Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (6)

1

Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

enthalten in: American journal of respiratory cell and molecular biology | 2022

von Karolak, J. | Deutsch, G. | Gambin, T. | +3

2

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant

enthalten in: American journal of medical genetics. Part A | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +5

3

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

4

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

enthalten in: Clinical genetics | 2019

von Karolak, J. | Szafranski, P. | Kilner, D. | +9

5

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

enthalten in: American journal of human genetics | 2019

von Karolak, J. | Vincent, M. | Deutsch, G. | +69

6

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

enthalten in: American journal of medical genetics. Part A | 2016

von Szafranski, P. | Coban-Akdemir, Z. | Rupps, R. | +8

1
[1]