Lista de obras - Giedre Grigelioniene - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

article

A case with bladder exstrophy and unbalanced X chromosome rearrangement

artículo científico publicado en 2013

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

artículo científico publicado en 2012

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online

artículo científico publicado en 1998

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

artículo científico publicado en 2015

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

scientific article published on 01 March 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

artículo científico publicado en 2001

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

artículo científico publicado en 2000

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

artículo científico publicado en 2014

Autosomal recessive brachyolmia: early radiological findings.

artículo científico publicado en 2016

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

artículo científico publicado en 2014

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

artículo científico publicado en 2016

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

artículo científico publicado en 2017

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

artículo científico publicado en 2016

Defining the clinical phenotype of Saul-Wilson syndrome

artículo científico publicado en 2020

Demonstration of Estrogen Receptor-β Immunoreactivity in Human Growth Plate Cartilage

scientific article published on 01 January 1999

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

scientific article published on 27 August 2018

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

artículo científico publicado en 2016

Extending the phenotype of lethal skeletal dysplasia type al Gazali

scientific article published on 12 May 2011

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

artículo científico publicado en 2013

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

artículo científico publicado en 2016

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

scientific article published on 07 November 2019

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

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

scientific article published on 25 February 2019

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

artículo científico publicado en 2015

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

artículo científico publicado en 2015

Genetics of Achondroplasia and Hypochondroplasia

artículo científico publicado en 2004

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

artículo científico publicado en 2018

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

article

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

artículo científico publicado en 2014

Intermediate Filament Nestin is Present in the Cerebrospinal Fluid of Children. 97

artículo científico publicado en 1996

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

artículo científico publicado en 2003

Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis.

artículo científico publicado en 2005

Molecular and clinical delineation of the 17q22 microdeletion phenotype

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

artículo científico publicado en 2009

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

artículo científico publicado en 2000

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

artículo científico publicado en 2017

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

artículo científico publicado en 2015

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

artículo científico publicado en 2017

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

artículo científico publicado en 2015

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

artículo científico publicado en 2014

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

artículo científico publicado en 2015

Skeletal ciliopathies: a pattern recognition approach

artículo científico publicado en 2020

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

artículo científico publicado en 2016

THE EMBRYONIC INTERMEDIATE FILAMENT PROTEIN NESTIN IS PRESENT IN THE CEREBROSPINAL FLUID OF NICU INFANTS. † 2223

artículo científico publicado en 1996

The phenotype range of achondrogenesis 1A

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Lista de obras de Giedre Grigelioniene

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

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

A case with bladder exstrophy and unbalanced X chromosome rearrangement

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

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

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

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

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

Autosomal recessive brachyolmia: early radiological findings.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

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

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

Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

Defining the clinical phenotype of Saul-Wilson syndrome

Demonstration of Estrogen Receptor-β Immunoreactivity in Human Growth Plate Cartilage

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

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

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

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Extending the phenotype of lethal skeletal dysplasia type al Gazali

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

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

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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

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

Genetics of Achondroplasia and Hypochondroplasia

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

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

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

Intermediate Filament Nestin is Present in the Cerebrospinal Fluid of Children. 97

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis.

Molecular and clinical delineation of the 17q22 microdeletion phenotype

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

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

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

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Skeletal ciliopathies: a pattern recognition approach

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

THE EMBRYONIC INTERMEDIATE FILAMENT PROTEIN NESTIN IS PRESENT IN THE CEREBROSPINAL FLUID OF NICU INFANTS. † 2223

The phenotype range of achondrogenesis 1A

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