ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/GypsiesCHAMOVA, Teodora; FLOREZ, Laura; GUERGUELTCHEVA, Velina et al.Journal of neurology. 2012, Vol 259, Num 5, pp 906-911, issn 0340-5354, 6 p.Article

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneSARKOZY, Anna; WINDPASSINGER, Christian; BUSHBY, Kate et al.European journal of human genetics. 2011, Vol 19, Num 10, pp 1038-1044, issn 1018-4813, 7 p.Article

Founder mutations in BRCA1 and BRCA2 genesFERLA, R; CALO, V; CASCIO, S et al.Annals of oncology. 2007, Vol 18, issn 0923-7534, vi93-vi98, SUP6Conference Paper

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populationsHAMEL, Nancy; FENG, Bing-Jian; GORSKI, Bohdan et al.European journal of human genetics. 2011, Vol 19, Num 3, pp 300-306, issn 1018-4813, 7 p.Article

A belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. CommentaryHARDY, John; MOMENI, Parastoo; CAEKEBEKE, Jo et al.Brain. 2006, Vol 129, issn 0006-8950, 830-831,841-852 [14 p.], 4Article

High frequency of BRCA1 5382insC mutation in Russian breast cancer patientsSOKOLENKO, Anna P; MITIUSHKINA, Natalia V; MATSKO, Dmitry E et al.European journal of cancer (1990). 2006, Vol 42, Num 10, pp 1380-1384, issn 0959-8049, 5 p.Article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutationPEIXOTO, Ana; SANTOS, Catarina; THOMASSEN, Mads et al.Breast cancer research and treatment. 2011, Vol 127, Num 3, pp 671-679, issn 0167-6806, 9 p.Article

A common Greenlandic Inuit BRCA1 RING domain founder mutationHANSEN, Thomas V. O; EJLERTSEN, Bent; JØNSON, Lars et al.Breast cancer research and treatment. 2009, Vol 115, Num 1, pp 69-76, issn 0167-6806, 8 p.Article

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre SyndromeKURBAN, Mazen; WAJID, Muhammad; SHIMOMURA, Yutaka et al.Dermatology (Basel). 2009, Vol 219, Num 4, pp 289-294, issn 1018-8665, 6 p.Article

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populationsPROKOFYEVA, Darya; BOGDANOVA, Natalia; PARK-SIMON, Tjoung-Won et al.Breast cancer research and treatment. 2013, Vol 137, Num 2, pp 533-539, issn 0167-6806, 7 p.Article

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicingTHOMASSEN, Mads; SØKILDE PEDERSEN, Inge; LUISE BISGAARD, Marie et al.Breast cancer research and treatment. 2011, Vol 128, Num 1, pp 179-185, issn 0167-6806, 7 p.Article

Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuriesBAR-SHIRA, Anat; HUTTER, Carolyn M; GILADI, Nir et al.Neurogenetics (Oxford. Print). 2009, Vol 10, Num 4, pp 355-358, issn 1364-6745, 4 p.Article

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central ItalyPAPI, Laura; PUTIGNANO, Anna Laura; GENUARDI, Maurizio et al.Breast cancer research and treatment. 2009, Vol 117, Num 3, pp 497-504, issn 0167-6806, 8 p.Article

The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancerHEIMDAL, K; MAEHLE, L; APOLD, J et al.European journal of cancer (1990). 2003, Vol 39, Num 15, pp 2205-2213, issn 0959-8049, 9 p.Article

Clinical, biochemical and molecular characterization of peroxisomal diseases in ArabsSHAHEEN, R; AI-DIRBASHI, O. Y; AL-SAYED, M et al.Clinical genetics. 2011, Vol 79, Num 1, pp 60-70, issn 0009-9163, 11 p.Article

ERCC6 founder mutation identified in Finnish patients with COFS syndromeJAAKKOLA, E; MUSTONEN, A; OLSEN, P et al.Clinical genetics. 2010, Vol 78, Num 6, pp 541-547, issn 0009-9163, 7 p.Article

Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek populationPERTESI, M; KONSTANTOPOULOU, I; YANNOUKAKOS, D et al.Clinical genetics. 2011, Vol 80, Num 4, pp 375-382, issn 0009-9163, 8 p.Article

4843delC of the BRCA1 gene is a possible founder mutation in southern Italy (Sicily)RUSSO, A; CALO, V; INTRIVICI, C et al.Annals of oncology. 2007, Vol 18, issn 0923-7534, vi99-vi102, SUP6Conference Paper

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)HANTKE, Janina; CHANDLER, David; BAAS, Frank et al.European journal of human genetics. 2009, Vol 17, Num 12, pp 1606-1614, issn 1018-4813, 9 p.Article

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patientsMUELAS, N; HACKMAN, P; VILCHEZ, J. J et al.Clinical genetics. 2012, Vol 81, Num 5, pp 491-494, issn 0009-9163, 4 p.Article

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle EastSANDER, C. S; SALMAN, N; VERSTRAETENT, V. L. R. M et al.British journal of dermatology (1951). 2008, Vol 159, Num 4, pp 961-967, issn 0007-0963, 7 p.Article

Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1ROST, Simone; GEISEN, Christof; FREGIN, Andreas et al.Blood coagulation & fibrinolysis. 2006, Vol 17, Num 6, pp 503-507, issn 0957-5235, 5 p.Article

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in GypsiesSIVADORAI, P; CHERNINKOVA, S; KANEVA, R et al.Clinical genetics. 2008, Vol 74, Num 1, pp 82-87, issn 0009-9163, 6 p.Article

Two founder BRCA2 mutations predispose to breast cancer in young womenINFANTE, Mar; DURAN, Mercedes; VELASCO, Eladio A et al.Breast cancer research and treatment. 2010, Vol 122, Num 2, pp 567-571, issn 0167-6806, 5 p.Article

An American founder mutation in MLH1TOMSIC, Jerneja; LIYANARACHCHI, Sandya; VIEL, Alessandra et al.International journal of cancer (Print). 2012, Vol 130, Num 9, pp 2088-2095, issn 0020-7136, 8 p.Article