Publications by authors named "Else Merckoll"

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A monoallelic UXS1 variant associated with short-limbed short stature.
Cecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten

Mol Genet Genomic Med· June 2024

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, Vernon Reid Sutton, Shahida Moosa, Else Merckoll

NPJ Genom Med· November 2023

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Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Cecilie F Rustad, Trine E Prescott, Else Merckoll, Erle Kristensen, Cathrin L Salvador

Am J Med Genet A· November 2022

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[Correction: A woman in her fifties with chronic muscle weakness].
Cecilie F Rustad, Kristian Tveten, Geir J Braathen, Else Merckoll, Eva Kirkhus

Tidsskr Nor Laegeforen· February 2022

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A comparison of 3 different methods for assessment of skeletal age when treating leg-length discrepancies: an inter- and intra-observer study.
Anne Berg Breen, Harald Steen, Are Pripp, Ragnhild Gunderson, Hilde Kristine Sandberg Mentzoni, Else Merckoll

Acta Orthop· January 2022

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A woman in her fifties with chronic muscle weakness.
Cecilie F Rustad, Kristian Tveten, Geir J Braathen, Else Merckoll, Eva Kirkhus

Tidsskr Nor Laegeforen· January 2022

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The modified Stulberg classification is a strong predictor of the radiological outcome 20 years after the diagnosis of Perthes' disease.
Stefan Huhnstock, Ola Wiig, Else Merckoll, Svein Svenningsen, Terje Terjesen

Bone Joint J· December 2021

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, Susan M Hiatt, Cecilie F Rustad, Else Merckoll

Am J Hum Genet· May 2021

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Functional and Structural Adaptations of Skeletal Muscle in Long-Term Juvenile Dermatomyositis: A Controlled Cross-Sectional Study.
Kristin Schjander Berntsen, Truls Raastad, Henriette Marstein, Eva Kirkhus, Else Merckoll

Arthritis Rheumatol· May 2020

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STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Thilini H Gamage, Emma Lengle, Gjermund Gunnes, Helen Pullisaar, Asbjørn Holmgren, Else Merckoll

Cell Calcium· January 2020

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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Lucy Bownass, Stephen Abbs, Ruth Armstrong, Genevieve Baujat, Gry Behzadi, Else Merckoll

Am J Med Genet A· September 2019

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Radiological glenohumeral osteoarthritis in long-term type 1 diabetes. Prevalence and reliability of three classification systems. The Dialong shoulder study.
Niels Gunnar Juel, Jens I Brox, Johan C Hellund, Else Merckoll, Kristine B Holte

Skeletal Radiol· September 2018

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Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis.
Jan Cezary Sitek, Else Merckoll, Per Arne Tølløfsrud

JAMA Dermatol· July 2018

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Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report.
Johan Steineger, Else Merckoll, John Magnar Slåstad, Erik Fink Eriksen, Ketil Heimdal

Laryngoscope· March 2018

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Radiographic classifications in Perthes disease.
Stefan Huhnstock, Svein Svenningsen, Else Merckoll, Anthony Catterall, Terje Terjesen

Acta Orthop· October 2017

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Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study.
Helena Andersson, Eva Kirkhus, Torhild Garen, Ragnhild Walle-Hansen, Else Merckoll

Arthritis Res Ther· January 2017

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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Else Merckoll

PLoS One· August 2016

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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Tuva Barøy, Janet Koster, Petter Strømme, Merel S Ebberink, Doriana Misceo, Else Merckoll

Hum Mol Genet· October 2015

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[Re: Special outpatient clinic for skeletal dysplasias].
Cecilie Rustad, Hilde Bjørndalen, Anne Grethe Myhre, Cathrine Alsaker Heier, Joachim Horn, Else Merckoll

Tidsskr Nor Laegeforen· May 2015

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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, Lars Mørkrid, Niti Y Chokshi, Else Merckoll

Am J Hum Genet· July 2014

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Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study.
Helga Sanner, Eva Kirkhus, Else Merckoll, Anita Tollisen, Mona Røisland

Arthritis Care Res (Hoboken)· August 2010

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Satisfactory long-term results after Eden-Hybbinette-Alvik operation for recurrent anterior dislocation of the shoulder: 6-20 years' follow-up of 52 patients.
Jens Ivar Brox, Anne Marie Finnanger, Else Merckoll, Paul Lereim

Acta Orthop Scand· April 2003

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Radiographic classification of glenohumeral arthrosis.
Jens Ivar Brox, Paul Lereim, Else Merckoll, Anne Marie Finnanger

Acta Orthop Scand· April 2003

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