Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal, Gabriela Ferraz, Nishimura, Gen, Voss, Ulrika, Bertola, Débora Romeo, Åström, Eva, Svensson, Johan, Yamamoto, Guilherme Lopes, Hammarsjö, Anna, Horemuzova, Eva, Papadogiannakis, Nikos, Iwarsson, Erik, Grigelioniene, Giedre, Tham, Emma
Published in Journal of bone and mineral research (01.04.2018)
Published in Journal of bone and mineral research (01.04.2018)
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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
Gkourogianni, Alexandra, Andrade, Anenisia C., Jonsson, Björn‐Anders, Segerlund, Emma, Werner‐Sperker, Antje, Horemuzova, Eva, Dahlgren, Jovanna, Burstedt, Magnus, Nilsson, Ola
Published in Acta Paediatrica (01.10.2020)
Published in Acta Paediatrica (01.10.2020)
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Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham, E., Nishimura, G., Geiberger, S., Horemuzova, E., Nilsson, D., Lindstrand, A., Hammarsjö, A., Armenio, M., Mäkitie, O., Zabel, B., Nordgren, A., Nordenskjöld, M., Grigelioniene, G.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Mäkitie, O., Geiberger, S., Horemuzova, E., Hagenäs, L., Moström, E., Nordenskjöld, M., Grigelioniene, G., Nordgren, A.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Journal Article
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Jacob, Prince, Lindelöf, Hillevi, Rustad, Cecilie F., Sutton, Vernon Reid, Moosa, Shahida, Udupa, Prajna, Hammarsjö, Anna, Bhavani, Gandham SriLakshmi, Batkovskyte, Dominyka, Tveten, Kristian, Dalal, Ashwin, Horemuzova, Eva, Nordgren, Ann, Tham, Emma, Shah, Hitesh, Merckoll, Else, Orellana, Laura, Nishimura, Gen, Girisha, Katta M., Grigelioniene, Giedre
Published in Npj genomic medicine (22.11.2023)
Published in Npj genomic medicine (22.11.2023)
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Journal Article
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang, Zheng, Horemuzova, Eva, Iida, Aritoshi, Guo, Long, Liu, Ying, Matsumoto, Naomichi, Nishimura, Gen, Nordgren, Ann, Miyake, Noriko, Tham, Emma, Grigelioniene, Giedre, Ikegawa, Shiro
Published in Journal of human genetics (01.04.2017)
Published in Journal of human genetics (01.04.2017)
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Journal Article
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Published in Nature medicine (01.04.2019)
Published in Nature medicine (01.04.2019)
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Journal Article
Inversion of LMX1B-a novel cause of nail-patella syndrome in a Swedish family
Lindelof, H, Horemuzova, E, Nordgren, A, Voss, U, Hammarsjo, A, Grigelioniene, G
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Conference Proceeding
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, Bedeschi, Maria Francesca, Geiberger, Stefan, Grigelioniene, Giedre, Horemuzova, Eva, Lalatta, Faustina, Lausch, Ekkehart, Magnani, Cinzia, Nampoothiri, Sheela, Nishimura, Gen, Petrella, Duccio, Rojas-Ringeling, Francisca, Utsunomiya, Akari, Zabel, Bernhard, Pradervand, Sylvain, Harshman, Keith, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Giulio, Stevenson, Brian, Superti-Furga, Andrea
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Journal Article
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M, Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E, Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S, Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Journal Article
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Lindelöf, Hillevi, Horemuzova, Eva, Voss, Ulrika, Nordgren, Ann, Grigelioniene, Giedre, Hammarsjö, Anna
Published in Frontiers in endocrinology (Lausanne) (13.06.2022)
Published in Frontiers in endocrinology (Lausanne) (13.06.2022)
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Journal Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson, Maria, Vaz, Raquel, Hammarsjö, Anna, Eisfeldt, Jesper, Carvalho, Claudia M.B., Hofmeister, Wolfgang, Tham, Emma, Horemuzova, Eva, Voss, Ulrika, Nishimura, Gen, Klintberg, Bo, Nordgren, Ann, Nilsson, Daniel, Grigelioniene, Giedre, Lindstrand, Anna
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
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Journal Article
Autosomal recessive brachyolmia: early radiological findings
Handa, Atsuhiko, Tham, Emma, Wang, Zheng, Horemuzova, Eva, Grigelioniene, Giedre
Published in Skeletal radiology (01.11.2016)
Published in Skeletal radiology (01.11.2016)
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Journal Article
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort
Utriainen, Pauliina, Valta, Helena, Björnsdottir, Sigridur, Mäkitie, Outi, Horemuzova, Eva
Published in Frontiers in endocrinology (Lausanne) (15.03.2018)
Published in Frontiers in endocrinology (Lausanne) (15.03.2018)
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Journal Article
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida, Aritoshi, Simsek-Kiper, Pelin Özlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hülya, Utine, Gülen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
Growth charts and long-term sequelae in extreme preterm infants - from full-term age to 10 years
Horemuzova, Eva, Åmark, Per, Jacobson, Lena, Söder, Olle, Hagenäs, Lars
Published in Acta Paediatrica (01.01.2014)
Published in Acta Paediatrica (01.01.2014)
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Journal Article
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Grigelioniene, Giedre, Geiberger, Stefan, Horemuzova, Eva, Moström, Eva, Jäntti, Nina, Neumeyer, Lo, Åström, Eva, Nordenskjöld, Magnus, Nordgren, Ann, Mäkitie, Outi
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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