Lista de obras -

A New Tool Improves Diagnostic Test Performance for Transmission EM Evaluation of Axonemal Dynein Arms ⬇️

artículo científico publicado el 19 de agosto de 2013

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme

artículo científico publicado en 2007

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

scientific article published on 20 January 2020

A middle-aged woman with recurrent respiratory infections

artículo científico publicado en 2005

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

artículo científico publicado en 2007

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

artículo científico publicado en 2013

An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases.

artículo científico publicado en 2017

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

scientific article published on 01 February 2020

Calcium stone lithoptysis in primary ciliary dyskinesia

artículo científico publicado en 2006

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population ⬇️

artículo científico publicado en 2014

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

artículo científico publicado en 2024

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

artículo científico publicado en 2016

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

artículo científico publicado en 2009

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

artículo científico publicado en 2015

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

artículo científico publicado en 2007

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

artículo científico publicado en 2014

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

artículo científico publicado en 2014

Cutting edge genetic studies in primary ciliary dyskinesia ⬇️

artículo científico publicado el 10 de febrero de 2012

Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia

artículo científico publicado en 2019

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

artículo científico publicado en 2006

DYX1C1 is required for axonemal dynein assembly and ciliary motility

artículo científico publicado en 2013

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

artículo científico publicado en 2019

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

artículo científico publicado en 2009

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

artículo científico publicado en 2018

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

artículo científico publicado en 2016

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2013

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia

artículo científico publicado en 2013

Genetic causes of bronchiectasis: primary ciliary dyskinesia

artículo científico publicado en 2007

Genetic defects in ciliary structure and function

artículo científico publicado en 2007

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

artículo científico publicado en 2012

High-resolution CT of patients with primary ciliary dyskinesia

artículo científico publicado en 2007

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

scientific journal article

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2019

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia

artículo científico publicado en 2003

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

artículo científico publicado en 2019

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

artículo científico publicado en 2014

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

artículo científico publicado en 2005

Motile ciliopathies

scientific article published on 17 September 2020

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

artículo científico publicado en 2020

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

artículo científico publicado en 2016

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 DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

artículo científico publicado en 2002

Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia

artículo científico publicado en 2002

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

artículo científico publicado en 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

artículo científico publicado en 2006

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases

scientific article published on 01 February 2019

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

artículo científico publicado en 2011

Primary Ciliary Dyskinesia

artículo científico publicado en 2016

Primary Ciliary Dyskinesia

artículo científico publicado en 2015

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia

artículo científico publicado en 2019

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease ⬇️

artículo científico publicado el 15 de octubre de 2013

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

artículo científico publicado en 2019

Primary ciliary dyskinesia in Amish communities

artículo científico publicado en 2010

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities

artículo científico publicado en 2013

Primary ciliary dyskinesia.

artículo científico publicado en 2015

Primary ciliary dyskinesia: diagnostic and phenotypic features

artículo científico publicado en 2003

Primary ciliary dyskinesia: improving the diagnostic approach

artículo científico publicado en 2009

Primary ciliary dyskinesia: keep it on your radar

artículo científico publicado en 2017

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

scientific article published on 04 July 2019

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

artículo científico publicado en 2013

The Emerging Genetics of Primary Ciliary Dyskinesia ⬇️

artículo científico publicado el 1 de septiembre de 2011

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia

artículo científico publicado en 2019

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey

artículo científico publicado en 2014

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort

scientific article published on 20 September 2018

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia

artículo científico publicado en 2014

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

artículo científico publicado en 2015

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

artículo científico publicado en 2012

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

artículo científico publicado en 2013

Lista de obras de

A New Tool Improves Diagnostic Test Performance for Transmission EM Evaluation of Axonemal Dynein Arms ⬇️

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

A middle-aged woman with recurrent respiratory infections

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases.

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Calcium stone lithoptysis in primary ciliary dyskinesia

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population ⬇️

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

Cutting edge genetic studies in primary ciliary dyskinesia ⬇️

Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

DYX1C1 is required for axonemal dynein assembly and ciliary motility

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

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

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia

Genetic causes of bronchiectasis: primary ciliary dyskinesia

Genetic defects in ciliary structure and function

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

High-resolution CT of patients with primary ciliary dyskinesia

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

Motile ciliopathies

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

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

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

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

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease ⬇️

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

Primary ciliary dyskinesia in Amish communities

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities

Primary ciliary dyskinesia.

Primary ciliary dyskinesia: diagnostic and phenotypic features

Primary ciliary dyskinesia: improving the diagnostic approach

Primary ciliary dyskinesia: keep it on your radar

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

The Emerging Genetics of Primary Ciliary Dyskinesia ⬇️

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia