Petra Zeitlhofer

Vienna, Austria

Last Updated: 09/26/2026

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Found 13 publications

Metastatic disease and major adverse cardiovascular events preceding diagnosis are the main determinants of disease-specific survival of pheochromocytoma/paraganglioma: long-term follow-up of 303 patients.

Metastatic disease and major adverse cardiovascular events preceding diagnosis are the main determinants of disease-specific survival of pheochromocytoma/paraganglioma: long-term follow-up of 303 patients.

Journal: Frontiers in endocrinology
Published: April 17, 2024

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Journal: HemaSphere
Published: August 02, 2023

Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Journal: Pediatric blood & cancer
Published: May 11, 2023

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.

Journal: Frontiers in immunology
Published: February 03, 2022

Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia.

Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia.

Journal: Cancers
Published: August 03, 2021

Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.

Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.

Journal: Frontiers in pediatrics
Published: July 31, 2020

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Journal: British journal of haematology
Published: January 06, 2018

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Journal: Pediatric blood & cancer
Published: May 18, 2016

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Journal: Pediatric blood & cancer
Published: October 30, 2015

Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.

Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.

Journal: Bone marrow transplantation
Published: May 12, 2015

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Journal: European journal of endocrinology
Published: March 28, 2012

CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.

CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.

Journal: Leukemia
Published: March 06, 2012
Showing 1-12 of 13

Last Updated: 09/26/2026