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List of works by Bartlomiej Budny

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

scientific article

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

scientific article

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

Alternative 3' acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers

scientific article published on 16 December 2013

CCND1 gene polymorphic variants in patients with differentiated thyroid carcinoma

scientific article

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

scientific article published on 08 July 2021

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis

scientific article published on 21 July 2020

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency

scientific article published on 11 August 2020

Correction to: Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis

scientific article published on 01 March 2019

Cyclin D1 and CHEK2 polymorphic variants as low risk susceptibility alleles in DTC patients.

scientific article

Determinants of Visfatin/NAMPT Serum Concentration and its Leukocyte Expression in Hyperthyroidism

scientific article published on 05 September 2018

Differences in Mutational Profile between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma Identified Using Next Generation Sequencing

scientific article published on 26 June 2019

Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis

scientific article published on 01 March 2019

Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients

scientific article

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

scientific article published on 10 February 2011

Fluorescence in situ hybridization (FISH)--application in research and diagnostics.

scientific article published on January 2002

Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis

scientific article published on 19 September 2019

Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum

scientific article published on 4 December 2015

Genomic markers of ovarian adenocarcinoma and its relevancy to the effectiveness of chemotherapy

scientific article published on 17 July 2017

Head and Neck Paragangliomas-A Genetic Overview

scientific article published on 16 October 2020

High incidence of FLT3 mutations in follicular thyroid cancer: potential therapeutic target in patients with advanced disease stage

scientific article published on 04 March 2020

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course

scientific article published on 31 January 2018

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

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

scientific article published on 19 April 2010

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

scientific article

PAX6 3' deletion in a family with aniridia

scientific article published on 10 October 2011

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

scientific article published on 12 March 2016

RET gene mutations spectrum in patients with medullary thyroid carcinoma (MTC) from Great Poland region.

scientific article published on 26 November 2015

The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population

scientific article

The influence of radioiodine therapy on ocular changes and their relation to urine cotinine level in patients with Graves' Ophthalmopathy

The role of serum C-reactive protein measured by high-sensitive method in thyroid disease

scientific article

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

scientific article

VEGF-C Is a Thyroid Marker of Malignancy Superior to VEGF-A in the Differential Diagnostics of Thyroid Lesions

scientific article

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy]

scientific article published on 01 September 2000

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