Lebl J - Search Results

1

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.

Brisset S, Slamova Z, Dusatkova P, Briand-Suleau A, Milcent K, Metay C, Simandlova M, Sumnik Z, Tosca L, Goossens M, Labrune P, Zemankova E, Lebl J, Tachdjian G, Sedlacek Z. Brisset S, et al. Among authors: lebl j. Mol Cytogenet. 2014 Feb 28;7(1):17. doi: 10.1186/1755-8166-7-17. Mol Cytogenet. 2014. PMID: 24581273 Free PMC article.

2

High prevalence of coeliac disease in siblings of children with type 1 diabetes.

Sumnik Z, Kolouskova S, Malcova H, Vavrinec J, Venhacova J, Lebl J, Cinek O. Sumnik Z, et al. Among authors: lebl j. Eur J Pediatr. 2005 Jan;164(1):9-12. doi: 10.1007/s00431-004-1547-1. Epub 2004 Oct 7. Eur J Pediatr. 2005. PMID: 15480779

3

Absence of breast-feeding is associated with the risk of type 1 diabetes: a case-control study in a population with rapidly increasing incidence.

Malcova H, Sumnik Z, Drevinek P, Venhacova J, Lebl J, Cinek O. Malcova H, et al. Among authors: lebl j. Eur J Pediatr. 2006 Feb;165(2):114-9. doi: 10.1007/s00431-005-0008-9. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211397

4

Risk of celiac disease in children with type 1 diabetes is modified by positivity for HLA-DQB1*02-DQA1*05 and TNF -308A.

Sumnik Z, Cinek O, Bratanic N, Kordonouri O, Kulich M, Roszai B, Arato A, Lebl J, Soltesz G, Danne T, Battelino T, Schober E. Sumnik Z, et al. Among authors: lebl j. Diabetes Care. 2006 Apr;29(4):858-63. doi: 10.2337/diacare.29.04.06.dc05-1923. Diabetes Care. 2006. PMID: 16567828

5

Thyroid autoimmunity in children with coexisting type 1 diabetes mellitus and celiac disease: a multicenter study.

Sumnik Z, Cinek O, Bratanic N, Lebl J, Rozsai B, Limbert C, Paskova M, Schober E. Sumnik Z, et al. Among authors: lebl j. J Pediatr Endocrinol Metab. 2006 Apr;19(4):517-22. J Pediatr Endocrinol Metab. 2006. PMID: 16759037

6

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.

Obermannova B, Banghova K, Sumník Z, Dvorakova HM, Betka J, Fencl F, Kolouskova S, Cinek O, Lebl J. Obermannova B, et al. Among authors: lebl j. Eur J Pediatr. 2009 May;168(5):569-73. doi: 10.1007/s00431-008-0794-y. Epub 2008 Aug 27. Eur J Pediatr. 2009. PMID: 18751724

7

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T, Cinek O, Lebl J. Pruhova S, et al. Among authors: lebl j. Pediatr Diabetes. 2010 Dec;11(8):529-35. doi: 10.1111/j.1399-5448.2010.00646.x. Pediatr Diabetes. 2010. PMID: 20337973

8

Bone geometry and volumetric bone mineral density in girls with Turner syndrome of different pubertal stages.

Soucek O, Lebl J, Snajderova M, Kolouskova S, Rocek M, Hlavka Z, Cinek O, Rittweger J, Sumnik Z. Soucek O, et al. Among authors: lebl j. Clin Endocrinol (Oxf). 2011 Apr;74(4):445-52. doi: 10.1111/j.1365-2265.2010.03955.x. Clin Endocrinol (Oxf). 2011. PMID: 21138463 Free article.

9

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.

Gonsorcikova L, Vaxillaire M, Pruhova S, Dechaume A, Dusatkova P, Cinek O, Pedersen O, Froguel P, Hansen T, Lebl J. Gonsorcikova L, et al. Among authors: lebl j. Pediatr Diabetes. 2011 May;12(3 Pt 2):266-9. doi: 10.1111/j.1399-5448.2010.00719.x. Epub 2011 Jan 9. Pediatr Diabetes. 2011. PMID: 21214702

10

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.

Dusatkova P, Pruhova S, Sumnik Z, Kolouskova S, Obermannova B, Cinek O, Lebl J. Dusatkova P, et al. Among authors: lebl j. J Pediatr Endocrinol Metab. 2011;24(3-4):187-9. doi: 10.1515/jpem.2011.083. J Pediatr Endocrinol Metab. 2011. PMID: 21648289

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