Bernd Dworniczak

Muenster, NW, Germany

Last Updated: 09/26/2026

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Found 27 publications

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

Journal: Frontiers in molecular biosciences

Published: June 05, 2025

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Journal: Cells

Published: April 30, 2024

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Journal: Cells

Published: April 30, 2024

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Journal: The European respiratory journal

Published: April 25, 2024

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Journal: The European respiratory journal

Published: October 17, 2023

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

Journal: The European respiratory journal

Published: August 25, 2023

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Journal: Annals of the American Thoracic Society

Published: February 24, 2022

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Journal: Nature communications

Published: November 03, 2019

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

Journal: Circulation. Genomic and precision medicine

Published: October 23, 2019

SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.

SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.

Journal: American journal of respiratory cell and molecular biology

Published: September 24, 2019

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Journal: Cancer research

Published: July 01, 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Journal: American journal of human genetics

Published: May 29, 2018

Showing 1-12 of 27

Last Updated: 09/26/2026