Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (25)

1

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

enthalten in: Clinical epigenetics | 2023

von Szafranski, P. | Garimella, R. | Mani, H. | +5

2

Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia

enthalten in: Pediatric pulmonology | 2023

von Galambos, C. | Logan, J. | Stankiewicz, P. | +6

3

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

enthalten in: Molecular genetics & genomic medicine | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +6

4

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant

enthalten in: European journal of human genetics : EJHG | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +9

5

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

enthalten in: European journal of medical genetics | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Gambin, T. | +3

6

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

enthalten in: Respiratory research | 2021

von Karolak, J. | Gambin, T. | Szafranski, P. | +4

7

Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

enthalten in: Human mutation | 2021

von Szafranski, P. | Gambin, T. | Karolak, J. | +2

8

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

enthalten in: Respiratory research | 2021

von Karolak, J. | Gambin, T. | Szafranski, P. | +1

9

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

enthalten in: Journal of medical genetics | 2020

von Steiner, L. | Getman, M. | Schiralli Lester, G. | +11

10

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

enthalten in: The Journal of molecular diagnostics : JMD | 2020

von Karolak, J. | Liu, Q. | Xie, N. | +16