Lista de obras -

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

artículo científico publicado en 2017

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

artículo científico publicado en 2024

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

artículo científico publicado en 2019

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

artículo científico publicado en 2019

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

Diagnosis and management of primary ciliary dyskinesia

artículo científico publicado en 2014

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

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

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

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 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 radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

artículo científico publicado en 2009

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD).

artículo científico publicado en 2015

Primary ciliary dyskinesia: current state of the art.

artículo científico publicado en 2007

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

scientific article published on 30 August 2018

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

artículo científico publicado en 2013

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 more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

artículo científico publicado en 2015

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

artículo científico publicado en 2017

Lista de obras de

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

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

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

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

Diagnosis and management of primary ciliary dyskinesia

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

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

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

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

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 radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD).

Primary ciliary dyskinesia: current state of the art.

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

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

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 more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.