Search Results - "Ravnik-Glavač, M" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

by Jaakson, K., Zernant, J., Külm, M., Hutchinson, A., Tonisson, N., Glavač, D., Ravnik‐Glavač, M., Hawlina, M., Meltzer, M.R., Caruso, R.C., Testa, F., Maugeri, A., Hoyng, C.B., Gouras, P., Simonelli, F., Lewis, R.A., Lupski, J.R., Cremers, F.P.M., Allikmets, R.
Published in Human mutation (01.11.2003)

Get full text

Journal Article

Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers

Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers

by Potočnik, U, Ravnik-Glavač, M, Golouh, R, Glavač, D
Published in Journal of medical genetics (01.05.2002)

Get full text

Journal Article

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

by Šlajpah, M., Gorinšek, B., Berginc, G., Vizjak, A., Ferluga, D., Hvala, A., Meglič, A., Jakša, I., Furlan, P., Gregorič, A., Kaplan-Pavlovčič, Š, Ravnik-Glavač, M., Glavač, D.
Published in Kidney international (01.06.2007)

Get full text

Journal Article

Genetic changes in the origin and development of renal cell carcinoma (RCC)

Genetic changes in the origin and development of renal cell carcinoma (RCC)

by Glavac, D, Ravnik-Glavac, M, Ovcak, Z, Masera, A
Published in Pflügers Archiv (1996)

Get more information

Journal Article

DHPLC screening of cystic fibrosis gene mutations

DHPLC screening of cystic fibrosis gene mutations

by Ravnik-Glavač, Metka, Atkinson, Andrew, Glavač, Damjan, Dean, Michael
Published in Human mutation (01.04.2002)

Get full text

Journal Article

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

by Ravnik-Glavac, M, Potocnik, U, Glavac, D
Published in Journal of medical genetics (01.07.2000)

Get full text

Journal Article

Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men

Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men

by Ravnik-Glavac, M, Svetina, N, Zorn, B, Peterlin, B, Glavac, D
Published in Genetic testing (01.09.2001)

Get more information

Journal Article

Animal model in the study of colorectal carcinogenesis

Animal model in the study of colorectal carcinogenesis

by Ravnik-Glavac, M, Cerar, A, Glavac, D
Published in Pflügers Archiv (2000)

Get full text

Journal Article

Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database

Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database

by Allikmets, R, Gerrard, B, Glavac, D, Ravnik-Glavac, M, Jenkins, N A, Gilbert, D J, Copeland, N G, Modi, W, Dean, M
Published in Mammalian genome (01.02.1995)

Get more information

Journal Article

Analysis of 14 cystic fibrosis mutations in five south European populations

Analysis of 14 cystic fibrosis mutations in five south European populations

by Nunes, V, Gasparini, P, Novelli, G, Gaona, A, Bonizzato, A, Sangiuolo, F, Balassopoulou, A, Giménez, F J, Dognini, M, Ravnik-Glavac, M
Published in Human genetics (01.10.1991)

Get more information

Journal Article

Genetics and clinical characteristics of keratoconus

Genetics and clinical characteristics of keratoconus

by Stabuc-Silih, Mirna, Strazisar, Mojca, Ravnik-Glavac, Metka, Hawlina, Marko, Glavac, Damjan
Published in Acta dermatovenerologica Alpina, Panonica, et Adriatica (01.01.2010)

Get full text

Journal Article

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

by Ravnik-Glavac, M, Glavac, D, Dean, M
Published in Human molecular genetics (01.05.1994)

Get more information

Journal Article

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

by Estivill, Xavier, Bancells, Consol, Ramos, Cristina
Published in Human mutation (1997)

Get full text

Journal Article

Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens

Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens

by Ravnik-Glavac, M, Dean, M, Glavac, D
Published in Pflügers Archiv (2000)

Get full text

Journal Article

Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis

Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis

by Glavač, Damjan, Potočnik, Uroš, Podpečnik, Darja, Žižek, Teofil, Smerkolj, Sava, Ravnik-Glavač, Metka
Published in Human mutation (01.04.2002)

Get full text

Journal Article

Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability

Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability

by Potocnik, Uros, Glavac, Damjan, Ravnik-Glavac, Metka
Published in Genes chromosomes & cancer (01.01.2003)

Get full text

Journal Article

Evaluation of microsatellite markers for efficient assessment of high microsatellite instabile colorectal tumors

Evaluation of microsatellite markers for efficient assessment of high microsatellite instabile colorectal tumors

by Potocnik, U, Glavac, D, Golouh, R, Ravnik-Glavac, M
Published in Pflügers Archiv (2000)

Get full text

Journal Article

Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability

Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability

by Potocnik, Uros, Ravnik-Glavac, Metka, Glavac, Damjan
Published in Cellular & molecular biology letters (2002)

Get full text

Journal Article

Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population

Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population

by Ravnik-Glavac, M, Gasparini, P, Peterlin, B, Strukelj, M, Glavac, D, Canki-Klain, N, Pignatti, P F, Komel, R
Published in Annales de génétique (1992)

Get more information

Journal Article

Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates

Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates

by Glavac, D, Ravnik-Glavac, M, Potocnik, U, Dean, M, Wine, J
Published in Pflügers Archiv (2000)

Get full text

Journal Article