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Results 1 to 25 of 27

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Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromasSERIA, Eduard; ROSENBAUM, Thorsten; NADAL, Marga et al.Nature genetics. 2001, Vol 28, Num 3, pp 294-296, issn 1061-4036Article

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiencyBELLIDO, Fernando; PINEDA, Marta; SANZ-PAMPLONA, Rebeca et al.European journal of cancer (1990). 2014, Vol 50, Num 11, pp 1964-1972, issn 0959-8049, 9 p.Article

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome FamiliesBORRAS, Ester; PINEDA, Marta; BALMANA, Judith et al.Cancer research (Chicago, Ill.). 2010, Vol 70, Num 19, pp 7379-7391, issn 0008-5472, 13 p.Article

Prevalence of germline MUTYH mutations among Lynch-like syndrome patientsCASTILLEJO, Adela; VARGAS, Gardenia; OLTRA, Silvestre et al.European journal of cancer (1990). 2014, Vol 50, Num 13, pp 2241-2250, issn 0959-8049, 10 p.Article

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genesMENENDEZ, Mireia; CASTELLSAGUE, Joan; QUILES, Francisco et al.Breast cancer research and treatment. 2012, Vol 132, Num 3, pp 979-992, issn 0167-6806, 14 p.Article

Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic RecombinationSTEINMANN, Katharina; COOPER, David N; KEHRER-SAWATZKI, Hildegard et al.American journal of human genetics. 2007, Vol 81, Num 6, pp 1201-1220, issn 0002-9297, 20 p.Article

Schwann cells harbor the somatic NF1 mutation in neurofibromas : evidence of two different Schwann cell subpopulationsSERRA, Eduard; ROSENBAUM, Thorsten; WINNER, Ursula et al.Human molecular genetics (Print). 2000, Vol 9, Num 20, pp 3055-3064, issn 0964-6906Article

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian CancerBOLTON, Kelly L; CHENEVIX-TRENCH, Georgia; HEALEY, Sue et al.JAMA, the journal of the American Medical Association. 2012, Vol 307, Num 4, pp 382-390, issn 0098-7484, 9 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

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersMILNE, Roger L; OSORIO, Ana; BLANCO, Ignacio et al.Breast cancer research and treatment. 2010, Vol 119, Num 1, pp 221-232, issn 0167-6806, 12 p.Article

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer familiesGARCIA, Maria J; FERNANDEZ, Victoria; ALONSO, Carmen et al.Breast cancer research and treatment. 2009, Vol 113, Num 3, pp 545-551, issn 0167-6806, 7 p.Article

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium membersTHOMASSEN, Mads; BLANCO, Ana; JØNSON, Lars et al.Breast cancer research and treatment. 2012, Vol 132, Num 3, pp 1009-1023, issn 0167-6806, 15 p.Article

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriersIM, Kate M; KIRCHHOFF, Tomas; GUIDUCCI, Candace et al.Human genetics. 2011, Vol 130, Num 5, pp 685-699, issn 0340-6717, 15 p.Article

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatmentPROS, Eva; FERNANDEZ-RODRIGUEZ, Juana; BENITO, Llúcia et al.European journal of human genetics. 2010, Vol 18, Num 5, pp 614-617, issn 1018-4813, 4 p.Article

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasisDE CID, Rafael; RIVEIRA-MUNOZ, Eva; ESCARAMIS, Georgia et al.Nature genetics. 2009, Vol 41, Num 2, pp 211-215, issn 1061-4036, 5 p.Article

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyGAUSACHS, Mireia; MUR, Pilar; GRUBER, Stephen B et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 762-768, issn 1018-4813, 7 p.Article

Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including AdrenomedullinHUMMEL, Trent R; JESSEN, Walter J; SCHORRY, Elizabeth K et al.Clinical cancer research (Print). 2010, Vol 16, Num 20, pp 5048-5057, issn 1078-0432, 10 p.Article

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genesDEL VALLE, Jesús; FELIUBADALO, Lidia; CAPELLA, Gabriel et al.Breast cancer research and treatment. 2010, Vol 122, Num 3, pp 733-743, issn 0167-6806, 11 p.Article

Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility LociROSA-ROSA, Juan Manuel; PITA, Guillermo; CALDES, Trinidad et al.American journal of human genetics. 2009, Vol 84, Num 2, pp 115-122, issn 0002-9297, 8 p.Article

Network modeling links breast cancer susceptibility and centrosome dysfunctionANGEL PUJANA, Miguel; HAN, Jing-Dong J; ASSMANN, Volker et al.Nature genetics. 2007, Vol 39, Num 11, pp 1338-1349, issn 1061-4036, 12 p.Article

MLH1 methylation screening is effective in identifying epimutation carriersPINEDA, Marta; MUR, Pilar; BRUNET, Joan et al.European journal of human genetics. 2012, Vol 20, Num 12, pp 1256-1264, issn 1018-4813, 9 p.Article

Evidence for a link between TNFRSF11A and risk of breast cancerBONIFACI, Núria; PALAFOX, Marta; BARILE, Monica et al.Breast cancer research and treatment. 2011, Vol 129, Num 3, pp 947-954, issn 0167-6806, 8 p.Article

Identification of a new complex rearrangement affecting exon 20 of BRCA1DEL VALLE, Jesus; CAMPOS, Olga; CAPELLA, Gabriel et al.Breast cancer research and treatment. 2011, Vol 130, Num 1, pp 341-344, issn 0167-6806, 4 p.Article

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomiaHIMS, Matthew M; CHERIF IBRAHIM, El; SLAUGENHAUPT, Susan A et al.Journal of molecular medicine (Berlin. Print). 2007, Vol 85, Num 2, pp 149-161, issn 0946-2716, 13 p.Article

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