Pascal and Francis Bibliographic Databases

Help

Search results

Your search

au.\*:("HOLINSKI-FEDER, Elke")

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 20 of 20

  • Page / 1
Export

Selection :

  • and

Single Cell Analysis of Mutations in the APC GeneMAYER, Veronika; SCHOEN, Ulrike; HOLINSKI-FEDER, Elke et al.Fetal diagnosis and therapy. 2009, Vol 26, Num 3, pp 148-156, issn 1015-3837, 9 p.Article

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancerMORAK, Monika; LANER, Andreas; SCHOLZ, Michael et al.European journal of gastroenterology & hepatology. 2008, Vol 20, Num 11, pp 1101-1105, issn 0954-691X, 5 p.Article

MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimationGOLLA, Astrid; ROST, Imma; JEDELE, Kerry Baldwin et al.American journal of medical genetics. 2002, Vol 107, Num 1, pp 18-25, issn 0148-7299Article

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-based study in northern swedenCEDERQUIST, Kristina; EMANUELSSON, Monica; GÖRANSSON, Ingela et al.International journal of cancer. 2004, Vol 109, Num 3, pp 370-376, issn 0020-7136, 7 p.Article

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexiaHORVATH, Rita; BENDER, Andreas; ABICHT, Angela et al.Journal of neurology. 2009, Vol 256, Num 5, pp 810-815, issn 0340-5354, 6 p.Article

Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCRBETTSTETTER, Marcus; DECHANT, Stephan; RUEMMELE, Petra et al.Clinical cancer research. 2007, Vol 13, Num 11, pp 3221-3228, issn 1078-0432, 8 p.Article

Intrafamilial variability in fragile X-associated tremor/ataxia syndromePETERS, Nils; KAMM, Christoph; ASMUS, Friedrich et al.Movement disorders. 2006, Vol 21, Num 1, pp 98-102, issn 0885-3185, 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

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyHORVATH, Rita; KEMP, John P; KOLLBERG, Gittan et al.Brain. 2009, Vol 132, pp 3165-3174, issn 0006-8950, 10 p., 11Article

Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesNOLIN, Sarah L; BROWN, W. Ted; KOOY, Frank et al.American journal of human genetics. 2003, Vol 72, Num 2, pp 454-464, issn 0002-9297, 11 p.Article

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral NeuropathyHORVATH, Rita; HOLINSKI-FEDER, Elke; NURNBERG, Peter et al.Movement disorders. 2012, Vol 27, Num 6, pp 789-793, issn 0885-3185, 5 p.Article

Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibilityLASCORZ, Jesús; FÖRSTI, Asta; SCHULMANN, Karsten et al.Carcinogenesis (New York. Print). 2010, Vol 31, Num 9, pp 1612-1619, issn 0143-3334, 8 p.Article

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCCMORAK, Monika; SCHACKERT, Hans Konrad; KELLER, Gisela et al.European journal of human genetics. 2008, Vol 16, Num 7, pp 804-811, issn 1018-4813, 8 p.Article

Deciphering the genetics of hereditary non-syndromic colorectal cancerPAPAEMMANUIL, Eli; CARVAJAL-CARMONA, Luis; VIJAYAKRISHNAN, Jayaram et al.European journal of human genetics. 2008, Vol 16, Num 12, pp 1477-1486, issn 1018-4813, 10 p.Article

Beta2-microglobulin mutations in microsatellite unstable colorectal tumorsKLOOR, Matthias; MICHEL, Sara; SCHWITALLE, Yvette et al.International journal of cancer. 2007, Vol 121, Num 2, pp 454-458, issn 0020-7136, 5 p.Article

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3HORVATH, Rita; CZERMIN, Birgit; BRODHUN, Michael et al.Journal of neurology, neurosurgery and psychiatry. 2012, Vol 83, Num 2, pp 174-178, issn 0022-3050, 5 p.Article

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 german families suspected of hereditary nonpolyposis colorectal cancerMANGOLD, Elisabeth; PAGENSTECHER, Constanze; SCHACKERT, Hans K et al.International journal of cancer. 2005, Vol 116, Num 5, pp 692-702, issn 0020-7136, 11 p.Article

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 familiesSTEINKE, Verena; HOLZAPFEL, Stefanie; BÜTTNER, Reinhard et al.International journal of cancer (Print). 2014, Vol 135, Num 1, pp 69-77, issn 0020-7136, 9 p.Article

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTAYLOR, Robert W; PYLE, Angela; YARHAM, John W et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 1, pp 68-77, issn 0098-7484, 10 p.Article

Risks of Less Common Cancers in Proven Mutation Carriers With Lynch SyndromeENGEL, Christoph; LOEFFLER, Markus; SCHMIEGEL, Wolff et al.Journal of clinical oncology. 2012, Vol 30, Num 35, pp 4409-4415, issn 0732-183X, 7 p.Article

  • Page / 1