Lista de obras - Sheila Unger - Dominio Público Uruguay

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

artículo científico publicado en 2009

A family with a newelastingene mutation: broad clinical spectrum, including sudden cardiac death ⬇️

artículo científico publicado el 16 de noviembre de 2010

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

artículo científico publicado en 2008

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases

artículo científico publicado en 2010

Acampomelic form of campomelic dysplasia with SOX9 missense mutation

artículo científico publicado en 2013

Axial spondylometaphyseal dysplasia: additional reports

artículo científico publicado en 2011

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

artículo científico publicado en 2016

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

artículo científico publicado en 2010

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

scientific journal article

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome ⬇️

artículo científico publicado en 2017

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Campomelic Dysplasia

artículo científico publicado en 2013

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

artículo científico publicado en 2011

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

artículo científico publicado en 2021

Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

artículo científico publicado en 2008

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

artículo científico publicado en 2016

Clinical and radiographic delineation of odontochondrodysplasia

artículo científico publicado en 2008

Clinical and radiological findings in Pallister–Killian syndrome ⬇️

artículo científico publicado el 10 de febrero de 2012

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

artículo científico publicado en 2018

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

artículo científico publicado en 2008

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

artículo científico publicado en 2008

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder

artículo científico publicado en 2014

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

artículo científico publicado en 2006

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

artículo científico publicado en 2008

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2017

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

Current Care and Investigational Therapies in Achondroplasia

artículo científico publicado en 2017

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

artículo científico publicado en 2008

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

artículo científico publicado en 2019

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita ⬇️

artículo científico publicado el 22 de noviembre de 2001

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

article by Sheela Nampoothiri et al published September 2014 in American Journal of Medical Genetics

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12

artículo científico publicado en 2002

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

artículo científico publicado en 2005

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

article

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

artículo científico publicado en 2013

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity

artículo científico publicado en 2006

Filamin A mutation is one cause of FG syndrome.

artículo científico publicado en 2007

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly

artículo científico publicado en 2013

Further delineation of the KAT6B molecular and phenotypic spectrum

artículo científico publicado en 2014

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

artículo científico publicado en 2011

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

artículo científico publicado en 2013

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

scientific article published on 07 February 2019

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

artículo científico publicado en 2009

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

artículo científico publicado en 2011

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

scientific article published on 15 November 2018

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

artículo científico publicado en 2014

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis

scientific article published on 01 May 2020

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

artículo científico publicado en 2016

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

artículo científico publicado en 2003

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

artículo científico publicado en 2011

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

artículo científico publicado en 2004

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

artículo científico publicado en 2008

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

artículo científico publicado en 2013

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

artículo científico publicado en 2009

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

artículo científico publicado en 2008

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

artículo científico publicado en 2015

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

artículo científico publicado en 2009

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

artículo científico publicado en 2015

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2016

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

artículo científico publicado en 2015

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias ⬇️

artículo científico publicado el 1 de diciembre de 2001

New topics in the skeletal dysplasias

artículo científico publicado en 2012

Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy

scientific article published on 18 June 2020

Nosology and classification of genetic skeletal disorders: 2006 revision

artículo científico publicado en 2007

Nosology and classification of genetic skeletal disorders: 2010 revision

artículo científico publicado en 2011

Nosology and classification of genetic skeletal disorders: 2015 revision

artículo científico publicado en 2015

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

artículo científico publicado en 2016

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

artículo científico publicado en 2004

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

artículo científico publicado en 2020

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

artículo científico publicado en 2010

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

artículo científico publicado en 2010

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation

artículo científico publicado en 2014

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

artículo científico publicado en 2006

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

artículo científico publicado en 2001

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

artículo científico publicado en 2012

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

artículo científico publicado en 2007

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

artículo científico publicado en 2011

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

artículo científico publicado en 2011

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

artículo científico publicado en 2019

Severe cleidocranial dysplasia can mimic hypophosphatasia

artículo científico publicado en 2002

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

artículo científico publicado en 2010

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder

artículo científico publicado en 2006

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

artículo científico publicado en 2010

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome

artículo científico publicado en 2008

TRPV4-associated skeletal dysplasias

artículo científico publicado en 2012

TRPV4-pathy, a novel channelopathy affecting diverse systems

artículo científico publicado en 2010

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

artículo científico publicado en 2020

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

artículo científico publicado en 2007

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

artículo científico

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

artículo científico publicado en 2008

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

artículo científico publicado en 2011

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

artículo científico publicado en 2012

[New therapies for children affected by bone diseases]

artículo científico publicado en 2012

Lista de obras de Sheila Unger

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

A family with a newelastingene mutation: broad clinical spectrum, including sudden cardiac death ⬇️

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases

Acampomelic form of campomelic dysplasia with SOX9 missense mutation

Axial spondylometaphyseal dysplasia: additional reports

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome ⬇️

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Campomelic Dysplasia

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Clinical and radiographic delineation of odontochondrodysplasia

Clinical and radiological findings in Pallister–Killian syndrome ⬇️

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

Current Care and Investigational Therapies in Achondroplasia

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita ⬇️

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity

Filamin A mutation is one cause of FG syndrome.

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly

Further delineation of the KAT6B molecular and phenotypic spectrum

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias ⬇️

New topics in the skeletal dysplasias

Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy

Nosology and classification of genetic skeletal disorders: 2006 revision

Nosology and classification of genetic skeletal disorders: 2010 revision

Nosology and classification of genetic skeletal disorders: 2015 revision

Nosology and classification of genetic skeletal disorders: 2019 revision

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features