Lista de obras - Dorota Jurkiewicz - Dominio Público Uruguay

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

artículo científico publicado en 2015

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

artículo científico publicado en 2005

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

artículo científico publicado en 2016

Anthropometric characteristics of X-linked hypophosphatemia

artículo científico publicado en 2004

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

artículo científico publicado en 2003

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

artículo científico publicado en 2010

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

artículo científico publicado en 2010

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Molecular studies of Polish patients with respiratory chain complex I deficiency

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

scientific article published on 21 May 2020

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

artículo científico publicado en 2014

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

artículo científico publicado en 2020

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

scientific article published on 26 April 2020

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients

artículo científico publicado en 2005

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

artículo científico publicado en 2015

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

scientific article published on 09 December 2020

Lista de obras de Dorota Jurkiewicz

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

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

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

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Anthropometric characteristics of X-linked hypophosphatemia

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

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.

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

Molecular studies of Polish patients with respiratory chain complex I deficiency

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

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

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

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

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

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