Works by Gaustadnes, Mette

Results: 16

Leiden open variation database of the MUTYH gene.

Published in:

2010

By:

Out, Astrid A.;
Tops, Carli M.J.;
Nielsen, Maartje;
Weiss, Marjan M.;
van Minderhout, Ivonne J.H.M.;
Fokkema, Ivo F.A.C.;
Buisine, Marie-Pierre;
Claes, Kathleen;
Colas, Chrystelle;
Fodde, Riccardo;
Fostira, Florentia;
Franken, Patrick F.;
Gaustadnes, Mette;
Heinimann, Karl;
Hodgson, Shirley V.;
Hogervorst, Frans B.L.;
Holinski-Feder, Elke;
Lagerstedt-Robinson, Kristina;
Olschwang, Sylviane;
Ans M.W., van den Ouweland

Publication type:

Other

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 255, doi. 10.1002/humu.20430

By:

Vyletal, Petr;
Sokolová, Jitka;
Cooper, David N.;
Kraus, Jan P.;
Krawczak, Michael;
Pepe, Guglielmina;
Rickards, Olga;
Koch, Hans G.;
Linnebank, Michael;
Kluijtmans, Leo A. J.;
Blom, Henk J.;
Boers, Godfried H. J.;
Gaustadnes, Mette;
Skovby, Flemming;
Wilcken, Bridget;
Wilcken, David E. L.;
Andria, Generoso;
Sebastio, Gianfranco;
Naughten, Eileen R.;
Yap, Sufin

Publication type:

Article

Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 187, doi. 10.1002/humu.20248

By:

Gaustadnes, Mette;
Ørntoft, Torben F.;
Jensen, Jens Ledet;
Torring, Niels

Publication type:

Article

The molecular basis of cystathionine β-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment.

Published in:

Human Mutation, 2002, v. 20, n. 2, p. 117, doi. 10.1002/humu.10104

By:

Gaustadnes, Mette;
Wilcken, Bridget;
Oliveriusova, Jana;
McGill, Jim;
Fletcher, Janice;
Kraus, Jan P.;
Wilcken, David E.

Publication type:

Article

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations.

Published in:

Human Mutation, 2002, v. 19, n. 6, p. 641, doi. 10.1002/humu.10089

By:

Maclean, Kenneth N.;
Gaustadnes, Mette;
Oliveriusová, Jana;
Janošík, Miroslav;
Kraus, Eva;
Kožich, Viktor;
Kery, Vladimír;
Skovby, Flemming;
Rüdiger, Niels;
Ingerslev, Jørgen;
Stabler, Sally P.;
Allen, Robert H.;
Kraus, Jan P.

Publication type:

Article

Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997–2014: A Nationwide Study.

Published in:

Thyroid, 2019, v. 29, n. 3, p. 368, doi. 10.1089/thy.2018.0564

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Londero, Stefano Christian;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Founder Effect of the RET<sup>C611Y</sup> Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Published in:

Thyroid, 2017, v. 27, n. 12, p. 1505, doi. 10.1089/thy.2017.0404

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Gaustadnes, Mette;
Ørntoft, Torben Falck;
Rossing, Maria;
Nielsen, Finn Cilius;
Albrechtsen, Anders;
Brixen, Kim;
Godballe, Christian;
Frederiksen, Anja Lisbeth

Publication type:

Article

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Published in:

Thyroid, 2017, v. 27, n. 2, p. 215, doi. 10.1089/thy.2016.0411

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Gaustadnes, Mette;
Ørntoft, Torben Falck;
van Overeem Hansen, Thomas;
Nielsen, Finn Cilius;
Brixen, Kim;
Godballe, Christian;
Frederiksen, Anja Lisbeth

Publication type:

Article

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Published in:

2015

By:

Groth, Kristian A.;
Hove, Hanne;
Kyhl, Kasper;
Folkestad, Lars;
Gaustadnes, Mette;
Vejlstrup, Niels;
Stochholm, Kirstine;
Østergaard, John R.;
Andersen, Niels H.;
Gravholt, Claus H.

Publication type:

journal article

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87686-x

By:

Ejerskov, Cecilie;
Gaustadnes, Mette;
Ostergaard, John R.;
Krogh, klaus;
Thorsen, Kasper;
Borglum, Anders D.;
Haagerup, Annette

Publication type:

Article

RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Study.

Published in:

Cancers, 2025, v. 17, n. 3, p. 374, doi. 10.3390/cancers17030374

By:

Hansen, Anders Würgler;
Vestergaard, Peter;
Poulsen, Morten Møller;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Madsen, Mette;
Næraa, Rune Weis;
Hansen, Dorte;
Main, Katharina;
Pedersen, Henrik Baymler;
Londero, Stefano Christian;
Rolighed, Lars;
Hahn, Christoffer Holst;
Rask, Klara Bay;
Maare, Christian;
Nielsen, Heidi Hvid;
Gaustadnes, Mette;
Rossing, Maria;
Hermann, Pernille;
Mathiesen, Jes Sloth

Publication type:

Article

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930–2021.

Published in:

Cancers, 2023, v. 15, n. 7, p. 2125, doi. 10.3390/cancers15072125

By:

Holm, Magnus;
Vestergaard, Peter;
Poulsen, Morten Møller;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Bay, Mette;
Rolighed, Lars;
Londero, Stefano;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Rask, Klara Bay;
Nielsen, Heidi Hvid;
Gaustadnes, Mette;
Rossing, Maria Caroline;
Hermann, Anne Pernille;
Godballe, Christian;
Mathiesen, Jes Sloth

Publication type:

Article

Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997–2013: a nationwide study.

Published in:

Clinical Epidemiology, 2019, v. 11, p. 93, doi. 10.2147/CLEP.S183268

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Londero, Stefano Christian;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study.

Published in:

Clinical Epidemiology, 2018, v. 10, p. 1479, doi. 10.2147/CLEP.S174606

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Schytte, Sten;
Pedersen, Henrik Baymler;
Hahn, Christoffer Holst;
Bentzen, Jens;
Möller, Sören;
Gaustadnes, Mette;
Rossing, Maria;
Nielsen, Finn Cilius;
Brixen, Kim;
Frederiksen, Anja Lisbeth;
Godballe, Christian

Publication type:

Article

Long‐term follow‐up of RET Y791F carriers in Denmark 1994‐2017: A National Cohort Study.

Published in:

Journal of Surgical Oncology, 2019, v. 119, n. 6, p. 687, doi. 10.1002/jso.25371

By:

Høxbroe Michaelsen, Sanne;
Ornstrup, Marie Juul;
Poulsen, Morten Møller;
Bennedbæk, Finn Noe;
Gaustadnes, Mette;
Rossing, Maria;
Darling, Peter;
Vestergaard, Peter;
Mathiesen, Jes Sloth

Publication type:

Article

Cystathionine β-synthase mutations in homocystinuria.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 362, doi. 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K

By:

Kraus, Jan P.;
Janošík, Miroslav;
Kožich, Viktor;
Mandell, Roseann;
Shih, Vivian;
Sperandeo, M.P.;
Sebastio, Gianfranco;
de Franchis, Raffaella;
Andria, Generoso;
Kluijtmans, Leo A.J.;
Blom, Henk;
Boers, Godfried H.J.;
Gordon, Ross B.;
Kamoun, Pierre;
Tsai, Michael Y.;
Kruger, Warren D.;
Koch, Hans G.;
Ohura, Toshihiro;
Gaustadnes, Mette

Publication type:

Article