Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance studyCAUX-MONCOUTIER, Virginie; PAGES-BERHOUET, Sabine; MICHAUX, Dorothée et al.European journal of human genetics. 2009, Vol 17, Num 11, pp 1471-1480, issn 1018-4813, 10 p.Article

LHX1 mutation screening in 96 patients with müllerian duct abnormalitiesMINGDI XIA; HAN ZHAO; YINGYING QIN et al.Fertility and sterility. 2012, Vol 97, Num 3, pp 682-685, issn 0015-0282, 4 p.Article

Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probandsVINCENT, John B; KOLOZSVARI, Debbie; ROBERTS, Wendy S et al.American journal of medical genetics. 2004, Vol 129B, Num 1, pp 82-84, issn 0148-7299, 3 p.Article

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutationCORBANI, S; CHOUERY, E; FAYYAD, J et al.JIDR. Journal of intellectual disability research (Print). 2012, Vol 56, pp 415-420, issn 0964-2633, 6 p., 4Article

PCR-based Testing for Therapy-related EGFR Mutations in Patients with Non-small Cell Lung CancerDAHSE, Regine; BERNDT, Alexander; KOSMEHL, Hartwig et al.Anticancer research. 2008, Vol 28, Num 4B, pp 2265-2270, issn 0250-7005, 6 p.Article

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsPRASAD, Sai; KÖLLN, Karen A; CUCCI, Robert A et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 1-9, issn 0148-7299, 9 p.Article

Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 GenesBERGENDAL, Birgitta; KLAR, Joakim; STECKSEN-BLICKS, Christina et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1616-1622, issn 1552-4825, 7 p.Article

Bikunin and α₁-microglobulin/bikunin precursor (AMBP) gene mutational screening in patients with kidney stones: A case-control studyIGCI, Mehri; ARSLAN, Ahmet; IGCI, Yusuf Ziya et al.Scandinavian journal of urology and nephrology. 2010, Vol 44, Num 6, pp 413-419, issn 0036-5599, 7 p.Article

Epidermal growth factor receptor kinase domain mutations are rare in salivary gland carcinomasDAHSE, R; DRIEMEL, O; SCHWARZ, S et al.British journal of cancer. 2009, Vol 100, Num 4, pp 623-625, issn 0007-0920, 3 p.Article

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomalyWEISSCHUH, N; WOLF, C; WISSINGER, B et al.Clinical genetics. 2008, Vol 74, Num 5, pp 476-480, issn 0009-9163, 5 p.Article

A versatile denaturing HPLC approach for human β-globin gene mutation screeningBOURNAZOS, Stavros N; TSERGA, Aggeliki; PATRINOS, George P et al.American journal of hematology. 2007, Vol 82, Num 2, pp 168-170, issn 0361-8609, 3 p.Article

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collectionBLASI, Francesca; BACCHELLI, Elena; PESARESI, Giulia et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2006, Vol 141, Num 3, pp 220-221, issn 1552-4841, 2 p.Article

Deletion and duplication screening in the DMD gene using MLPALALIC, Tanja; VOSSEN, Rolf H. A. M; COFFA, Jordy et al.European journal of human genetics. 2005, Vol 13, Num 11, pp 1231-1234, issn 1018-4813, 4 p.Article

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancerKÄMPJÄRVI, K; MÄKINEN, N; SCHREWE, H et al.British journal of cancer. 2012, Vol 107, Num 10, pp 1761-1765, issn 0007-0920, 5 p.Article

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaFERNANDEZ-MARTINEZ, Lorena; LETTEBOER, Stef; ROEPMAN, Ronald et al.European journal of human genetics. 2011, Vol 19, Num 4, pp 445-451, issn 1018-4813, 7 p.Article

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancySANDAL, T; LABORIE, L. B; BRUSGAARD, K et al.Clinical genetics. 2009, Vol 75, Num 5, pp 440-448, issn 0009-9163, 9 p.Article

CDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in DenmarkDUNO, Morten; SVEEN, Marie-Louise; SCHWARTZ, Marianne et al.European journal of human genetics. 2008, Vol 16, Num 8, pp 935-940, issn 1018-4813, 6 p.Article

Detection of drug-sensitizing EGFR exon 19 deletion mutations in salivary gland carcinomaDAHSE, R; KOSMEHL, H.British journal of cancer. 2008, Vol 99, Num 1, pp 90-92, issn 0007-0920, 3 p.Article

Frequency and phenotypes of LRRK2 G2019S mutation in italian patients with Parkinson's diseaseMARONGIU, Roberta; GHEZZI, Daniele; CORTELLI, Pietro et al.Movement disorders. 2006, Vol 21, Num 8, pp 1232-1235, issn 0885-3185, 4 p.Article

Discordant phenotypes in first cousins with UBE3A frameshift mutationMOLFETTA, G. A; MUNOZ, M. V. R; SANTOS, A. C et al.American journal of medical genetics. 2004, Vol 127A, Num 3, pp 258-262, issn 0148-7299, 5 p.Article

Autosomal recessive Alport's syndrome and benign familial hematuria are Collagen type IV diseasesTAZON VEGA, Barbara; BADENAS, Cèlia; ARS, Elisabet et al.American journal of kidney diseases. 2003, Vol 42, Num 5, pp 952-959, issn 0272-6386, 8 p.Article

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinomaTAYLOR, Claire; CRAVEN, Rachel A; HARNDEN, Patricia et al.International journal of oncology. 2012, Vol 41, Num 4, pp 1229-1240, issn 1019-6439, 12 p.Article

Germline BRCA1 mutations increase prostate cancer riskLEONGAMORNLERT, D; MAHMUD, N; SAWYER, E et al.British journal of cancer. 2012, Vol 106, Num 10, pp 1697-1701, issn 0007-0920, 5 p.Article

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screeningTOLVANEN, Jaana; UIMARI, Outi; RYYNÄNEN, Markku et al.Human reproduction (Oxford. Print). 2012, Vol 27, Num 6, pp 1865-1869, issn 0268-1161, 5 p.Article

ATP13A2 Variability in Taiwanese Parkinson's DiseaseCHEN, Chiung-Mei; LIN, Chih-Hsin; CHEN, Ya-Tang et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2011, Vol 156, Num 6, pp 720-729, issn 1552-4841, 10 p.Article