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Items: 1 to 20 of 55

1.

Defining the clinical phenotype of Saul-Wilson syndrome.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0737-1. [Epub ahead of print]

PMID:
31949312
2.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
3.

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.

Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D.

Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1.

4.

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

Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T.

Nat Med. 2019 Apr;25(4):583-590. doi: 10.1038/s41591-019-0353-2. Epub 2019 Feb 25.

5.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

6.

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.

Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mohnike K, Hagenäs L.

Am J Med Genet A. 2018 Sep;176(9):1819-1829. doi: 10.1002/ajmg.a.40356. Epub 2018 Aug 27.

PMID:
30152086
7.

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A.

Hum Mutat. 2018 Oct;39(10):1456-1467. doi: 10.1002/humu.23605. Epub 2018 Aug 22.

PMID:
30080953
8.

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mäkitie O, Mohnike K, Hagenäs L.

Am J Med Genet A. 2018 Aug;176(8):1723-1734. doi: 10.1002/ajmg.a.38853. Epub 2018 Aug 2.

PMID:
30070757
9.

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.

Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G.

J Bone Miner Res. 2018 Jul;33(7):1377-1378. doi: 10.1002/jbmr.3460. Epub 2018 Jun 7. No abstract available.

10.

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

Suzuki HI, Spengler RM, Grigelioniene G, Kobayashi T, Sharp PA.

Nat Genet. 2018 May;50(5):657-661. doi: 10.1038/s41588-018-0104-1. Epub 2018 Apr 16.

11.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E.

J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4.

12.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

13.

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoğlu S, Ekbote A, Aycan Z, Sağsak E, Danda S, Åström E, Mäkitie O.

Am J Med Genet A. 2017 Dec;173(12):3132-3135. doi: 10.1002/ajmg.a.38491. Epub 2017 Oct 21. No abstract available.

PMID:
29055141
14.

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B.

PLoS One. 2017 May 12;12(5):e0176466. doi: 10.1371/journal.pone.0176466. eCollection 2017.

15.

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S.

J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26.

PMID:
28123176
16.

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H.

J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24.

17.

Autosomal recessive brachyolmia: early radiological findings.

Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G.

Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21.

PMID:
27544198
18.

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

Malmgren B, Andersson K, Lindahl K, Kindmark A, Grigelioniene G, Zachariadis V, Dahllöf G, Åström E.

Oral Dis. 2017 Jan;23(1):42-49. doi: 10.1111/odi.12568. Epub 2016 Sep 13.

PMID:
27510842
19.

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O.

J Bone Miner Res. 2016 Aug;31(8):1577-85. doi: 10.1002/jbmr.2834. Epub 2016 Apr 4.

20.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S.

PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.

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