CLINICAL

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák

Journal of Medical Genetics Apr 1999, 36 (4) 290-294; DOI: 10.1136/jmg.36.4.290
Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility
Susan Searle, Jenefer M Blackwell

Journal of Medical Genetics Apr 1999, 36 (4) 295-299; DOI: 10.1136/jmg.36.4.295
Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples
Barbara Pertl, Susanne Kopp, Peter M Kroisel, Lucia Tului, Bruno Brambati, Matteo Adinolfi

Journal of Medical Genetics Apr 1999, 36 (4) 300-303; DOI: 10.1136/jmg.36.4.300
High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects
G Goelen, E Teugels, M Bonduelle, B Neyns, J De Grève

Journal of Medical Genetics Apr 1999, 36 (4) 304-308; DOI: 10.1136/jmg.36.4.304
The accuracy of diagnoses as reported in families with cancer: a retrospective study
Fiona S Douglas, Lindsay C O’Dair, Marion Robinson, D Gareth R Evans, Sally A Lynch

Journal of Medical Genetics Apr 1999, 36 (4) 309-312; DOI: 10.1136/jmg.36.4.309
Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family
Tracey A Smith, Shu C Yau, Martin Bobrow, Stephen J Abbs

Journal of Medical Genetics Apr 1999, 36 (4) 313-315; DOI: 10.1136/jmg.36.4.313
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy
Kathleen M Fitzgerald, Gerhard W Cibis, Ann Headrick Gettel, Robert Rinaldi, David J Harris, Robert A White

Journal of Medical Genetics Apr 1999, 36 (4) 316-322; DOI: 10.1136/jmg.36.4.316
Association of a lymphotoxin α gene polymorphism and atopy in Italian families
Elisabetta Trabetti, Cristina Patuzzo, Giovanni Malerba, Roberta Galavotti, Laura Carmen Martinati, Attilio L Boner, Pier Franco Pignatti

Journal of Medical Genetics Apr 1999, 36 (4) 323-325; DOI: 10.1136/jmg.36.4.323
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region
Osamu Miyoshi, Tatsuro Kondoh, Hiroshi Taneda, Kojiro Otsuka, Tadashi Matsumoto, Norio Niikawa

Journal of Medical Genetics Apr 1999, 36 (4) 326-329; DOI: 10.1136/jmg.36.4.326
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia
Sylvie Odent, Philippe Loget, Bernard Le Marec, Anne-Lise Delezoïde, Pierre Maroteaux

Journal of Medical Genetics Apr 1999, 36 (4) 330-332; DOI: 10.1136/jmg.36.4.330

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