Agnieszka Pilarczyk-Madej

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 39 publications

Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation.

Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation.

Journal: Folia neuropathologica

Published: September 07, 2026

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Journal: Balkan journal of medical genetics : BJMG

Published: May 18, 2026

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

Journal: Genes

Published: May 04, 2026

Expanding the phenotypic spectrum of RYBP-related neurodevelopmental disorder: report of the ninth patient worldwide.

Expanding the phenotypic spectrum of RYBP-related neurodevelopmental disorder: report of the ninth patient worldwide.

Journal: Neurologia i neurochirurgia polska

Published: March 07, 2026

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Journal: Genes

Published: January 21, 2026

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Journal: Genes

Published: November 30, 2025

Giant ascending aortic aneurysm in a 12-year-old boy with a novel missense variant in the LOX gene.

Giant ascending aortic aneurysm in a 12-year-old boy with a novel missense variant in the LOX gene.

Journal: Kardiologia polska

Published: October 16, 2025

Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.

Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.

Journal: Orphanet journal of rare diseases

Published: August 28, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes

Published: August 20, 2025

Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities.

Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities.

Journal: Journal of applied genetics

Published: July 29, 2025

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Journal: Genes

Published: March 25, 2025

Showing 1-12 of 39

Last Updated: 09/26/2026