F. Votava

发表

Two novel fusion genes, AIF1L‐ETV6 and ABL1‐AIF1L, result together with ETV6‐ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin

J. Lukeš, J. Zuna, J. Starý, 2018, Genes, chromosomes & cancer.

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

T. Battelino, F. Waldhauser, S. Baumgartner-Parzer, 2005, European journal of endocrinology.

Prenatal origin of childhood AML occurs less frequently than in childhood ALL

R. Marschalek, J. Zuna, T. Burjanivová, 2006, BMC Cancer.

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

T. Battelino, F. Waldhauser, S. Baumgartner-Parzer, 2005, European journal of endocrinology.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

M. Macek, Miroslava Balaščáková, T. Piskáčková, 2012, European Journal of Pediatrics.

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.

L. Fajkusová, E. Hrabincová, S. Koloušková, 2011, European journal of medical genetics.

Identification of CYP 21 A 2 mutant alleles in Czech patients with 21-hydroxylase deficiency

L. Fajkusová, E. Hrabincová, S. Koloušková, 2022 .

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

O. Sommerburg, M. Macek, J. Hammermann, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Long-term stability of amino acids and acylcarnitines in dried blood spots.

Georg Heinze, Sylvia Stöckler-Ipsiroglu, G. Heinze, 2007, Clinical chemistry.

Endocrinology and Metabolism: Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

F. Waldhauser, O. Bodamer, S. Stöckler‐Ipsiroglu, 2007 .

Stability of 17alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage.

G. Heinze, F. Waldhauser, S. Stöckler‐Ipsiroglu, 2002, Clinical chemistry.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

M. Macek, R. Gaillyová, T. Adam, 2019, Central European journal of public health.

Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries.

G. Heinze, T. Battelino, F. Waldhauser, 2001, The Journal of clinical endocrinology and metabolism.

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

M. Muckenthaler, M. Gahr, O. Sommerburg, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: Poor prognosis and prenatal origin

R. Marschalek, J. Zuna, Z. Zemanová, 2010, Genes, chromosomes & cancer.

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

V. Kožich, Eva Al Taji, F. Votava, 2018, European Journal of Pediatrics.

Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.

L. Fajkusová, S. Koloušková, F. Votava, 2010, International journal of molecular medicine.

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17‐hydroxyprogesterone

O. Cinek, J. Lebl, F. Votava, 2012, Clinical endocrinology.

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

T. Kalina, E. Mejstrikova, E. Froňková, 2014, PloS one.

The Immunological Epigenetic Landscape of the Human Life Trajectory

S. Ovsepian, M. Černá, V. O'Leary, 2022, Biomedicines.

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

D. Matern, J. Lebl, F. Votava, 2012, European Journal of Pediatrics.

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

F. Waldhauser, O. Bodamer, W. Sperl, 2006, European Journal of Pediatrics.

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood

E. Mejstrikova, E. Froňková, P. Hubáček, 2015, BMC Pulmonary Medicine.

Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.

M. Macek, P. Dřevínek, Miroslava Balaščáková, 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.

S. Koloušková, F. Votava, Z. Hrubá, 2020, Minerva Pediatrica.

Quasistatic Volume-Pressure Curve to Predict the Effects of Positive End-Expiratory Pressure on Lung Mechanics and Gas Exchange in Neonates Ventilated for Respiratory Distress Syndrome

G. Simbruner, C. Aufricht, F. Votava, 1995, American journal of perinatology.