Clinical diagnostic tests

A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
Sarah L Dee, Andrew T Clark, Lionel R Willatt, John R W Yates

Journal of Medical Genetics Sep 2001, 38 (9) e32; DOI: 10.1136/jmg.38.9.e32
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson

Journal of Medical Genetics Mar 2004, 41 (3) e33; DOI: 10.1136/jmg.2003.014274
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi

Journal of Medical Genetics Mar 2004, 41 (3) e34; DOI: 10.1136/jmg.2003.013714
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1
T J L DE RAVEL, G MATTHIJS, M HOLVOET, C WOUTERS, E LEGIUS, J P FRYNS

Journal of Medical Genetics Nov 2000, 37 (11) e34; DOI: 10.1136/jmg.37.11.e34
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy
MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, RICHARD C TREMBATH

Journal of Medical Genetics Nov 2000, 37 (11) e35; DOI: 10.1136/jmg.37.11.e35
Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers
E Kwiatkowska, I Brozek, E Izycka-Swieszewska, J Limon, A Mackiewicz

Journal of Medical Genetics Jul 2002, 39 (7) e35; DOI: 10.1136/jmg.39.7.e35
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, A De Paepe

Journal of Medical Genetics Jul 2006, 43 (7) e36; DOI: 10.1136/jmg.2005.038224
Identification of three novel frameshift mutations in patients with Friedreich's ataxia
MARK A POOK, SAHAR A H AL-MAHDAWI, NEIL H THOMAS, RICHARD APPLETON, ANDREW NORMAN, ROGER MOUNTFORD, SUSAN CHAMBERLAIN

Journal of Medical Genetics Nov 2000, 37 (11) e38; DOI: 10.1136/jmg.37.11.e38
Clinical presentation in female patients with Fabry disease
N Guffon

Journal of Medical Genetics Apr 2003, 40 (4) e38; DOI: 10.1136/jmg.40.4.e38

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