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List of works by Marek Niedziela

A new calibration method for charm jet identification validated with proton-proton collision events at √s = 13 TeV

scholarly article

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

scientific article

A prospective study of thyroid nodular disease in children and adolescents in western Poland from 1996 to 2000 and the incidence of thyroid carcinoma relative to iodine deficiency and the Chernobyl disaster

scientific article published on January 2004

Abstracts and short papers from the 5th Congress of the Polish Thyroid Association, Poznan, 3-5 September, 2015: Poznan, Poland. 3-5 September 2015.

scientific article published on 6 December 2016

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

scientific article published on 28 February 2013

Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations.

scientific article published in January 2016

Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis

scientific article

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

scientific article published on 14 January 2013

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

scientific article published on 01 January 2012

Birth Weight in Different Etiologies of Disorders of Sex Development

scientific article published on March 2017

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy

scientific article published on 08 July 2021

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

scientific article published on 4 August 2014

Clinical relevance of thyroid-stimulating autoantibodies in pediatric graves' disease-a multicenter study

scientific article

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

scientific article

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

scientific article published on 20 March 2017

Diagnosis and treatment of thyroid cancer in adult patients — Recommendations of Polish Scientific Societies and the National Oncological Strategy. 2022 Update [Diagnostyka i leczenie raka tarczycy u chorych dorosłych — Rekomendacje Polskich Tow

scientific article published on 27 April 2022

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

scientific article

Diagnostics and Treatment of Thyroid Carcinoma

scientific article

Diagnostics and treatment of differentiated thyroid carcinoma in children - Guidelines of Polish National Societies.

scientific article

Effectiveness and safety of fluticasone propionate in therapy of children suffering from asthma. Part I. Mechanisms of actions and clinical effectiveness of treatment in children with asthma

scientific article published in January 2004

Effectiveness and safety of fluticasone propionate in therapy of children suffering from asthma. Part II. Safety aspects of therapy with fluticasone propionate in asthmatic children

scientific article published in January 2004

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

scientific article published on 31 March 2016

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

scientific article published on 25 September 2013

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

scientific article published in January 2015

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

scientific article published in January 2018

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

scientific article published on 21 October 2009

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

scientific article published on January 1, 2010

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

article

Mental health and adjustment to juvenile idiopathic arthritis: Level of agreement between parent and adolescent reports according to Strengths and Difficulties Questionnaire and Adolescent Outcomes Questionnaire

scientific article

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

scientific article published on 16 December 2017

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

scientific article published on 25 April 2018

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

scientific article

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

scientific article

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

scientific article published on 21 March 2022

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

scientific article published on 2 February 2013

PAPP-A2 a new key regulator of growth

scientific article

Papillary thyroid carcinoma in a boy with familial tuberous sclerosis complex attributable to a TSC2 deletion-a case report.

scientific article published on 25 October 2017

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

scientific article published on 12 March 2016

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas

scientific article published on 08 August 2016

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

scientific article published on 16 June 2020

Serum TNF-α levels and indicators of disease activity in children with oligoarticular juvenile idiopathic arthritis (oJIA) in the first year of the disease.

scientific article published in January 2014

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

scientific article published on 8 June 2014

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

scientific article

The Usefulness of Magnetic Resonance Imaging of the Cardiovascular System in the Diagnostic Work-Up of Patients With Turner Syndrome

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

scientific article published on December 2006

The influence of growth hormone therapy on the cardiovascular system in Turner syndrome

scientific article published on 01 November 2020

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

scientific article published on 01 January 2011

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

scientific article published in January 2002

Transverse testicular ectopia with abnormal karyotype - a case report

scientific article published on January 1, 2011

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

scientific article

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

scientific article

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

scientific article published in October 2008

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

scientific article published on 30 August 2016

X-linked hypophosphatemic rickets in children: clinical phenotype, therapeutic strategies and molecular background

scientific article published on 09 December 2020

Y chromosome in Turner syndrome

scientific article published in January 2017

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

scientific article

[Management of thyroid diseases during pregnancy]

scientific article published on 01 January 2011

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

scientific article

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