Jan Lebl - Concepedia

Author

Jan Lebl

Charles University ORCID

Also Known As

Adam Klocperk, Fernando de Souza Novaes Júnior, J Lebl, J Lébl, J Lĕbl, J. LEBL, J. Lebl, J., Lebl, Jan LEBL, Jan Lebl

353

Publications

5.5K

Citations

H-Index

141

Concepts

All Affiliations

Charles University University Hospital in Motol Steno Diabetes Centers University of Copenhagen Palacký University Olomouc

About

Jan Lebl is an author at Charles University specializing in medicine, genetics, and diabetes.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	39	1.6K
2	Public Health	7	7	328
3	Health Sciences	3	3	61
4	Education	2	2	68
5	Allergy	2	2	61

Jan Lebl

110

Publications

4.6K

Citations

H-Index

Page 1

	Year	Citations
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection Ewan R. Pearson, Štěpánka Průhová, Cees J. Tack, Diabetologia Phenotypic CharacteristicsHepatologyGenetic DisorderLiver PhysiologyGenetics	2005	231
Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism Martine Cools, J. Pleskacova, Hans Stoop, The Journal of Clinical Endocrinology & Metabolism	2011	149
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, The Journal of Clinical Endocrinology & Metabolism	2016	127
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial Stefan Groeneweg, Robin P. Peeters, Carla Moran, The Lancet Diabetes & Endocrinology Iodine Deficiency DisordersPharmacologyMct8 DeficiencyTri-iodothyronine Analogue TriacThyroid Hormone	2019	122
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed Juraj Staník, Petra Dušátková, Ondřej Cinek, Diabetologia Genetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification	2013	117
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, The Lancet Diabetes & Endocrinology Disease CharacteristicsDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis	2020	107
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Eva Al Taji, Heike Biebermann, Z Límanová, European Journal of Endocrinology	2007	105
Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Journal of Clinical Investigation Hnf-1α–dependent Transcriptional ControlGeneticsHnf-1alpha Binding SiteInsulin SignalingMetabolic Syndrome	2002	105
Continued Growth Hormone (GH) Treatment after Final Height Is Necessary to Complete Somatic Development in Childhood-Onset GH-Deficient Patients Andrea Attanasio, Elena P. Shavrikova, Werner Blum, The Journal of Clinical Endocrinology & Metabolism	2004	99
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia Vita Dolžan, J. Sólyom, G. Fekete, European Journal of Endocrinology	2005	96

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