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Journal of Medical Genetics
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1 Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
2 Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease.
3 MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
4 Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly.
5 The revised Ghent nosology for the Marfan syndrome.
6 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
7 Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
8 Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.
9 Hereditary diffuse gastric cancer: lifesaving total gastrectomy for CDH1 mutation carriers.
10 Replication of KIF21B as a susceptibility locus for multiple sclerosis.
11 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
12 Multiple cutaneous squamous cell carcinomas in a patient with interferon {gamma} receptor 2 (IFN{gamma}R2) deficiency.
13 Risk of breast cancer in male BRCA2 carriers.
14 Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
15 The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
16 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
17 A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
18 Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.
19 Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.
20 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
 
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