Monika Kugaudo

Warsaw, MZ, Poland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Journal: Kardiologia polska

Published: September 12, 2023

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.

Journal: Frontiers in immunology

Published: July 16, 2021

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Journal: Journal of applied genetics

Published: January 28, 2021

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Journal: Clinical dysmorphology

Published: December 06, 2019

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Journal: Clinical dysmorphology

Published: December 28, 2016

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Journal: American journal of medical genetics. Part A

Published: October 29, 2015

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: September 14, 2015

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: September 22, 2014

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: July 09, 2014

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Journal: European journal of medical genetics

Published: May 26, 2014

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Journal: Journal of applied genetics

Published: January 08, 2014

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

Journal: American journal of medical genetics. Part A

Published: December 05, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026