Detalhe da pesquisa
1.
Primary School Performance of Girls with Turner Syndrome: A Transcultural Assessment.
Pediatr Endocrinol Rev
; 17(2): 117-124, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31763804
2.
The importance of advanced parental age in the origin of neurofibromatosis type 1.
Am J Med Genet A
; 158A(3): 519-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302476
3.
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 166(1): 63-67, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33463629
4.
Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features.
Horm Res Paediatr
; 95(5): 465-475, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970147
5.
Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.
PeerJ
; 8: e10236, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33240610
6.
An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome.
J Pediatr Endocrinol Metab
; 32(5): 479-488, 2019 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31075085
7.
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
Eur J Pediatr
; 167(7): 777-83, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17876604
8.
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene.
J Pediatr Endocrinol Metab
; 21(12): 1179-84, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19189692
9.
CTLA-4 gene polymorphisms predispose to autoimmune endocrinopathies but not to celiac disease.
Neuro Endocrinol Lett
; 29(3): 334-40, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18580850
10.
Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 162(1): 65-70, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469136
11.
Prospective study of hypothalamo-hypophyseal dysfunction in children and adolescents following traumatic brain injury.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 161(1): 80-85, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27646495
12.
Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.
J Pediatr Endocrinol Metab
; 30(3): 319-325, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28236629
13.
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
Eur J Endocrinol
; 153(3): 389-96, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16131601
14.
Effect of growth hormone (GH) treatment on bone in postpubertal GH-deficient patients: a 2-year randomized, controlled, dose-ranging study.
J Clin Endocrinol Metab
; 88(9): 4124-9, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12970274
15.
Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR.
J Biochem Biophys Methods
; 60(2): 151-62, 2004 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-15262449
16.
Dysfunction of hypothalamic-hypophysial axis after traumatic brain injury in adults.
J Neurosurg
; 113(3): 581-4, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19929195
17.
Integration of evidence-based practice in bedside teaching paediatrics supported by e-learning.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 154(1): 83-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445715
18.
Biosimilars: controversies as illustrated by rhGH.
Curr Med Res Opin
; 26(5): 1219-29, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20302553
19.
The uterine length in women with Turner syndrome reflects the postmenarcheal daily estrogen dose.
Horm Res
; 60(4): 198-204, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14530609