Lista de obras - Fransiska Malfait - Dominio Público Uruguay

A framework for the classification of joint hypermobility and related conditions

artículo científico publicado en 2017

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

artículo científico publicado en 2005

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

artículo científico publicado en 2011

A review of the ADAMTS family, pharmaceutical targets of the future

artículo científico publicado en 2009

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

artículo científico publicado en 2017

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

artículo científico publicado en 2016

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls

artículo científico publicado en 2014

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome

artículo científico publicado en 2011

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

artículo científico publicado en 2004

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

artículo científico publicado en 2009

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

artículo científico publicado en 2009

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance

artículo científico publicado en 2016

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

artículo científico publicado en 2012

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia

artículo científico publicado en 2014

Classic Ehlers-Danlos Syndrome

artículo científico publicado en 2018

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

artículo científico publicado en 2010

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome.

artículo científico publicado en 2013

Clinical utility gene card for: osteogenesis imperfecta.

artículo científico publicado en 2012

Compound heterozygous mutations of the TNXB gene cause primary myopathy

artículo científico publicado en 2013

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response.

artículo científico publicado en 2013

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

artículo científico publicado en 2012

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

artículo científico publicado en 2012

Copper deficiency in patients with cystinosis with cysteamine toxicity

artículo científico publicado en 2013

DUP25 remains unconfirmed

scientific article published on 01 December 2004

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

artículo científico publicado en 2004

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

artículo científico publicado en 2015

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

artículo científico publicado en 2013

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

artículo científico publicado en 2013

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

artículo científico publicado en 2017

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

artículo científico publicado en 2013

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

artículo científico publicado en 2011

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

artículo científico publicado en 2015

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

artículo científico publicado en 2011

Ehlers-Danlos syndrome, classical type

artículo científico publicado en 2017

Ehlers-Danlos syndromes and Marfan syndrome

artículo científico publicado en 2008

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

artículo científico publicado en 2016

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

scientific journal article

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

artículo científico publicado en 2017

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis

artículo científico publicado en 2015

Hearing impairment in Stickler syndrome: a systematic review

artículo científico publicado en 2012

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

artículo científico publicado en 2013

Hypermobility, the Ehlers-Danlos syndromes and chronic pain

artículo científico publicado en 2017

Identification of binding partners interacting with the α1-N-propeptide of type V collagen ⬇️

artículo científico publicado el 15 de enero de 2011

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

artículo científico publicado en 2014

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis

artículo científico publicado en 2011

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

artículo científico publicado en 2016

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

artículo científico publicado en 2009

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists

artículo científico publicado en 2015

Lisinopril in paediatric medicine: a retrospective chart review of long-term treatment in children.

artículo científico publicado en 2007

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

artículo científico publicado en 2016

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

artículo científico publicado en 2014

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

artículo científico publicado en 2011

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

artículo científico publicado en 2004

Molecular genetics in classic Ehlers-Danlos syndrome

artículo científico publicado en 2005

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome

artículo científico publicado el 1 de octubre de 2012

Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome.

artículo científico publicado en 2012

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

artículo científico publicado en 2010

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type

artículo científico publicado en 2010

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

artículo científico publicado en 2011

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

artículo científico publicado en 2014

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

artículo científico publicado en 2004

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome

artículo científico publicado en 2016

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype

artículo científico publicado en 2011

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

artículo científico publicado en 2017

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review

artículo científico publicado en 2017

RIN2 syndrome: Expanding the clinical phenotype

artículo científico publicado en 2016

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

artículo científico publicado en 2008

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

artículo científico publicado en 2014

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

artículo científico publicado en 2014

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

artículo científico publicado en 2010

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

artículo científico publicado en 2012

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The Ehlers-Danlos syndrome

artículo científico

The Ehlers-Danlos syndromes, rare types

artículo científico publicado en 2017

The Ehlers–Danlos syndrome, a disorder with many faces ⬇️

artículo científico publicado el 15 de marzo de 2012

The Genetics of Soft Connective Tissue Disorders.

artículo científico

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

artículo científico publicado en 2010

The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells

artículo científico publicado en 1999

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception.

artículo científico publicado en 2016

The genetic basis of the joint hypermobility syndromes.

artículo científico publicado en 2006

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study

artículo científico publicado en 2016

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients

artículo científico publicado en 2005

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)

scientific article published on 01 November 2004

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

artículo científico publicado en 2012

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

artículo científico publicado en 2007

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

artículo científico publicado en 2017

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

artículo científico publicado en 2006

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

artículo científico publicado en 2013

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure

artículo científico publicado en 2014

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

artículo científico publicado en 2003

Updating the Evidence on Functional Capacity Evaluation Methods: A Systematic Review.

artículo científico publicado en 2017

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

artículo científico publicado en 2017

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

artículo científico publicado en 2016

Lista de obras de Fransiska Malfait

A framework for the classification of joint hypermobility and related conditions

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

A review of the ADAMTS family, pharmaceutical targets of the future

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia

Classic Ehlers-Danlos Syndrome

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome.

Clinical utility gene card for: osteogenesis imperfecta.

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Copper deficiency in patients with cystinosis with cysteamine toxicity

DUP25 remains unconfirmed

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Ehlers-Danlos syndrome, classical type

Ehlers-Danlos syndromes and Marfan syndrome

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Hearing impairment in Stickler syndrome: a systematic review

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Hypermobility, the Ehlers-Danlos syndromes and chronic pain

Identification of binding partners interacting with the α1-N-propeptide of type V collagen ⬇️

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists

Lisinopril in paediatric medicine: a retrospective chart review of long-term treatment in children.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Molecular genetics in classic Ehlers-Danlos syndrome

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome

Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review

RIN2 syndrome: Expanding the clinical phenotype

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

The 2017 international classification of the Ehlers-Danlos syndromes

The Ehlers-Danlos syndrome

The Ehlers-Danlos syndromes, rare types

The Ehlers–Danlos syndrome, a disorder with many faces ⬇️

The Genetics of Soft Connective Tissue Disorders.

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).