Detalhe da pesquisa
1.
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
J Hum Genet
; 61(7): 577-83, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030147
2.
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
BMC Pediatr
; 13: 27, 2013 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23421922
3.
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.
Pediatr Int
; 55(6): e162-4, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330304
4.
Central Diabetes Insipidus in Children as a Diagnostic Challenge.
Clin Pediatr (Phila)
; : 99228231202607, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798950
5.
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.
Front Pediatr
; 10: 990111, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313893
6.
Uterine Development During Induced Puberty in Girls with Turner Syndrome.
Front Endocrinol (Lausanne)
; 12: 707031, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34295308
7.
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.
Endokrynol Pol
; 72(2): 108-119, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33295632
8.
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.
J Appl Genet
; 62(4): 621-629, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34235642
9.
Effects of Recombinant Human Growth Hormone Treatment, Depending on the Therapy Start in Different Nutritional Phases in Paediatric Patients with Prader-Willi Syndrome: A Polish Multicentre Study.
J Clin Med
; 10(14)2021 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34300343
10.
Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader-Willi Syndrome.
Diagnostics (Basel)
; 11(5)2021 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33925106
11.
The influence of growth hormone therapy on the cardiovascular system in Turner syndrome.
J Pediatr Endocrinol Metab
; 33(11): 1363-1372, 2020 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151179
12.
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Front Endocrinol (Lausanne)
; 11: 368, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32612575
13.
Usefulness of growth hormone (GH) stimulation tests and IGF-I concentration measurement in GH deficiency diagnosis.
J Pediatr Endocrinol Metab
; 21(6): 569-79, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18717243
14.
The Usefulness of Magnetic Resonance Imaging of the Cardiovascular System in the Diagnostic Work-Up of Patients With Turner Syndrome.
Front Endocrinol (Lausanne)
; 9: 609, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459711
15.
[Y chromosome in Turner syndrome]. / Chromosom Y w zespole Turnera.
Pediatr Endocrinol Diabetes Metab
; 23(1): 37-41, 2017.
Artigo
em Polonês
| MEDLINE | ID: mdl-29073306
16.
Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome.
Sex Dev
; 11(5-6): 254-261, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29248931
17.
[Estimation of growth hormone secretion during sleep as a screening test in the diagnosis of GH deficiency]. / Ocena wydzielania hormonu wzrostu po zasnieciu jako badanie przesiewowe w diagnostyce somatotropinowej niedoczynnosci przysadki.
Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw
; 12(4): 274-9, 2006.
Artigo
em Polonês
| MEDLINE | ID: mdl-17239305
18.
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt.
Arch Immunol Ther Exp (Warsz)
; 64(6): 485-495, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26970862
19.
The effects of growth hormone treatment in patients with somatotropin deficiency during their developmental age.
Endokrynol Pol
; 56(3): 246-51, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16350717
20.
The usefulness of the GHRH stimulation test in the diagnostics of growth hormone deficiency in children.
Endokrynol Pol
; 66(2): 137-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931044