4.6 Article

Clinical and Genetic Analysis of Children with Kartagener Syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Stephane E. Castel et al.

NATURE GENETICS (2018)

Proceedings Paper Engineering, Biomedical

Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering

Jorge Oliveira et al.

BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES (BIOSTEC 2017) (2018)

Review Andrology

Major regulatory mechanisms involved in sperm motility

Rute Pereira et al.

ASIAN JOURNAL OF ANDROLOGY (2017)

Article Genetics & Heredity

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Xuan Xu et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2017)

Article Cell Biology

Cilia and Mucociliary Clearance

Ximena M. Bustamante-Marin et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)

Review Respiratory System

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Bruna Rubbo et al.

EUROPEAN RESPIRATORY REVIEW (2017)

Article Biochemistry & Molecular Biology

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

Kai Zhang et al.

Review Respiratory System

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature

Weiguo Sui et al.

CLINICAL RESPIRATORY JOURNAL (2016)

Article Multidisciplinary Sciences

Cilia-based flow network in the brain ventricles

Regina Faubel et al.

SCIENCE (2016)

Article Respiratory System

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

Margaret W. Leigh et al.

ANNALS OF THE AMERICAN THORACIC SOCIETY (2016)

Article Critical Care Medicine

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Stephanie D. Davis et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2015)

Article Genetics & Heredity

Mutation analysis in patients with total sperm immotility

Rute Pereira et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2015)

Article Multidisciplinary Sciences

Structure of human cytoplasmic dynein-2 primed for its power stroke

Helgo Schmidt et al.

NATURE (2015)

Article Biotechnology & Applied Microbiology

Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies

Philip A. Ruzycki et al.

GENOME BIOLOGY (2015)

Review Pediatrics

Diagnosis and management of primary ciliary dyskinesia

Jane S. Lucas et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2014)

Article Multidisciplinary Sciences

A molecular ruler determines the repeat length in eukaryotic cilia and flagella

Toshiyuki Oda et al.

SCIENCE (2014)

Article Genetics & Heredity

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Michael R. Knowles et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Pediatrics

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

Thomas W. Ferkol et al.

JOURNAL OF PEDIATRICS (2013)

Article Multidisciplinary Sciences

RNA-Guided Human Genome Engineering via Cas9

Prashant Mali et al.

SCIENCE (2013)

Article Multidisciplinary Sciences

Multiplex Genome Engineering Using CRISPR/Cas Systems

Le Cong et al.

SCIENCE (2013)

Review Genetics & Heredity

Human housekeeping genes, revisited

Eli Eisenberg et al.

TRENDS IN GENETICS (2013)

Article Cardiac & Cardiovascular Systems

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

Nader Nakhleh et al.

CIRCULATION (2012)

Article Genetics & Heredity

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Multidisciplinary Sciences

The 2.8 Å crystal structure of the dynein motor domain

Takahide Kon et al.

NATURE (2012)

Article Biochemistry & Molecular Biology

Insights into dynein motor domain function from a 3.3-Å crystal structure

Helgo Schmidt et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)

Article Multidisciplinary Sciences

Structural Basis for Microtubule Binding and Release by Dynein

William B. Redwine et al.

SCIENCE (2012)

Article Cell Biology

Protein localization in disease and therapy

Mien-Chie Hung et al.

JOURNAL OF CELL SCIENCE (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Article Biochemistry & Molecular Biology

HomozygosityMapper-an interactive approach to homozygosity mapping

Dominik Seelow et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Genetics & Heredity

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Niki Tomas Loges et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Review Biochemistry & Molecular Biology

Cystic fibrosis mouse models

Claudine Guilbault et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2007)

Article Critical Care Medicine

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

Nada Hornef et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)

Review Obstetrics & Gynecology

The reproductive significance of human Fallopian tube cilia

R. A. Lyons et al.

HUMAN REPRODUCTION UPDATE (2006)

Article Biochemistry & Molecular Biology

Prediction of protein stability changes for single-site mutations using support vector machines

JL Cheng et al.

PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2006)

Article Biochemistry & Molecular Biology

The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk

IR Gibbons et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Critical Care Medicine

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

M Fliegauf et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2005)

Review Genetics & Heredity

Genomic variants in exons and introns: identifying the splicing spoilers

F Pagani et al.

NATURE REVIEWS GENETICS (2004)

Article Multidisciplinary Sciences

Dynein structure and power stroke

SA Burgess et al.

NATURE (2003)

Article Biochemistry & Molecular Biology

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

I Ibañez-Tallon et al.

HUMAN MOLECULAR GENETICS (2002)

Article Biochemistry & Molecular Biology

A new mathematical model for relative quantification in real-time RT-PCR

MW Pfaffl

NUCLEIC ACIDS RESEARCH (2001)

Article Cell Biology

Functional elements within the dynein microtubule-binding domain

MP Koonce et al.

MOLECULAR BIOLOGY OF THE CELL (2000)