Implications for medical genetics of the House of Commons Science and Technology Committee's report on human genetics.
R Harris
J Med Genet 1996; 33: 266-267. doi:10.1136/jmg.33.4.266
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A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36.
I P Tomlinson, K Neale, I C Talbot, A D Spigelman, C B Williams, R K Phillips, and W F Bodmer
J Med Genet 1996; 33: 268-273. doi:10.1136/jmg.33.4.268
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Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.
Z Dobbie, M Spycher, J L Mary, M Häner, I Guldenschuh, R Hürliman, R Amman, J Roth, H Müller, and R J Scott
J Med Genet 1996; 33: 274-280. doi:10.1136/jmg.33.4.274
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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
P Burlet, L Bürglen, O Clermont, S Lefebvre, L Viollet, A Munnich, and J Melki
J Med Genet 1996; 33: 281-283. doi:10.1136/jmg.33.4.281
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The molecular defect underlying canine fucosidosis.
B J Skelly, D R Sargan, M E Herrtage, and B G Winchester
J Med Genet 1996; 33: 284-288. doi:10.1136/jmg.33.4.284
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The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mapping.
C D Evans, A G Searle, A A Schinzel, and R M Winter
J Med Genet 1996; 33: 289-294. doi:10.1136/jmg.33.4.289
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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.
S J Steinberg and A H Fensom
J Med Genet 1996; 33: 295-299. doi:10.1136/jmg.33.4.295
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Holt-Oram syndrome: a clinical genetic study.
R A Newbury-Ecob, R Leanage, J A Raeburn, and I D Young
J Med Genet 1996; 33: 300-307. doi:10.1136/jmg.33.4.300
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Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
R H Wallace, S F Berkovic, R A Howell, G R Sutherland, and J C Mulley
J Med Genet 1996; 33: 308-312. doi:10.1136/jmg.33.4.308
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Parents' responses to predictive genetic testing in their children: report of a single case study.
S Michie, V McDonald, M Bobrow, C McKeown, and T Marteau
J Med Genet 1996; 33: 313-318. doi:10.1136/jmg.33.4.313
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Syndromes with lissencephaly.
D T Pilz and O W Quarrell
J Med Genet 1996; 33: 319-323. doi:10.1136/jmg.33.4.319
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A novel splice site mutation in a Becker muscular dystrophy patient.
C Bartolo, A C Papp, P J Snyder, M S Sedra, A H Burghes, C D Hall, J R Mendell, and T W Prior
J Med Genet 1996; 33: 324-327. doi:10.1136/jmg.33.4.324
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Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
E R Maher, A R Webster, F M Richards, J S Green, P A Crossey, S J Payne, and A T Moore
J Med Genet 1996; 33: 328-332. doi:10.1136/jmg.33.4.328
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Familial cluster of ovarian small cell carcinoma: a new mendelian entity?
M Longy, C Toulouse, P Mage, J Chauvergne, and M Trojani
J Med Genet 1996; 33: 333-335. doi:10.1136/jmg.33.4.333
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The angiotensin-I converting enzyme (ACE) gene I/D polymorphism and ACE levels in Pima Indians.
C A Foy, L J McCormack, W C Knowler, J H Barrett, A Catto, and P J Grant
J Med Genet 1996; 33: 336-337. doi:10.1136/jmg.33.4.336
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Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
M Milà, S Castellví-Bel, A Sánchez, C Lázaro, M Villa, and X Estivill
J Med Genet 1996; 33: 338-340. doi:10.1136/jmg.33.4.338
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Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
M G Ribeiro, T Sonin, R A Pinto, A Fontes, H Ribeiro, E Pinto, M M Palmeira, and M C Sá Miranda
J Med Genet 1996; 33: 341-343. doi:10.1136/jmg.33.4.341
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"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
R V Mikelsaar, I W Lurie, and T E Ilus
J Med Genet 1996; 33: 344-345. doi:10.1136/jmg.33.4.344
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Genetics in primary care. Report on workshop of EC Concerted Action on Genetics Services in Europe (CAGSE) in association with the Royal College of GP Spring Meeting, Blackpool, UK, 28 April 1995.
R Harris and H Harris
J Med Genet 1996; 33: 346-348. doi:10.1136/jmg.33.4.346
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Renal and urological tract malformations caused by a 22q11 deletion.
K Devriendt, A Swillen, J P Fryns, W Proesmans, and M Gewillig
J Med Genet 1996; 33: 349. doi:10.1136/jmg.33.4.349
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Unstable mutation in incontinentia pigmenti?
E Hatchwell
J Med Genet 1996; 33: 349-350. doi:10.1136/jmg.33.4.349-a
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