Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Cystic fibrosis pulmonary exacerbations

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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 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

Picking up speed: advances in the genetics of primary ciliary dyskinesia

artículo científico publicado en 2014

Prevention of cystic fibrosis: The beginning of the end?

scientific article published on 01 March 2019

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

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

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

Cystic fibrosis pulmonary exacerbations

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

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

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

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic

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

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

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

Picking up speed: advances in the genetics of primary ciliary dyskinesia

Prevention of cystic fibrosis: The beginning of the end?

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients

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

Standardizing nasal nitric oxide measurement as a test for 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