Clinical diagnostic tests

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease
M-L Jacquemont, D Campion, V Hahn, C Tallaksen, T Frebourg, A Brice, A Durr

Journal of Medical Genetics Feb 2002, 39 (2) e2; DOI: 10.1136/jmg.39.2.e2
Autosomal translocation associated with premature ovarian failure
KAREN A BURTON, CYNTHIA C VAN EE, KIM PURCELL, INGRID WINSHIP, ANDREW N SHELLING

Journal of Medical Genetics May 2000, 37 (5) e2; DOI: 10.1136/jmg.37.5.e2
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M AMIR, KHALIL I AL-TAWIL, MUNEEF M AL-HATHAL

Journal of Medical Genetics Sep 2000, 37 (9) e21; DOI: 10.1136/jmg.37.9.e21
A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma
S H Lefévre, L Chauveinc, D Stoppa-Lyonnet, J Michon, L Lumbroso, P Berthet, D Frappaz, B Dutrillaux, S Chevillard, B Malfoy

Journal of Medical Genetics May 2002, 39 (5) e21; DOI: 10.1136/jmg.39.5.e21
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene
Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, Jing-Houng Wang

Journal of Medical Genetics Jul 2001, 38 (7) e23; DOI: 10.1136/jmg.38.7.e23
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
A Kocks, S Endele, R Heller, B Schröder, H-J Schäfer, C Städtler, M Makrigeorgi-Butera, A Winterpacht

Journal of Medical Genetics May 2002, 39 (5) e23; DOI: 10.1136/jmg.39.5.e23
Proximal 10q trisomy: a new case with anal atresia
F W F LAM, W K CHAN, S T S LAM, W P CHU, N S KWONG

Journal of Medical Genetics Sep 2000, 37 (9) e24; DOI: 10.1136/jmg.37.9.e24
Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC
C Cazeneuve, S Papin, I Jéru, P Duquesnoy, S Amselem

Journal of Medical Genetics Mar 2004, 41 (3) e24; DOI: 10.1136/jmg.2003.011601
Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
D M Eccles, S Barker, D T Pilz, C Kennedy

Journal of Medical Genetics Mar 2003, 40 (3) e24; DOI: 10.1136/jmg.40.3.e24
Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations
C Hernando, A Plaja, M A Rigola, M M Pérez, T Vendrell, J Egocue, C Fuster

Journal of Medical Genetics May 2002, 39 (5) e24; DOI: 10.1136/jmg.39.5.e24

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