Marek Niedziela

Marek Niedziela

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Marek Niedziela

Marek Niedziela

Publications by authors named "Marek Niedziela"

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Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome.

Sex Dev 2017 16;11(5-6):254-261. Epub 2017 Dec 16.

Department of Paediatric Endocrinology and Rheumatology, 2nd Chair of Paediatrics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1159/000484880DOI Listing
October 2018

Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units.

Horm Res Paediatr 2018 25;89(4):255-264. Epub 2018 Apr 25.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Medical Center SH, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1159/000488028DOI Listing
October 2018

Is growth without IGF1 possible? A case report.

Pediatr Endocrinol Diabetes Metab 2017 ;23(4):215-220

Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Poznan University of Medical Sciences.

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http://dx.doi.org/10.18544/PEDM-23.04.0096DOI Listing
September 2018

Guidelines of Polish National Societies Diagnostics and Treatment of Thyroid Carcinoma. 2018 Update.

Endokrynol Pol 2018 ;69(1):34-74

Nuclear Medicine and Endocrine Oncology Department; M.Sklodowska-Curie Memorial Institute - Cancer Center, Gliwice Branch, Wybrzeze AK 15, 44-100 Gliwice, Poland; Zakład Medycyny Nuklearnej i Endokrynologii Onkologicznej, Centrum Onkologii-Instytut im. Marii Skłodowskiej-Curie, Oddział w Gliwicach, Wybrzeże AK 15, 44-100 Gliwice, Poland.

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http://dx.doi.org/10.5603/EP.2018.0014DOI Listing
July 2018

[Y chromosome in Turner syndrome].

Pediatr Endocrinol Diabetes Metab 2017 ;23(1):37-41

Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Medical Faculty I, Poznan University of Medical Sciences, Poland.

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http://dx.doi.org/10.18544/PEDM-23.01.0072DOI Listing
June 2018

PAPP-A2 a new key regulator of growth.

Endokrynol Pol 2017 ;68(6):682-691

Poznan University of Medical Sciences 2nd Chair of Paediatrics Department of Paediatric Endocrinology and Rheumatology.

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https://journals.viamedica.pl/endokrynologia_polska/article/
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http://dx.doi.org/10.5603/EP.a2017.0060DOI Listing
January 2018

The Pediatric Outcomes Data Collection Instrument for a Polish sample with juvenile idiopathic arthritis: psychometric properties of proxy version.

Int J Rheum Dis 2017 Dec 10;20(12):2077-2085. Epub 2015 Sep 10.

Department of Pediatric Orthopedics and Traumatology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1111/1756-185X.12738DOI Listing
December 2017

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

Pediatr Endocrinol Diabetes Metab 2015 ;20(2):75-81

Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences.

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http://dx.doi.org/10.18544/PEDM-20.02.0006DOI Listing
September 2017

Diagnostic significance of serum concentrations of soluble Fas ligand (sFasL) in children with autoimmune thyroid disease.

Autoimmunity 2017 May 21;50(3):192-198. Epub 2017 Feb 21.

a Department of Pediatric Endocrinology and Rheumatology and.

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http://dx.doi.org/10.1080/08916934.2017.1289180DOI Listing
May 2017

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

Endokrynol Pol 2015 ;66(2):137-41

Department of Paediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences.

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http://dx.doi.org/10.5603/EP.2015.0021DOI Listing
February 2017

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Int J Endocrinol 2016 30;2016:5178953. Epub 2016 Aug 30.

Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, 27/33 Szpitalna Street, 60-572 Poznan, Poland; Karol Jonscher's Clinical Hospital, 27/33 Szpitalna Street, 60-572 Poznan, Poland.

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http://dx.doi.org/10.1155/2016/5178953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021503PMC
September 2016

Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations.

J Low Genit Tract Dis 2016 Jan;20(1):e8-e10

Department of Human Genetics McGill University Montreal, Quebec Canada Lady Davis Institute Segal Cancer Centre Jewish General Hospital Montreal, Quebec Canada Lady Davis Institute Segal Cancer Centre Jewish General Hospital Montreal, Quebec Canada Department of Gynecologic Oncology IRCCS National Cancer Institute Milan, Italy Department of Oncology Medical Center HCP Poznan, Poland Department of Pediatric Endocrinology and Rheumatology Poznan University of Medical Sciences Poznan, Poland Department of Human Genetics McGill University Montreal, Quebec Canada Lady Davis Institute Segal Cancer Centre Jewish General Hospital Montreal, Quebec Canada Department of Medical Genetics Research Institute of the McGill University Health Centre Montreal, Quebec Canada

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/LGT.0000000000000149DOI Listing
January 2016

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.

Hormones (Athens) 2014 Jul-Sep;13(3):413-9

Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Molecular Endocrinology Laboratory, Karol Jonscher's Clinical Hospital of Poznan University of Medical Sciences, Department of Pediatric Endocrinology and Rheumatology, Poznan, Poland.

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http://dx.doi.org/10.14310/horm.2002.1495DOI Listing
October 2015

The clinical role of serum concentrations of selected cytokines: IL-1β, TNF-α and IL-6 in diagnosis of autoimmune thyroid disease (AITD) in children.

Autoimmunity 2014 Nov 7;47(7):466-72. Epub 2014 May 7.

Department of Pediatric Endocrinology and Rheumatology .

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http://dx.doi.org/10.3109/08916934.2014.914175DOI Listing
November 2014

Changes over time in sex assignment for disorders of sex development.

Pediatrics 2014 Sep 4;134(3):e710-5. Epub 2014 Aug 4.

Pediatric Endocrinology and Diabetes Unit, Dana Children's Hospital, Tel Aviv, Israel; Sourasky Medical Center, Tel Aviv, Israel; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1542/peds.2014-1088DOI Listing
September 2014

Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.

Mol Cell Endocrinol 2014 Aug 8;393(1-2):39-45. Epub 2014 Jun 8.

Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 20, D-04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2014.05.023DOI Listing
August 2014

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Eur J Hum Genet 2014 Apr 25;22(4):564-7. Epub 2013 Sep 25.

1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada [3] The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953921PMC
April 2014

Thyroid nodules.

Authors:
Marek Niedziela

Best Pract Res Clin Endocrinol Metab 2014 Mar 30;28(2):245-77. Epub 2013 Aug 30.

Department of Paediatric Endocrinology and Rheumatology, 2nd Chair of Paediatrics, Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572 Poznan, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2013.08.007DOI Listing
March 2014

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

Pediatr Int 2013 Dec;55(6):e162-4

Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1111/ped.12215DOI Listing
December 2013

Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation: case report.

Arch Med Sci 2013 Aug 28;9(4):761-4. Epub 2013 Feb 28.

Department of Paediatric Endocrinology and Rheumatology, Molecular Endocrinology Laboratory, Poznan University of Medical Sciences, Poland.

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http://dx.doi.org/10.5114/aoms.2012.32791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776169PMC
August 2013

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

J Appl Genet 2013 May 2;54(2):225-30. Epub 2013 Feb 2.

Department of Pediatric Endocrinology and Rheumatology, Molecular Endocrinology Laboratory, Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572, Poznan, Poland.

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http://dx.doi.org/10.1007/s13353-013-0135-3DOI Listing
May 2013

Amiodarone-induced thyrotoxicosis with paroxysmal supraventricular (ectopic atrial) tachycardia: case report and review of the literature.

Arch Med Sci 2013 Apr 14;9(2):372-6. Epub 2013 Jan 14.

Department of Pediatric Endocrinology and Rheumatology, 2 Chair of Pediatrics, Poznan University of Medical Sciences, Poznan ; Students Circle of Pediatric Endocrinology and Rheumatology.

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http://dx.doi.org/10.5114/aoms.2012.32790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648818PMC
April 2013

Testicular adrenal rest tumors (TARTs) as a male infertility factor. Case report.

Ginekol Pol 2012 Sep;83(9):700-2

Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Karol Marcinkowski University of Medical Sciences, Poznan, Poland.

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September 2012

Autoimmune thyroid disease and allergic contact dermatitis: two immune-related pathologies in the same patient.

J Pediatr Endocrinol Metab 2012 ;25(1-2):31-2

Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1515/jpem-2011-0392DOI Listing
May 2012

[Amiodarone and thyroid function].

Kardiol Pol 2011 ;69(5):493-8

Klinika Endokrynologii i Reumatologii Dziecięcej, II Katedra Pediatrii, Uniwersytet Medyczny im. Karola Marcinkowskiego, Poznań.

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October 2011

Transverse testicular ectopia with abnormal karyotype - a case report.

Neuro Endocrinol Lett 2011 ;32(4):408-10

Department of Pediatric Surgery, University of Medical Sciences, Poznan, Poland.

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October 2011

The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism.

Authors:
Marek Niedziela

J Pediatr Endocrinol Metab 2011 ;24(7-8):549-50

Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1515/jpem.2011.180DOI Listing
October 2011

[Diagnosis and treatment of thyroid cancer - Polish guidelines].

Endokrynol Pol 2010 Sep-Oct;61(5):518-68

Polskie Towarzystwo Endokrynologiczne.

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August 2011

FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid.

Horm Res Paediatr 2011 10;75(5):329-34. Epub 2011 Feb 10.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1159/000322874DOI Listing
August 2011

[Insulin receptor defect as a cause of Rabson-Mendenhall syndrome and other rare genetic insulin resistance syndromes].

Pediatr Endocrinol Diabetes Metab 2010 ;16(3):205-12

II Katedra Pediatrii, Wydzial Lekarski I Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu.

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February 2011

Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case-control study.

Eur J Endocrinol 2010 Jan 21;162(1):153-60. Epub 2009 Oct 21.

Department of Endocrinology, Metabolism and Internal Medicine, University of Medical Sciences, Poznań, Poland.

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https://eje.bioscientifica.com/view/journals/eje/162/1/153.x
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http://dx.doi.org/10.1530/EJE-09-0590DOI Listing
January 2010

[Molecular analysis of the corticotropin-releasing hormone receptor type 2 gene fragment in anorexia nervosa].

Psychiatr Pol 2008 Mar-Apr;42(2):209-18

Klinika Endokrynologii i Diabetologii Wieku Rozwojowego, II Katedra Pediatrii Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu.

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October 2009

Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter.

Authors:
Marek Niedziela

Pediatr Blood Cancer 2008 Oct;51(4):543-5

Department of Pediatric Endocrinology and Diabetes, 2nd Chair of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/pbc.21675DOI Listing
October 2008

[Is body mass index associated with asthma in children?].

Pneumonol Alergol Pol 2008 ;76(2):88-95

Klinika Pneumonologii, Alergologii Dzieciecej i Immunologii Klinicznej III Katedry Peiatrii Uniwersytetu Medycznego w Poznaniu, Poland.

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July 2008

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

J Pediatr Endocrinol Metab 2008 Jun;21(6):569-79

Department of Pediatric Endocrinology and Diabetes, University of Medical Sciences, Poznań, Poland.

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June 2008

Adrenal function in children with severe asthma treated with high-dose inhaled glucocorticoids: recommended screening tests in outpatient conditions.

J Pediatr Endocrinol Metab 2007 Jul;20(7):781-9

Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Poland.

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http://dx.doi.org/10.1515/jpem.2007.20.7.781DOI Listing
July 2007

The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy.

Pediatr Endocrinol Rev 2006 Dec-2007 Jan;4(2):117-37

Department of Pediatric Endocrinology and Diabetes, Poznan University of Medical Sciences, Poznan, Poland.

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May 2007

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

Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 2006 ;12(4):274-9

Klinika Endokrynologii i Diabetologii Wieku Rozwojowego II Katedry Pediatrii AM w Poznaniu, Poznań.

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March 2007

[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease].

Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 2005 ;11(3):191-4

Klinika Endokrynologii i Diabetologii Wieku Rozwojowego, II Katedra Pediatrii AM im. Karola Marcinkowskiego, 60-572 Poznań, Poland.

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December 2005

Galectin-3 is not an universal marker of malignancy in thyroid nodular disease in children and adolescents.

J Clin Endocrinol Metab 2002 Sep;87(9):4411-5

Department of Pediatric Endocrinology and Diabetes, Institute of Pediatrics, Karol Marcinkowski University of Medical Sciences in Poznan, Poland.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2002-020387DOI Listing
September 2002

Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome.

J Appl Genet 2002 ;43(1):109-14

Department of Biochemistry and Molecular Biology, Karol Marcinkowski University of Medical Sciences, Poznań, Poland.

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July 2002

Thyroid carcinoma in a fourteen-year-old boy with Graves disease.

Med Pediatr Oncol 2002 Apr;38(4):290-1

Department of Pediatric Endocrinology and Diabetes, Karol Marcinkowski University of Medical Sciences-Poznan, Szpitalna Street 27/33, 60-572 Poznan, Poland.

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http://dx.doi.org/10.1002/mpo.1330DOI Listing
April 2002