Obara-Moszyńska M - Search Results

1

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.

Szczawińska-Popłonyk A, Popłonyk N, Niedziela M, Sowińska-Seidler A, Sztromwasser P, Jamsheer A, Obara-Moszyńska M. Szczawińska-Popłonyk A, et al. Among authors: obara moszynska m. Front Pediatr. 2022 Oct 14;10:990111. doi: 10.3389/fped.2022.990111. eCollection 2022. Front Pediatr. 2022. PMID: 36313893 Free PMC article.

2

[Estimation of growth hormone secretion during sleep as a screening test in the diagnosis of GH deficiency].

Obara-Moszyńska M, Korman E, Kedzia A, Rabska-Pietrzak B, Niedziela M. Obara-Moszyńska M, et al. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006;12(4):274-9. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006. PMID: 17239305 Polish.

3

Usefulness of growth hormone (GH) stimulation tests and IGF-I concentration measurement in GH deficiency diagnosis.

Obara-Moszyńska M, Kedzia A, Korman E, Niedziela M. Obara-Moszyńska M, et al. J Pediatr Endocrinol Metab. 2008 Jun;21(6):569-79. J Pediatr Endocrinol Metab. 2008. PMID: 18717243 Clinical Trial.

4

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.

Rojek A, Obara-Moszynska M, Malecka E, Slomko-Jozwiak M, Niedziela M. Rojek A, et al. J Appl Genet. 2013 May;54(2):225-30. doi: 10.1007/s13353-013-0135-3. Epub 2013 Feb 2. J Appl Genet. 2013. PMID: 23378245 No abstract available.

5

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.

Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M. Obara-Moszynska M, et al. BMC Pediatr. 2013 Feb 20;13:27. doi: 10.1186/1471-2431-13-27. BMC Pediatr. 2013. PMID: 23421922 Free PMC article.

6

Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.

Obara-Moszynska M, Wielanowska W, Rojek A, Wolnik-Brzozowska D, Niedziela M. Obara-Moszynska M, et al. Pediatr Int. 2013 Dec;55(6):e162-4. doi: 10.1111/ped.12215. Pediatr Int. 2013. PMID: 24330304

7

The usefulness of the GHRH stimulation test in the diagnostics of growth hormone deficiency in children.

Obara-Moszyńska M, Niedziela M. Obara-Moszyńska M, et al. Endokrynol Pol. 2015;66(2):137-41. doi: 10.5603/EP.2015.0021. Endokrynol Pol. 2015. PMID: 25931044 Free article.

8

Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

Obara-Moszynska M, Banaszak M, Niedziela M. Obara-Moszynska M, et al. Pediatr Endocrinol Diabetes Metab. 2015;20(2):75-81. doi: 10.18544/PEDM-20.02.0006. Pediatr Endocrinol Diabetes Metab. 2015. PMID: 26615017 Free article.

9

Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt.

Ziemnicka K, Gut P, Gołąb M, Dworacki G, Wrotkowska E, Stajgis M, Katulska K, Rabska-Pietrzak B, Obara-Moszyńska M, Niedziela M, Budny B, Kałużna M, Waśko R, Ruchała M. Ziemnicka K, et al. Arch Immunol Ther Exp (Warsz). 2016 Dec;64(6):485-495. doi: 10.1007/s00005-016-0386-x. Epub 2016 Mar 12. Arch Immunol Ther Exp (Warsz). 2016. PMID: 26970862 Free PMC article.

10

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T. Jamsheer A, et al. J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030147

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