawa, F Otsuka, and H Hamaguchi
J Med Genet 1998; 35: 502-504. doi:10.1136/jmg.35.6.502
[Abstract]
[PDF]
[Request Permissions]
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
N Elçioglu and C M Hall
J Med Genet 1998; 35: 505-507. doi:10.1136/jmg.35.6.505
[Abstract]
[PDF]
[Request Permissions]
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
K Devriendt, D Stoffelen, R Pfeiffer, A Leys, and J P Fryns
J Med Genet 1998; 35: 508-509. doi:10.1136/jmg.35.6.508
[Abstract]
[PDF]
[Request Permissions]
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.
S N Jackson, B Williams, P Houtman, and R C Trembath
J Med Genet 1998; 35: 510-512. doi:10.1136/jmg.35.6.510
[Abstract]
[PDF]
[Request Permissions]
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.
A Jukkola, S Kauppila, L Risteli, K Vuopala, J Risteli, J Leisti, and L Pajunen
J Med Genet 1998; 35: 513-518. doi:10.1136/jmg.35.6.513
[Abstract]
[PDF]
[Request Permissions]
Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
P Dalton, B Coppin, R James, D Skuse, and P Jacobs
J Med Genet 1998; 35: 519-524. doi:10.1136/jmg.35.6.519
[Abstract]
[PDF]
[Request Permissions]
Laws regarding insurance companies.
G Hauser and A Jenisch
J Med Genet 1998; 35: 526-527. doi:10.1136/jmg.35.6.526
[PDF]
[Request Permissions]
Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.
J Bellingham, C Y Gregory-Evans, and K Gregory-Evans
J Med Genet 1998; 35: 527. doi:10.1136/jmg.35.6.527
[PDF]
[Request Permissions]