D. Zemková

发表

Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt

M. Macek, V. Moslerová, J. Dupej, 2018, American journal of medical genetics. Part A.

Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study

J. Klimeš, M. Macek, M. Turnovec, 2015, The European Journal of Health Economics.

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

E. Hovorková, J. Burkert, J. Zieg, 2021, Frontiers in Pediatrics.

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.

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

M. Macek, M. Turnovec, Miroslava Balaščáková, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Familial short stature - a novel phenotype of growth plate collagenopathies.

Z. Šumník, M. Šnajderová, S. Pruhova, 2021, The Journal of clinical endocrinology and metabolism.

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

M. Trková, Z. Šumník, J. Lebl, 2016, Hormone Research in Paediatrics.

Bone Geometry and Volumetric Bone Density at the Radius in Patients with Isolated SHOX Deficiency

M. Roček, Z. Hlávka, K. Hirschfeldova, 2013, Experimental and Clinical Endocrinology & Diabetes (Barth).

Boys with haemophilia have low trabecular bone mineral density and sarcopenia, but normal bone strength at the radius

M. Roček, Z. Hlávka, O. Cinek, 2012, Haemophilia : the official journal of the World Federation of Hemophilia.

Czech Dysplasia Metatarsal Type

I. Mařík, K. Kozłowski, D. Zemková, 2004, American journal of medical genetics. Part A.

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

I. Mařík, K. Kozłowski, D. Zemková, 2004, Skeletal Radiology.

Clinical Report Czech Dysplasia Metatarsal Type

I. Mařík, K. Kozłowski, D. Zemková, 2004 .

NPR2 variants are frequent among children with familiar short stature and respond well to growth hormone therapy.

P. Kučerová, Z. Šumník, M. Šnajderová, 2020, The Journal of clinical endocrinology and metabolism.

High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone.

Z. Šumník, M. Šnajderová, S. Pruhova, 2019, The Journal of clinical endocrinology and metabolism.

Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?

Z. Šumník, M. Šnajderová, S. Pruhova, 2023, Frontiers in Endocrinology.

Genetic modifiers of liver disease in cystic fibrosis.

M. Corey, J. Zieleński, M. Drumm, 2009, JAMA.

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.

PCR detection of Burkholderia cepacia complex as one of key factors to handle a long-term outbreak.

P. Dřevínek, O. Cinek, O. Melter, 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? 

V. Kanderova, E. Froňková, A. Šedivá, 2017, Hormone Research in Paediatrics.

Large diaphragmatic defect: are skeletal deformities preventable?

J. Melichar, M. Kyncl, J. Šnajdauf, 2011, Pediatric Surgery International.

Reference data for jumping mechanography in healthy children and adolescents aged 6-18 years.

Z. Hlávka, Z. Šumník, O. Souček, 2013, Journal of musculoskeletal & neuronal interactions.

3‐M syndrome in two sisters

K. Kozłowski, D. Zemková, M. Kuklik, 2002, Journal of paediatrics and child health.

Defect-diaphragmatic ratio: a new parameter for assessment of defect size in neonates with congenital diaphragmatic hernia

J. Melichar, J. Šnajdauf, M. Rygl, 2012, Pediatric Surgery International.

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

M. Corey, L. Tsui, T. Dörk, 1992, American journal of human genetics.

Familial Short Stature—A Novel Phenotype of Growth Plate Collagenopathies

Z. Šumník, M. Šnajderová, S. Pruhova, 2021, The Journal of Clinical Endocrinology & Metabolism.

Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

Z. Šumník, M. Šnajderová, S. Pruhova, 2021, Journal of the Endocrine Society.

Pulmonary Infection and its Management in Cystic Fibrosis Patients in the Czech Republic

M. Macek, H. Krásnicanová, A. Kolek, 1996 .

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? 

V. Kanderova, E. Froňková, Z. Šumník, 2017, Hormone Research in Paediatrics.