Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (10)

1

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

2

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

3

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

enthalten in: Human mutation | 2018

von Szafranski, P. | Kośmider, E. | Liu, Q. | +27

4

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

enthalten in: The Journal of pediatrics | 2018

von Towe, C. | White, F. | Grady, R. | +9

5

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

enthalten in: Human genetics | 2016

von Szafranski, P. | Gambin, T. | Dharmadhikari, A. | +90

6

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

enthalten in: BMC medical genetics | 2014

von Dharmadhikari, A. | Gambin, T. | Szafranski, P. | +16

7

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

enthalten in: American journal of medical genetics. Part A | 2014

von Szafranski, P. | Dharmadhikari, A. | Wambach, J. | +8

8

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice

enthalten in: PloS one | 2014

von Sen, P. | Dharmadhikari, A. | Majewski, T. | +15

9

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

enthalten in: Human mutation | 2013

von Sen, P. | Yang, Y. | Navarro, C. | +79

10

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

enthalten in: Genome research | 2013

von Szafranski, P. | Dharmadhikari, A. | Brosens, E. | +26

1
[1]