The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

(2022) William B Hannah et al.   Lancet Respiratory Medicine

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

(2021) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient

(2021) Yaqian Li et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

(2021) Isabella Aprea et al.   MOLECULAR HUMAN REPRODUCTION

Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia

(2021) Rongchun Wang et al.   Frontiers in Genetics

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation

(2021) Wilfredo De Jesús-Rojas et al.   Diagnostics

A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia

(2021) Fahimeh Akbarian et al.   ANDROLOGIA

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

(2021) Matthew J Page et al.   BMJ-British Medical Journal

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

(2021) Xinyue Zhao et al.   Orphanet Journal of Rare Diseases

A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient

(2021) Daijuan Chen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Dysplasia of the fibrous sheath with axonemal and centriolar defects combined with lack of mitochondrial activity as associated factors of ICSI failure in primary ciliary dyskinesia syndrome

(2021) Juliana R. Pariz et al.   International Braz J Urol

Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family

(2021) Yang Gao et al.   Frontiers in Genetics

Bi‐allelic mutations in MCIDA S and CCNO cause human infertility associated with abnormal gamete transport

(2021) Cong Ma et al.   CLINICAL GENETICS

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient

(2021) Cheng Lei et al.   JOURNAL OF HUMAN GENETICS

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia

(2021) Li Liu et al.   MEDICINE

Pregnancy and delivery in a patient with a Fontan circulation and primary ciliary dyskinesia: A case report

(2021) Sébastien Grandfils et al.   Journal of Gynecology Obstetrics and Human Reproduction

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

(2020) Lucie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection

(2020) Huan Wu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

(2020) Ying Wang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Exposure of human fallopian tube epithelium to elevated testosterone results in alteration of cilia gene expression and beating

(2020) Tia Jackson-Bey et al.   HUMAN REPRODUCTION

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family

(2020) Minghan Sun et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Scanning electron microscopy of the surface epithelium of the bovine endometrium

(2020) F.G. Kumro et al.   JOURNAL OF DAIRY SCIENCE

Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia

(2020) Lei Zhou et al.   Molecular Medicine Reports

Single-cell transcriptomic atlas of the human endometrium during the menstrual cycle

(2020) Wanxin Wang et al.   NATURE MEDICINE

Motile cilia of the male reproductive system require miR-34/miR-449 for development and function to generate luminal turbulence

(2019) Shuiqiao Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sperm agglutination: Prevalence and contributory factors

(2019) Garrett K. Berger et al.   ANDROLOGIA

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

(2019) R. Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus

(2019) Panayiotis K. Yiallouros et al.   Journal of Thoracic Disease

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

(2019) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

Androgens negatively affect ciliary function and alter gene expression in the human fallopian tube

(2019) Tia Jackson-Bey et al.   FERTILITY AND STERILITY

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Primary ciliary dyskinesia in the genomics age

(2019) Jane S Lucas et al.   Lancet Respiratory Medicine

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

(2018) Inga M. Höben et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener’s syndrome

(2018) Sinan Ozkavukcu et al.   Reproductive Biology and Endocrinology

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

(2018) Lin Yang et al.   Frontiers in Genetics

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Never too old for an inherited condition

(2018) Philip Robinson   INTERNAL MEDICINE JOURNAL

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

(2017) Gert Jan Vanaken et al.   EUROPEAN RESPIRATORY JOURNAL

Estrogen receptor α is required for oviductal transport of embryos

(2017) Shuai Li et al.   FASEB JOURNAL

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

(2016) Elma El Khouri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosing primary ciliary dyskinesia: an international patient perspective

(2016) Laura Behan et al.   EUROPEAN RESPIRATORY JOURNAL

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

(2016) Laura Behan et al.   EUROPEAN RESPIRATORY JOURNAL

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Cigarette smoking alters sialylation in the Fallopian tube of women, with implications for the pathogenesis of ectopic pregnancy

(2016) Junko Nio-Kobayashi et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Kartagener’s syndrome: A case report

(2016) Djordje Tausan et al.   Vojnosanitetski Pregled

Impaired immunological synapse in sperm associated antigen 6 (SPAG6) deficient mice

(2016) Lauren Folgosa Cooley et al.   Scientific Reports

Development of a critical appraisal tool to assess the quality of cross-sectional studies (AXIS)

(2016) Martin J Downes et al.   BMJ Open

Cilia Dysfunction in Lung Disease

(2015) Ann E. Tilley et al.   Annual Review of Physiology

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

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

(2015) Weiguo Sui et al.   Clinical Respiratory Journal

Clinical analysis of patients with primary ciliary dyskinesia in mainland China

(2015) Yueqin Cao et al.   Clinical Respiratory Journal

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL–PCD

(2015) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Ciliary function and motor protein composition of human fallopian tubes

(2015) Johanna Raidt et al.   HUMAN REPRODUCTION

Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome

(2015) T. Ebner et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Normal live birth after vitrified/warmed oocytes intracytoplasmic sperm injection with immotile spermatozoa in a patient with Kartagener's syndrome

(2014) D. Montjean et al.   ANDROLOGIA

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

(2014) Ping Li et al.   ASIAN JOURNAL OF ANDROLOGY

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

(2014) Alexandros Onoufriadis et al.   HUMAN MOLECULAR GENETICS

Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review

(2013) Wei Chen et al.   Clinical Respiratory Journal

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Birth of healthy twins after intracytoplasmic sperm injection using ejaculated immotile spermatozoa from a patient with Kartagener’s syndrome

(2011) S. Geber et al.   ANDROLOGIA

Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome

(2011) Kubilay Vicdan et al.   FERTILITY AND STERILITY

Birth of a healthy infant after intracytoplasmic sperm injection using pentoxifylline-activated sperm from a patient with Kartagener’s syndrome

(2011) Hiromitsu Hattori et al.   FERTILITY AND STERILITY

Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails

(2011) Robert I. McLachlan et al.   FERTILITY AND STERILITY

Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways

(2011) Yehoshua Enuka et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

Pentoxifylline activates sperm motility in testicular sperm from patient with primary ciliary dyskinesia resulting in twin live birth through IVF-ICSI

(2010) J.L. Phy et al.   FERTILITY AND STERILITY

A healthy birth after intracytoplasmic sperm injection using ejaculated spermatozoa from a patient with Kartagener's syndrome

(2010) Yukiko Matsumoto et al.   FERTILITY AND STERILITY

A sperm viability test using SYBR-14/propidium iodide flow cytometry as a tool for rapid screening of primary ciliary dyskinesia patients and for choosing sperm sources for intracytoplasmic sperm injection

(2010) Zhi-hong Niu et al.   FERTILITY AND STERILITY

High prevalence of primary ciliary dyskinesia in a British Asian population

(2009) C O'Callaghan et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Can pentoxifylline improve the sperm motion and ICSI success in the primary ciliary dyskinesia?

(2008) Gazi Yildirim et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: A case report

(2008) Richard J. Kordus et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Ectopic pregnancy in primary ciliary dyskinesia

(2008) M. Blyth et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Pregnancy after laser-assisted selection of viable spermatozoa before intracytoplasmatic sperm injection in a couple with male primary cilia dyskinesia

(2007) Peter Arne Gerber et al.   FERTILITY AND STERILITY

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION