Lista de obras - Bartlomiej Budny - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2013

CCND1 gene polymorphic variants in patients with differentiated thyroid carcinoma

artículo científico publicado en 2014

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

artículo científico publicado en 2021

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis

artículo científico publicado en 2020

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Head and Neck Paragangliomas-A Genetic Overview

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

artículo científico publicado en 2017

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

artículo científico publicado en 2022

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

PAX6 3' deletion in a family with aniridia

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

Lista de obras de Bartlomiej Budny

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

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

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

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

CCND1 gene polymorphic variants in patients with differentiated thyroid carcinoma

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

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency

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

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

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

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

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

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

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

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

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

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

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

Head and Neck Paragangliomas-A Genetic Overview

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

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

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

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

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

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

PAX6 3' deletion in a family with aniridia

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

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

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

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

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

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

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

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