Lista de obras - Miriam Schmidts - Dominio Público Uruguay

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East

artículo científico publicado en 2019

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

artículo científico publicado en 2014

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

artículo científico publicado en 2015

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

artículo científico publicado en 2015

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?

artículo científico publicado en 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

artículo científico publicado en 2012

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

artículo científico publicado en 2011

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

artículo científico publicado en 2018

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

CiliaCarta: An integrated and validated compendium of ciliary genes

artículo científico publicado en 2019

Clinical genetics and pathobiology of ciliary chondrodysplasias.

artículo científico publicado en 2014

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

artículo científico publicado en 2013

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

artículo científico publicado en 2013

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

artículo científico publicado en 2011

D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome

artículo científico publicado en 2010

DYX1C1 is required for axonemal dynein assembly and ciliary motility

artículo científico publicado en 2013

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

artículo científico publicado en 2009

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney

artículo científico publicado en 2013

Editorial: Genetic Kidney Diseases of Childhood

scientific article published on 19 December 2018

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

artículo científico publicado en 2017

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

artículo científico publicado en 2013

Expanding the clinical phenotype of IARS2-related mitochondrial disease

artículo científico publicado en 2018

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

scientific article published on 06 October 2016

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

artículo científico publicado en 2014

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

artículo científico publicado en 2017

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

article

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

scientific article published on 07 February 2019

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

artículo científico publicado en 2018

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

scientific article published on 13 February 2019

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

artículo científico publicado en 2003

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

artículo científico publicado en 2013

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

scientific journal article

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

artículo científico publicado en 2013

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

artículo científico publicado en 2012

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

artículo científico publicado en 2012

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

scientific journal article

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

artículo científico publicado en 2018

Primary cilia-regulated transcriptome in the renal collecting duct

artículo científico publicado en 2018

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

artículo científico publicado en 2012

Role of the polarity protein Scribble for podocyte differentiation and maintenance

artículo científico publicado en 2012

Severe skeletal abnormalities caused by defects in retrograde intraflagellar transport dyneins

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

artículo científico publicado en 2013

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

artículo científico publicado en 2015

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

artículo científico publicado en 2014

The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1

artículo científico publicado en 2003

Lista de obras de Miriam Schmidts

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

CiliaCarta: An integrated and validated compendium of ciliary genes

Clinical genetics and pathobiology of ciliary chondrodysplasias.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney

Editorial: Genetic Kidney Diseases of Childhood

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

Primary cilia-regulated transcriptome in the renal collecting duct

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

Role of the polarity protein Scribble for podocyte differentiation and maintenance

Severe skeletal abnormalities caused by defects in retrograde intraflagellar transport dyneins

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1