Search the collection

40 results for Grønskov,+Karen

Sort by:

Sort by

Limit results to:

20 per page

40 results for Grønskov,+Karen

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Oculocutaneous albinism
Author / Creator:Grønskov, Karen ; Ek, Jakob ; Brondum-Nielsen, Karen
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2007-11, Vol.2 (1), p.43-43, Article 43
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Author / Creator:Brioude, Frédéric ; Kalish, Jennifer M. ; Mussa, Alessandro ; Foster, Alison C. ; Bliek, Jet ; Ferrero, Giovanni Battista ; Boonen, Susanne E. ; Cole, Trevor ; Baker, Robert ; Bertoletti, Monica ; Cocchi, Guido ; Coze, Carole ; De Pellegrin, Maurizio ; Hussain, Khalid ; Ibrahim, Abdulla ; Kilby, Mark D. ; Krajewska-Walasek, Malgorzata ; Kratz, Christian P. ; Ladusans, Edmund J. ; Lapunzina, Pablo ; Le Bouc, Yves ; Maas, Saskia M. ; Macdonald, Fiona ; Õunap, Katrin ; Peruzzi, Licia ; Rossignol, Sylvie ; Russo, Silvia ; Shipster, Caroleen ; Skórka, Agata ; Tatton-Brown, Katrina ; Tenorio, Jair ; Tortora, Chiara ; Grønskov, Karen ; Netchine, Irène ; Hennekam, Raoul C. ; Prawitt, Dirk ; Tümer, Zeynep ; Eggermann, Thomas ; Mackay, Deborah J. G. ; Riccio, Andrea ; Maher, Eamonn R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229-249
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Author / Creator:Wakeling, Emma L. ; Brioude, Frédéric ; Lokulo-Sodipe, Oluwakemi ; O'Connell, Susan M. ; Salem, Jennifer ; Bliek, Jet ; Canton, Ana P. M. ; Chrzanowska, Krystyna H. ; Davies, Justin H. ; Dias, Renuka P. ; Dubern, Béatrice ; Elbracht, Miriam ; Giabicani, Eloise ; Grimberg, Adda ; Grønskov, Karen ; Hokken-Koelega, Anita C. S. ; Jorge, Alexander A. ; Kagami, Masayo ; Linglart, Agnes ; Maghnie, Mohamad ; Mohnike, Klaus ; Monk, David ; Moore, Gudrun E. ; Murray, Philip G. ; Ogata, Tsutomu ; Petit, Isabelle Oliver ; Russo, Silvia ; Said, Edith ; Toumba, Meropi ; Tümer, Zeynep ; Binder, Gerhard ; Eggermann, Thomas ; Harbison, Madeleine D. ; Temple, I. Karen ; Mackay, Deborah J. G. ; Netchine, Irène
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2017-02, Vol.13 (2), p.105-124
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
Author / Creator:Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann ; Harris, Pernille ; Brøndum-Nielsen, Karen ; Andresen, Brage S. ; Rosenberg, Thomas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-01, Vol.9 (1), p.645-645, Article 645
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Author / Creator:Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric ; Algar, Elizabeth ; Buiting, Karin ; Russo, Silvia ; Tümer, Zeynep ; Monk, David ; Moore, Gudrun ; Antoniadi, Thalia ; Macdonald, Fiona ; Netchine, Irène ; Lombardi, Paolo ; Soellner, Lukas ; Begemann, Matthias ; Prawitt, Dirk ; Maher, Eamonn R ; Mannens, Marcel ; Riccio, Andrea ; Weksberg, Rosanna ; Lapunzina, Pablo ; Grønskov, Karen ; Mackay, Deborah JG ; Eggermann, Thomas
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
Author / Creator:Hey, Caroline Amalie Brunbjerg ; Larsen, Lasse Jonsgaard ; Tümer, Zeynep ; Brøndum-Nielsen, Karen ; Grønskov, Karen ; Hjortshøj, Tina Duelund ; Møller, Lisbeth Birk
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2021-01, Vol.22 (3), p.1345
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update
Author / Creator:Aamir, Abdullah ; Kuht, Helen J. ; Grønskov, Karen ; Brooks, Brian P. ; Thomas, Mervyn G.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1577-1583
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort
Author / Creator:Lisbjerg, Kristian ; Grønskov, Karen ; Bertelsen, Mette ; Møller, Lisbeth Birk ; Kessel, Line
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (2), p.435
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Genetic and Clinical Characterization of Danish Achromatopsia Patients
Author / Creator:Andersen, Mette Kjøbæk Gundestrup ; Bertelsen, Mette ; Grønskov, Karen ; Kohl, Susanne ; Kessel, Line
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (3), p.690
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
A nonsense mutation in FMR1 causing fragile X syndrome
Author / Creator:Grønskov, Karen ; Brøndum-Nielsen, Karen ; Dedic, Alma ; Hjalgrim, Helle
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.489-491
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition
Author / Creator:Wadt, Karin A. W. ; Aoude, Lauren G. ; Krogh, Lotte ; Sunde, Lone ; Bojesen, Anders ; Grønskov, Karen ; Wartacz, Nine ; Ek, Jakob ; Tolstrup-Andersen, Morten ; Klarskov-Andersen, Mette ; Borg, Åke ; Heegaard, Steffen ; Kiilgaard, Jens F. ; Hansen, Thomas V. O. ; Klein, Kerenaftali ; Jönsson, Göran ; Drzewiecki, Krzysztof T. ; Dunø, Morten ; Hayward, Nicholas K. ; Gerdes, Anne-Marie
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0122662-e0122662
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Clinical utility gene card for: Oculocutaneous albinism
Author / Creator:Grønskov, Karen ; Brøndum-Nielsen, Karen ; Lorenz, Birgit ; Preising, Markus N
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1054-1054
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function
Author / Creator:Roos, Laura ; Bertelsen, Birgitte ; Harris, Pernille ; Bygum, Anette ; Jensen, Hanne ; Grønskov, Karen ; Tümer, Zeynep
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2015-06, Vol.16 (1), p.40-40, Article 40
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
A Homogeneous Assay for Analysis of FMR1 Promoter Methylation in Patients with Fragile X Syndrome
Author / Creator:Dahl, Christina ; Gronskov, Karen ; Larsen, Lars A ; Guldberg, Per ; Brondum-Nielsen, Karen
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.790-793
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
Author / Creator:Hilgert, Nele ; Huentelman, Matthew J ; Thorburn, Ashley Q ; Fransen, Erik ; Dieltjens, Nele ; Mueller-Malesinska, Malgorzata ; Pollak, Agnieszka ; Skorka, Agata ; Waligora, Jaroslaw ; Ploski, Rafal ; Castorina, Pierangela ; Primignani, Paola ; Ambrosetti, Umberto ; Murgia, Alessandra ; Orzan, Eva ; Pandya, Arti ; Arnos, Kathleen ; Norris, Virginia ; Seeman, Pavel ; Janousek, Petr ; Feldmann, Delphine ; Marlin, Sandrine ; Denoyelle, Françoise ; Nishimura, Carla J ; Janecke, Andreas ; Nekahm-Heis, Doris ; Martini, Alessandro ; Mennucci, Elena ; Tóth, Timea ; Sziklai, Istvan ; del Castillo, Ignacio ; Moreno, Felipe ; Petersen, Michael B ; Iliadou, Vasiliki ; Tekin, Mustafa ; Incesulu, Armagan ; Nowakowska, Ewa ; Bal, Jerzy ; Van de Heyning, Paul ; Roux, Anne-Françoise ; Blanchet, Catherine ; Goizet, Cyril ; Lancelot, Guenaëlle ; Fialho, Graça ; Caria, Helena ; Liu, Xue Zhong ; Xiaomei, Ouyang ; Govaerts, Paul ; Grønskov, Karen ; Hostmark, Karianne ; Frei, Klemens ; Dhooge, Ingeborg ; Vlaeminck, Stephen ; Kunstmann, Erdmute ; Van Laer, Lut ; Smith, Richard JH ; Van Camp, Guy
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-04, Vol.17 (4), p.517-524
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
Author / Creator:Stoltze, Ulrik Kristoffer ; Hildonen, Mathis ; Hansen, Thomas Van Overeem ; Foss-Skiftesvik, Jon ; Byrjalsen, Anna ; Lundsgaard, Malene ; Pignata, Laura ; Grønskov, Karen ; Tumer, Zeynep ; Schmiegelow, Kjeld ; Brok, Jesper Sune ; Wadt, Karin A W
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-09, Vol.60 (9), p.842-849
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Normal RNAi response in human fragile x fibroblasts
Author / Creator:Madsen, Charlotte ; Grønskov, Karen ; Brøndum-Nielsen, Karen ; Jensen, Thomas G
Publisher:England: BioMed Central Ltd
Journal title:BMC research notes, 2009-09, Vol.2, p.177-177
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Author / Creator:Eggermann, Thomas ; Perez de Nanclares, Guiomar ; Maher, Eamonn R. ; Temple, I. Karen ; Tümer, Zeynep ; Monk, David ; Mackay, Deborah J. G. ; Grønskov, Karen ; Riccio, Andrea ; Linglart, Agnès ; Netchine, Irène
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2015-11, Vol.7 (1), p.123-123, Article 123
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Author / Creator:Stoltze, Ulrik Kristoffer ; Hansen, Thomas Van Overeem ; Brok, Jesper Sune ; Grønskov, Karen ; Tumer, Asuman Z ; Ahlborn, Lise Barlebo ; Schmiegelow, Kjeld ; Wadt, Karin A W
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-02, Vol.60 (2), p.128-130
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 40 results

Export record to excel

Export this record

Export record to excel

Oculocutaneous albinism

Export this record

Export record to excel

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Export this record

Export record to excel

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Export this record

Export record to excel

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

Export this record

Export record to excel

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Export this record

Export record to excel

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

Export this record

Export record to excel

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

Export this record

Export record to excel

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

Export this record

Export record to excel

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Export this record

Export record to excel

A nonsense mutation in FMR1 causing fragile X syndrome

Export this record

Export record to excel

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

Export this record

Export record to excel

Clinical utility gene card for: Oculocutaneous albinism

Export this record

Export record to excel

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

Export this record

Export record to excel

A Homogeneous Assay for Analysis of FMR1 Promoter Methylation in Patients with Fragile X Syndrome

Export this record

Export record to excel

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Export this record

Export record to excel

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

Export this record

Export record to excel

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

Export this record

Export record to excel

Normal RNAi response in human fragile x fibroblasts

Export this record

Export record to excel

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Export this record

Export record to excel

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Refine your search