Strategies for screening for hereditary non-polyposis colorectal cancer
Anu Loukola, Albert de la Chapelle, and Lauri A Aaltonen
J Med Genet 1999; 36: 819-822. doi:10.1136/jmg.36.11.819
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A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
Silvère M van der Maarel, Giancarlo Deidda, Richard J L F Lemmers, Egbert Bakker, Michiel J R van der Wielen, Lodewijk Sandkuijl, Jane E Hewitt, George W Padberg, and Rune R Frants
J Med Genet 1999; 36: 823-828. doi:10.1136/jmg.36.11.823
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Cx26 deafness: mutation analysis and clinical variability
A Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, and F Zacchello
J Med Genet 1999; 36: 829-832. doi:10.1136/jmg.36.11.829
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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Buket Altuntas, Raffaella Giacchino, Maria Marazzi, Matilde Marcellini, Maria Rita Sartorelli, Giacomo Carlo Sturniolo, Nurten Kocak, Aysel Yuce, Nejat Akar, Mario Pirastu, and Antonio Cao
J Med Genet 1999; 36: 833-836. doi:10.1136/jmg.36.11.833
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The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
S M Price, R Stanhope, C Garrett, M A Preece, and R C Trembath
J Med Genet 1999; 36: 837-842. doi:10.1136/jmg.36.11.837
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Club foot, an adverse outcome of early amniocentesis: disruption or deformation?
S A Farrell, A M Summers, L Dallaire, J Singer, Jo-Ann M Johnson, and R D Wilson
J Med Genet 1999; 36: 843-846. doi:10.1136/jmg.36.11.843
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Origins of accessory small ring marker chromosomes derived from chromosome 1
D F Callen, H Eyre, Y-Y Fang, X-Y Guan, A Veleba, N J Martin, J McGill, and E A Haan
J Med Genet 1999; 36: 847-853. doi:10.1136/jmg.36.11.847
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Ulcerative colitis is not associated with differences in MUC2 mucin allele length
DALLAS M SWALLOW, LYNNE E VINALL, JAMES R GUM, YOUNG S KIM, HUIYING YANG, JEROME I ROTTER, MUDDASSAR MIRZA, JOHN C W LEE, and JOHN E LENNARD-JONES
J Med Genet 1999; 36: 859-860. doi:10.1136/jmg.36.11.859
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Mutation analysis of the DKC1 gene in incontinentia pigmenti
NINA S HEISS, ANNEMARIE POUSTKA, STUART W KNIGHT, SWAROOP ARADHYA, DAVID L NELSON, RICHARD A LEWIS, TERESA ESPOSITO, ALFREDO CICCODICOLA, MICHELE D'URSO, ASMAE SMAHI, SOLANGE HEUERTZ, ARNOLD MUNNICH, PIERRE VABRES, HAYLEY WOFFENDIN, and SUSAN KENWRICK
J Med Genet 1999; 36: 860-862. doi:10.1136/jmg.36.11.860
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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
HATEM EL-SHANTI, MAHMOUD AL-SALEM, MAHMOUD EL-NAJJAR, KAMEL AJLOUNI, JOHN BECK, VAL C SHEFFIELD, and EDWIN M STONE
J Med Genet 1999; 36: 862-865. doi:10.1136/jmg.36.11.862
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Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?
KAREN HELENE ØRSTAVIK, RAGNHILD ELISE ØRSTAVIK, and MARIANNE SCHWARTZ
J Med Genet 1999; 36: 865-866. doi:10.1136/jmg.36.11.865
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46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism
DAVID AMOR, MARTIN B DELATYCKI, MARLENE SUSMAN, ELLEN CASEY, TANIA NASH, GARRY WARNE, and JOHN HUTSON
J Med Genet 1999; 36: 866-869. doi:10.1136/jmg.36.11.866
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A dominant relationship between the ACE D allele and serum ACE levels in a Ghanaian population
S JEFFERY, A K SAGGAR MALIK, A CROSBY, M BLAND, J B EASTWOOD, J AMOAH-DANQUAH, J W ACHEAMPONG, and J PLANGE-RHULE
J Med Genet 1999; 36: 869-870. doi:10.1136/jmg.36.11.869
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Coexistence of Gaucher disease type 1 and Joubert syndrome
EUGEN J BOLTSHAUSER, BERNARD L MARIA;, A VAN ROYEN-KERKHOF, B T POLL-THE, and F A BEEMER
J Med Genet 1999; 36: 870-871. doi:10.1136/jmg.36.11.870
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