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
Skeletal ciliopathies: a pattern recognition approach
Handa, Atsuhiko, Voss, Ulrika, Hammarsjö, Anna, Grigelioniene, Giedre, Nishimura, Gen
Published in Japanese journal of radiology (01.03.2020)
Published in Japanese journal of radiology (01.03.2020)
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Journal Article
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study
Andersson, Kristofer, Dahllöf, Göran, Lindahl, Katarina, Kindmark, Andreas, Grigelioniene, Giedre, Åström, Eva, Malmgren, Barbro
Published in PloS one (12.05.2017)
Published in PloS one (12.05.2017)
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Journal Article
SLC4A2 Deficiency Causes a New Type of Osteopetrosis
Xue, Jing‐Yi, Grigelioniene, Giedre, Wang, Zheng, Nishimura, Gen, Iida, Aritoshi, Matsumoto, Naomichi, Tham, Emma, Miyake, Noriko, Ikegawa, Shiro, Guo, Long
Published in Journal of bone and mineral research (01.02.2022)
Published in Journal of bone and mineral research (01.02.2022)
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Journal Article
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T, Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S, Kurdi, Wesam I Y, Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S, Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S, Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H
Published in The Journal of experimental medicine (02.03.2020)
Published in The Journal of experimental medicine (02.03.2020)
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Journal Article
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker, Andrea, Neumeyer, Luitgard, Hertel, Niels Thomas, Grigelioniene, Giedre, Mäkitie, Outi, Mohnike, Klaus, Hagenäs, Lars
Published in American journal of medical genetics. Part A (01.08.2018)
Published in American journal of medical genetics. Part A (01.08.2018)
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Journal Article
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
Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics
Suzuki, Hiroshi I., Spengler, Ryan M., Grigelioniene, Giedre, Kobayashi, Tatsuya, Sharp, Phillip A.
Published in Nature genetics (01.05.2018)
Published in Nature genetics (01.05.2018)
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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
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan, Fulya, Costantini, Alice, Coles, Nicole, Pekkinen, Minna, Héon, Elise, Şıklar, Zeynep, Berberoğlu, Merih, Kämpe, Anders, Kıykım, Ertuğrul, Grigelioniene, Giedre, Tüysüz, Beyhan, Mäkitie, Outi
Published in Journal of bone and mineral research (01.08.2016)
Published in Journal of bone and mineral research (01.08.2016)
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Journal Article
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Merker, Andrea, Neumeyer, Luitgard, Hertel, Niels Thomas, Grigelioniene, Giedre, Mohnike, Klaus, Hagenäs, Lars
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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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
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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Journal Article
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S, Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E, Lachman, Ralph S, Nishimura, Gen, Grigelioniene, Giedre
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Journal Article
Defining the clinical phenotype of Saul–Wilson syndrome
Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M, Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A, Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F, Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro
Published in PloS one (14.03.2016)
Published in PloS one (14.03.2016)
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Journal Article
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
Young, Cameron, Batkovskyte, Dominyka, Kitamura, Miyuki, Shvedova, Maria, Mihara, Yutaro, Akiba, Jun, Zhou, Wen, Hammarsjö, Anna, Nishimura, Gen, Yatsuga, Shuichi, Grigelioniene, Giedre, Kobayashi, Tatsuya
Published in HGG advances (12.01.2023)
Published in HGG advances (12.01.2023)
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Journal Article
Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Heinz-Erian, Peter, Müller, Thomas, Krabichler, Birgit, Schranz, Melanie, Becker, Christian, Rüschendorf, Franz, Nürnberg, Peter, Rossier, Bernard, Vujic, Mihailo, Booth, Ian W., Holmberg, Christer, Wijmenga, Cisca, Grigelioniene, Giedre, Kneepkens, C. M. Frank, Rosipal, Stefan, Mistrik, Martin, Kappler, Matthias, Michaud, Laurent, Dóczy, Ludwig-Christoph, Siu, Victoria Mok, Krantz, Marie, Zoller, Heinz, Utermann, Gerd, Janecke, Andreas R.
Published in American journal of human genetics (13.02.2009)
Published in American journal of human genetics (13.02.2009)
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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