Works matching AU Cathrine Jespersgaard

Results: 22

Disease Concordance, Zygosity, and NOD2/CARD15 Status: Follow-Up of a Population-Based Cohort of Danish Twins with Inflammatory Bowel Disease.

Published in:

American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 11, p. 2486, doi. 10.1111/j.1572-0241.2005.00224.x

By:

Jess, Tine;
Riis, Lene;
Jespersgaard, Cathrine;
Hougs, Lotte;
Andersen, Paal Skytt;
Orholm, Marianne K;
Binder, Vibeke;
Munkholm, Pia

Publication type:

Article

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Published in:

PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007780

By:

Nazaryan-Petersen, Lusine;
Eisfeldt, Jesper;
Pettersson, Maria;
Lundin, Johanna;
Nilsson, Daniel;
Wincent, Josephine;
Lieden, Agne;
Lovmar, Lovisa;
Ottosson, Jesper;
Gacic, Jelena;
Mäkitie, Outi;
Nordgren, Ann;
Vezzi, Francesco;
Wirta, Valtteri;
Käller, Max;
Hjortshøj, Tina Duelund;
Jespersgaard, Cathrine;
Houssari, Rayan;
Pignata, Laura;
Bak, Mads

Publication type:

Article

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473

By:

Bisgaard, Anne‐Marie;
Schönewolf‐Greulich, Bitten;
Jespersgaard, Cathrine;
Tümer, Zeynep;
Dunø, Morten;
Brøndum‐Nielsen, Karen;
Rokkjær, Mette;
Hansen, Lars K.;
Tsoutsou, Eirini;
Sofokleous, Christalena;
Topcu, Meral;
Kaur, Simran;
Van Bergen, Nicole J.;
Christodoulou, John;
Larsen, Martin J.;
Sørensen, Kristina P.;
Fagerberg, Christina R.

Publication type:

Article

Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.

Published in:

2011

By:

Harboe, Theresa Larriba;
Willems, Patrick;
Jespersgaard, Cathrine;
Mølgaard Poulsen, Marie Louise;
Sørensen, Flemming Brandt;
Bisgaard, Marie Luise;
Mølgaard Poulsen, Marie Louise;
Sørensen, Flemming Brandt

Publication type:

journal article

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2145, doi. 10.1093/hmg/ddae134

By:

Sarusie, Menachem V K;
Rönnbäck, Cecilia;
Jespersgaard, Cathrine;
Baungaard, Sif;
Ali, Yeasmeen;
Kessel, Line;
Christensen, Søren T;
Brøndum-Nielsen, Karen;
Møllgård, Kjeld;
Rosenberg, Thomas;
Larsen, Lars A;
Grønskov, Karen

Publication type:

Article

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Published in:

Genes, 2020, v. 11, n. 12, p. 1517, doi. 10.3390/genes11121517

By:

Jespersgaard, Cathrine;
Bertelsen, Mette;
Arif, Farah;
Gellert-Kristensen, Helene Gry;
Fang, Mingyan;
Jensen, Hanne;
Rosenberg, Thomas;
Tümer, Zeynep;
Møller, Lisbeth Birk;
Brøndum-Nielsen, Karen;
Grønskov, Karen

Publication type:

Article

Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.

Published in:

2011

By:

Jespersgaard, Cathrine;
Fode, Peder;
Dybdahl, Marianne;
Vind, Ida;
Nielsen, Ole;
Csillag, Claudio;
Munkholm, Pia;
Vainer, Ben;
Riis, Lene;
Elkjaer, Margarita;
Pedersen, Natalia;
Knudsen, Elisabeth;
Andersen, Paal;
Nielsen, Ole Haagen;
Andersen, Paal Skytt

Publication type:

journal article

Genetic and Environmental Factors in Monozygotic Twins with Crohn’s Disease and Their First-Degree Relatives: A Case Report.

Published in:

Digestion, 2005, v. 71, n. 4, p. 262, doi. 10.1159/000087053

By:

Vind, Ida;
Jespersgaard, Cathrine;
Hougs, Lotte;
Riis, Lene;
Dinesen, Lotte;
Andersen, Paal Skytt;
Locht, Henning;
Jess, Tine;
Munkholm, Pia

Publication type:

Article

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169

By:

Paal Skytt Andersen;
Cathrine Jespersgaard;
Jens Vuust;
Michael Christiansen;
Lars Allan Larsen

Publication type:

Article

Capillary electrophoresis‐based single strand DNA conformation analysis in high‐throughput mutation screeningCommunicated by Mireille Claustres.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169

By:

Paal Skytt Andersen;
Cathrine Jespersgaard;
Jens Vuust;
Michael Christiansen;
Lars Allan Larsen

Publication type:

Article

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 116, doi. 10.1002/humu.10161

By:

Andersen, Paal Skytt;
Jespersgaard, Cathrine;
Vuust, Jens;
Christiansen, Michael;
Larsen, Lars Allan

Publication type:

Article

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38007-2

By:

Jespersgaard, Cathrine;
Fang, Mingyan;
Bertelsen, Mette;
Dang, Xiao;
Jensen, Hanne;
Chen, Yulan;
Bech, Niels;
Dai, Lanlan;
Rosenberg, Thomas;
Zhang, Jianguo;
Møller, Lisbeth Birk;
Tümer, Zeynep;
Brøndum-Nielsen, Karen;
Grønskov, Karen

Publication type:

Article

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37272-5

By:

Grønskov, Karen;
Jespersgaard, Cathrine;
Bruun, Gitte Hoffmann;
Harris, Pernille;
Brøndum-Nielsen, Karen;
Andresen, Brage S.;
Rosenberg, Thomas

Publication type:

Article

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1447, doi. 10.1002/ajmg.a.35901

By:

Sibbesen, Else la Cour;
Jespersgaard, Cathrine;
Alosi, Daniela;
Bisgaard, Anne‐Marie;
Tümer, Zeynep

Publication type:

Article

Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 117, doi. 10.1186/1471-2350-11-117

By:

Møller, Daniel V.;
Pecini, Redi;
Gustafsson, Finn;
Hassager, Christian;
Hedley, Paula;
Jespersgaard, Cathrine;
Torp-Pedersen, Christian;
Christiansen, Michael;
Køber, Lars V.

Publication type:

Article

Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics.

Published in:

Electrophoresis, 2006, v. 27, n. 19, p. 3816

By:

Cathrine Jespersgaard;
Lars Allan Larsen;
Shingo Baba;
Yoji Kukita;
Tomoko Tahira;
Michael Christiansen;
Jens Vuust;
Kenshi Hayashi;
Paal Skytt Andersen

Publication type:

Article

Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Published in:

Cardiovascular Journal of Africa, 2013, v. 24, n. 6, p. 231, doi. 10.5830/CVJA-2013-032

By:

HEDLEY, PAULA L.;
DURRHEIM, GLENDA A.;
HENDRICKS, FIRZANA;
GOOSEN, ALTHEA;
JESPERSGAARD, CATHRINE;
STØVRING, BIRGITTE;
PHAM, TAM T.;
CHRISTIANSEN, MICHAEL;
BRINK, PAUL A.;
CORFIELD, VALERIE A.

Publication type:

Article

Genetic Variability in Beta-Defensins Is Not Associated with Susceptibility to Staphylococcus aureus Bacteremia.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032315

By:

Fode, Peder;
Larsen, Anders Rhod;
Feenstra, Bjarke;
Jespersgaard, Cathrine;
Skov, Robert Leo;
Stegger, Marc;
Fowler, Vance G. Jr.;
Andersen, Paal Skytt

Publication type:

Article

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods.

Published in:

PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016768

By:

Fode, Peder;
Jespersgaard, Cathrine;
Hardwick, Robert J.;
Bogle, Helen;
Theisen, Michael;
Dodoo, Daniel;
Lenicek, Martin;
Vitek, Libor;
Vieira, Ana;
Freitas, Joao;
Andersen, Paal Skytt;
Hollox, Edward J.

Publication type:

Article

Human and mouse mitochondrial orthologs of bacterial ClpX.

Published in:

Mammalian Genome, 2000, v. 11, n. 10, p. 899, doi. 10.1007/s003350010173

By:

Corydon, Thomas J.;
Wilsbech, Mette;
Jespersgaard, Cathrine;
Andresen, Brage S.;
Børglum, Anders D.;
Pedersen, Søren;
Bolund, Lars;
Gregersen, Niels;
Bross, Peter

Publication type:

Article

Polymorphisms in inflammation genes, tobacco smoke and furred pets and wheeze in children.

Published in:

Pediatric Allergy & Immunology, 2009, v. 20, n. 7, p. 614, doi. 10.1111/j.1399-3038.2009.00855.x

By:

Sørensen, Mette;
Allermann, Leila;
Vogel, Ulla;
Andersen, Paal Skytt;
Jespersgaard, Cathrine;
Loft, Steffen;
Raaschou-Nielsen, Ole

Publication type:

Article

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0220-5

By:

Jespersgaard, Cathrine;
Damgaard, Ida N.;
Cornelius, Nanna;
Bache, Iben;
Knabe, Niels;
Miranda, Maria J.;
Tümer, Zeynep

Publication type:

Article