User profiles for P. Freisinger
Peter FreisingerProfessor Kinderheilkunde TU München; Klinikum Reutlingen Verified email at klin-rt.de Cited by 8622 |
Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads
…, KH Ng, J Bourguignon, C Lasselin, P Freisinger - Experimental cell …, 1994 - Elsevier
We have used the three-dimensional culture system in alginate beads to redifferentiate
human articular chondrocytes which were first expanded on a plastic support. After 15 days in …
human articular chondrocytes which were first expanded on a plastic support. After 15 days in …
[HTML][HTML] Genetic diagnosis of Mendelian disorders via RNA sequencing
…, D Ghezzi, JA Mayr, A Rötig, P Freisinger… - Nature …, 2017 - nature.com
Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA)
polymerase γ (POLG1) have recently been described in patients with diverse clinical …
polymerase γ (POLG1) have recently been described in patients with diverse clinical …
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia
characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth …
characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth …
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Background Next generation sequencing has become the core technology for gene discovery
in rare inherited disorders. However, the interpretation of the numerous sequence variants …
in rare inherited disorders. However, the interpretation of the numerous sequence variants …
[HTML][HTML] Clinical implementation of RNA sequencing for Mendelian disease diagnostics
…, H Blessing, E Ciara, F Distelmaier, P Freisinger… - Genome medicine, 2022 - Springer
Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after …
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after …
[HTML][HTML] Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
…, ML Cascavilla, PC Issa, P Freisinger… - The Journal of …, 2021 - Am Soc Clin Investig
Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …
[PDF][PDF] Mitochondrial phosphate–carrier deficiency: A novel disorder of oxidative phosphorylation
… p control fibroblasts; lane 3 p fibroblasts from patient 1; lane 4 p myoblasts, undifferentiated
from patient 1; lane 5 p … 1; lane 6 p muscle from patient 1; lanes 7–10 p muscle from controls. …
from patient 1; lane 5 p … 1; lane 6 p muscle from patient 1; lanes 7–10 p muscle from controls. …
[PDF][PDF] Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
Whole-exome sequencing and autozygosity mapping studies, independently performed in
subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a …
subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a …
[HTML][HTML] Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
…, JA Sayer, B Rolinski, P Freisinger… - The Journal of …, 2010 - Am Soc Clin Investig
The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes …
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes …