Search Results - Grigelioniene, Giedre

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  1. 1
    Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

    Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways by Grigelioniene, Giedre, Nishimura, Gen

    Published 2020
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  2. 2
    Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

    Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up by Lindelöf, Hillevi, Horemuzova, Eva, Voss, Ulrika, Nordgren, Ann, Grigelioniene, Giedre, Hammarsjö, Anna

    Published 2022
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  3. 3
    Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics

    Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics by Suzuki, Hiroshi I., Spengler, Ryan M., Grigelioniene, Giedre, Kobayashi, Tatsuya, Sharp, Phillip A.

    Published 2018
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  4. 4
    Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

    Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study by Andersson, Kristofer, Dahllöf, Göran, Lindahl, Katarina, Kindmark, Andreas, Grigelioniene, Giedre, Åström, Eva, Malmgren, Barbro

    Published 2017
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  5. 5
    Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

    Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta by Lindahl, Katarina, Åström, Eva, Rubin, Carl-Johan, Grigelioniene, Giedre, Malmgren, Barbro, Ljunggren, Östen, Kindmark, Andreas

    Published 2015
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  6. 6
    Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

    Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta by Lindahl, Katarina, Åström, Eva, Rubin, Carl-Johan, Grigelioniene, Giedre, Malmgren, Barbro, Ljunggren, Östen, Kindmark, Andreas

    Published 2015
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  7. 7
    Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

    Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus by Hansson, Caisa M, Buckley, Patrick G, Grigelioniene, Giedre, Piotrowski, Arkadiusz, Hellström, Anders R, Mantripragada, Kiran, Jarbo, Caroline, Mathiesen, Tiit, Dumanski, Jan P

    Published 2007
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  8. 8
    Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

    Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion by Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald

    Published 2015
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  9. 9
    A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb

    A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb by Laurell, Tobias, VanderMeer, Julia E, Wenger, Aaron M., Grigelioniene, Giedre, Nordenskjöld, Agneta, Arner, Marianne, Ekblom, Anna Gerber, Bejerano, Gill, Ahituv, Nadav, Nordgren, Ann

    Published 2012
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  10. 10
    A large inversion involving GNAS exon A/B and all exons encoding Gsα is associated with autosomal dominant pseudohypoparathyroidism type Ib (PHP1B)

    A large inversion involving GNAS exon A/B and all exons encoding Gsα is associated with autosomal dominant pseudohypoparathyroidism type Ib (PHP1B) by Grigelioniene, Giedre, Nevalainen, Pasi I., Reyes, Monica, Thiele, Susanne, Tafaj, Olta, Molinaro, Angelo, Takatani, Rieko, Ala-Houhala, Marja, Nilsson, Daniel, Eisfeldt, Jesper, Lindstrand, Anna, Kottler, Marie-Laure, Mäkitie, Outi, Jüppner, Harald

    Published 2017
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  11. 11
    Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib

    Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib by Milioto, Angelo, Reyes, Monica, Hanna, Patrick, Kiuchi, Zentaro, Turan, Serap, Zeve, Daniel, Agarwal, Chhavi, Grigelioniene, Giedre, Chen, Ang, Mericq, Veronica, Frangos, Myrto, Ten, Svetlana, Mantovani, Giovanna, Salusky, Isidro B, Tebben, Peter, Jüppner, Harald

    Published 2021
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  12. 12
    Molecular and clinical delineation of the 17q22 microdeletion phenotype

    Molecular and clinical delineation of the 17q22 microdeletion phenotype by Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann

    Published 2013
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  13. 13
    Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

    Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease by Laurell, Tobias, Nilsson, Daniel, Hofmeister, Wolfgang, Lindstrand, Anna, Ahituv, Nadav, Vandermeer, Julia, Amilon, Anders, Annerén, Göran, Arner, Marianne, Pettersson, Maria, Jäntti, Nina, Rosberg, Hans-Eric, Cattini, Peter A, Nordenskjöld, Agneta, Mäkitie, Outi, Grigelioniene, Giedre, Nordgren, Ann

    Published 2014
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  14. 14
    Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

    Gain-of-function mutation of microRNA-140 in human skeletal dysplasia by 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 2019
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  15. 15
    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea by 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 2009
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  16. 16
    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development by 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 2013
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  17. 17
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations by 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 2016
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  18. 18
    Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome by 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 2020
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  19. 19
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... by Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

    Published 2019
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  20. 20
    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway by Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin

    Published 2014
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