Publications by authors named "Eva Horemuzova"

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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, Eva Horemuzova

NPJ Genom Med· November 2023

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Case Report: Inversion of - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Giedre Grigelioniene

Front Endocrinol (Lausanne)· July 2022

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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Anna Hammarsjö, Maria Pettersson, David Chitayat, Atsuhiko Handa, Britt-Marie Anderlid, Eva Horemuzova

J Hum Genet· October 2021

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Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.
Alexandra Gkourogianni, Anenisia C Andrade, Björn-Anders Jonsson, Emma Segerlund, Antje Werner-Sperker, Eva Horemuzova

Acta Paediatr· October 2020

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Giedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi U Borochowitz, Eva Horemuzova

Nat Med· April 2019

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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M B Carvalho, Eva Horemuzova

Hum Mutat· October 2018

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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, Débora Romeo Bertola, Eva Åström, Eva Horemuzova

J Bone Miner Res· April 2018

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Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova

Front Endocrinol (Lausanne)· March 2018

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Zheng Wang, Eva Horemuzova, Aritoshi Iida, Long Guo, Ying Liu

J Hum Genet· April 2017

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Autosomal recessive brachyolmia: early radiological findings.
Atsuhiko Handa, Emma Tham, Zheng Wang, Eva Horemuzova, Giedre Grigelioniene

Skeletal Radiol· November 2016

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Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Giedre Grigelioniene, Stefan Geiberger, Eva Horemuzova, Eva Moström, Nina Jäntti

Am J Med Genet A· July 2014

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Growth charts and long-term sequelae in extreme preterm infants--from full-term age to 10 years.
Eva Horemuzova, Per Amark, Lena Jacobson, Olle Söder, Lars Hagenäs

Acta Paediatr· January 2014

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Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Aritoshi Iida, Pelin Özlem Simsek-Kiper, Shuji Mizumoto, Touma Hoshino, Nursel Elcioglu, Eva Horemuzova

Hum Mutat· October 2013

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FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Sheila Unger, Maria W Górna, Antony Le Béchec, Sonia Do Vale-Pereira, Maria Francesca Bedeschi, Eva Horemuzova

Am J Hum Genet· June 2013

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Visual impairment is common in children born before 25 gestational weeks--boys are more vulnerable than girls.
Lena Jacobson, Anna-Lena Hård, Eva Horemuzova, Hannah Hammarén, Ann Hellström

Acta Paediatr· February 2009

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