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Giedre Grigelioniene

Forskare

Besöksadress : Karolinska Universitetssjukhuset, Solna, Cmm (L8:02) 171 76 Stockholm
Leveransadress : Karolinska Universitetssjukhuset, Solna, Cmm (L8:02) 171 76 Stockholm

Publikationer

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund Ea, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-robinson K, et al
European journal of human genetics : EJHG 2016;24(2):198-207

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
Wang Z, Iida A, Miyake N, Nishiguchi Km, Fujita K, Nakazawa T, et al
PloS one 2016;11(3):e0150555-

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Kuchinskaya E, Grigelioniene G, Hammarsjö A, Lee Hr, Högberg L, Grigelionis G, et al
Orphanet journal of rare diseases 2016;11():1-

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
Hammarsjö A, Nordgren A, Lagerstedt-robinson K, Malmgren H, Nilsson D, Wedrén S, et al
American journal of medical genetics. Part A 2016;170A(1):266-9

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen Cw, Willemsen Mh, De Munnik S, Van Bon Bw, De Leeuw N, Verrips A, et al
European journal of human genetics : EJHG 2015;23(9):1176-85

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta
Lindahl K, Åström E, Rubin Cj, Grigelioniene G, Malmgren B, Ljunggren Ö, et al
European journal of human genetics : EJHG 2015;23(8):1042-50

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Reynaert N, Ockeloen Cw, Savendahl L, Beckers D, Devriendt K, Kleefstra T, et al
HORMONE RESEARCH IN PAEDIATRICS 2015;83(5):361-4

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, et al
Clinical genetics 2015;87(3):273-8

A case with bladder exstrophy and unbalanced X chromosome rearrangement
Soderhall C, Lundin J, Lagerstedt-robinson K, Grigelioniene G, Lackgren G, Kockum Cc, et al
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2014;24(4):353-9

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course
Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al
American journal of medical genetics. Part A 2014;164A(7):1635-41

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
Acuna-hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad Mh, Conner P, et al
American journal of human genetics 2014;95(3):285-93

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger S, Gorna Mw, Le Bechec A, Do Vale-pereira S, Bedeschi Mf, Geiberger S, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2013;92(6):990-5

Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T, Lundin J, Anderlid Bm, Gorski Jl, Grigelioniene G, Knight Sj, et al
European journal of human genetics : EJHG 2013;21(10):1085-92

The phenotype range of achondrogenesis 1A
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, et al
American journal of medical genetics. Part A 2013;161A(10):2554-8

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Laurell T, Vandermeer Je, Wenger Am, Grigelioniene G, Nordenskjöld A, Arner M, et al
Human mutation 2012;33(7):1063-6

Extending the Phenotype of Lethal Skeletal Dysplasia Type al Gazali
Grigelioniene G, Papadogiannakis N, Conner P, Geiberger S, Nishikawa M, Nakayama M
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2011;155A(6):1404-8

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
Dai J, Kim Oh, Cho Tj, Schmidt-rimpler M, Tonoki H, Takikawa K, et al
JOURNAL OF MEDICAL GENETICS 2010;47(10):704-9

Array-CGH as a method for detection of monogenic disorders
Anderlid B, Grigelioniene G, Schoumans J, Kvarnung M, Ann N
CHROMOSOME RESEARCH 2009;:187-187

Clinical and Molecular Characterization of Duplications Encompassing the Human SHOX Gene Reveal a Variable Effect on Stature
Thomas Ns, Harvey Jf, Bunyan Dj, Rankin J, Grigelioniene G, Bruno Dl, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2009;149A(7):1407-14

Genotype-phenotype variations in a family with an unique X to 15 rearrangement
Lindgren Ac, Lindstrand A, Hagenas L, Malmgren H, Blennow E, Grigelioniene G
HORMONE RESEARCH 2009;:241-241

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Heinz-erian P, Muller T, Krabichler B, Schranz M, Becker C, Ruschendorf F, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2009;84(2):188-96

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
Hansson Cm, Buckley Pg, Grigelioniene G, Piotrowski A, Hellström Ar, Mantripragada K, et al
BMC genomics 2007;8():16-

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
Hansson Cm, Buckley Pg, Grigelioniene G, Piotrowski A, Hellstrom Ar, Mantripragada K, et al
BMC GENOMICS 2007;:1-16

Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis
Laurencikas E, Soderman E, Grigelioniene G, Hagenas L, Jorulf H
ACTA RADIOLOGICA 2005;46(2):200-7

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
Ross Jl, Bellus G, Scott Ci, Abboudi J, Grigelioniene G, Zinn Ar
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2003;116A(1):61-5

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson Sa, Eklof O, Enkvist O, et al
HUMAN GENETICS 2001;109(5):551-8

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia
Grigelioniene G, Eklof O, Laurencikas E, Ollars B, Hertel Nt, Dumanski Jp, et al
ACTA PAEDIATRICA 2000;89(9):1072-6

Estrogens and human growth
Ritzen Em, Nilsson O, Grigelioniene G, Holst M, Savendahl L, Wroblewski J
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY 2000;74(5):383-6

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
Grigelioniene G, Eklof O, Ivarsson Sa, Westphal O, Neumeyer L, Kedra D, et al
HUMAN GENETICS 2000;107(2):145-9

Demonstration of estrogen receptor-beta immunoreactivity in human growth plate cartilage
Nilsson Lo, Boman A, Savendahl L, Grigelioniene G, Ohlsson C, Ritzen Em, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 1999;84(1):370-3

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
Grigelioniene G, Hagenas L, Eklof O, Neumeyer L, Haereid Pe, Anvret M
HUMAN MUTATION 1998;11(4):333-

Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin
Grigelioniene G, Blennow M, Torok C, Fried G, Dahlin I, Lendahl U, et al
PEDIATRIC RESEARCH 1996;40(6):809-14

The embryonic intermediate filament protein nestin is present in the cerebrospinal fluid of NICU infants.
Blennow M, Grigelioniene G, Torok C, Lendahl U, Lagercrantz F
PEDIATRIC RESEARCH 1996;39(4):2223-2223

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