Works by Riise Stensland, Hilde Monica Frostad

Results: 11

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0286-x

By:

Borgwardt, Line;
Frostad Riise Stensland, Hilde Monica;
Olsen, Klaus Juul;
Wibrand, Flemming;
Klenow, Helle Bagterp;
Beck, Michael;
Amraoui, Yasmina;
Arash, Laila;
Fogh, Jens;
Nilssen, Øivind;
Dali, Christine I.;
Meldgaard Lund, Allan

Publication type:

Article

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Published in:

2015

By:

Borgwardt, Line;
Stensland, Hilde Monica Frostad Riise;
Olsen, Klaus Juul;
Wibrand, Flemming;
Klenow, Helle Bagterp;
Beck, Michael;
Amraoui, Yasmina;
Arash, Laila;
Fogh, Jens;
Nilssen, øivind;
Dali, Christine I;
Lund, Allan Meldgaard;
Nilssen, Øivind

Publication type:

journal article

Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787

By:

Riise Stensland, Hilde Monica Frostad;
Frantzen, Gabrio;
Kuokkanen, Elina;
Buvang, Elisabeth Kjeldsen;
Klenow, Helle Bagterp;
Heikinheimo, Pirkko;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55515-x

By:

Jarhelle, Elisabeth;
Riise Stensland, Hilde Monica Frostad;
Hansen, Geir Åsmund Myge;
Skarsfjord, Siri;
Jonsrud, Christoffer;
Ingebrigtsen, Monica;
Strømsvik, Nina;
Van Ghelue, Marijke

Publication type:

Article

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Published in:

Developmental Medicine & Child Neurology, 2007, v. 49, n. 11, p. 854, doi. 10.1111/j.1469-8749.2007.00854.x

By:

Lyons, Michael J.;
Wood, Tim;
Espinoza, Lesby;
Stensland, Hilde Monica Frostad Riise;
Holden, Kenton

Publication type:

Article

Clinical utility gene card for: α-Mannosidosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5

By:

Nilssen, Øivind;
Stensland, Hilde Monica Frostad Riise;
Malm, Dag

Publication type:

Article

Molecular and cellular characterization of novel α-mannosidosis mutations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 13, p. 2651, doi. 10.1093/hmg/ddr167

By:

Kuokkanen, Elina;
Riise Stensland, Hilde Monica Frostad;
Smith, Wesley;
Kjeldsen Buvang, Elisabeth;
Van Nguyen, Lam;
Nilssen, Øivind;
Heikinheimo, Pirkko

Publication type:

Article

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110

By:

Voigt, Claudia;
Mégarbané, André;
Neveling, Kornelia;
Czeschik, Johanna Christina;
Albrecht, Beate;
Callewaert, Bert;
Deimling, Florian von;
Hehr, Andreas;
Smeland, Marie Falkenberg;
König, Rainer;
Kuechler, Alma;
Marcelis, Carlo;
Puiu, Maria;
Reardon, Willie;
Riise Stensland, Hilde Monica Frostad;
Schweiger, Bernd;
Steehouwer, Marloes;
Teller, Christopher;
Martin, Marcel;
Rahmann, Sven

Publication type:

Article

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Published in:

2013

By:

Voigt, Claudia;
Mégarbané, André;
Neveling, Kornelia;
Czeschik, Johanna Christina;
Albrecht, Beate;
Callewaert, Bert;
von Deimling, Florian;
Hehr, Andreas;
Falkenberg Smeland, Marie;
König, Rainer;
Kuechler, Alma;
Marcelis, Carlo;
Puiu, Maria;
Reardon, Willie;
Riise Stensland, Hilde Monica Frostad;
Schweiger, Bernd;
Steehouwer, Marloes;
Teller, Christopher;
Martin, Marcel;
Rahmann, Sven

Publication type:

journal article