Lista de obras -

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

scientific article published on 19 November 2012

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication

artículo científico publicado en 2007

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

Angelman syndrome revisited

artículo científico publicado en 2007

Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation

artículo científico publicado en 2019

CHILD syndrome: clinical picture and diagnostic procedures

artículo científico publicado en 2007

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

artículo científico publicado en 2022

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

artículo científico publicado en 2016

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT)

artículo científico publicado en 2024

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

artículo científico publicado en 2016

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

artículo científico publicado en 2011

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

artículo científico publicado en 2004

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

artículo científico publicado en 2019

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

artículo científico publicado en 2010

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

artículo científico publicado en 2020

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant - delineation based on seven novel Polish patients

artículo científico publicado en 2020

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series

scientific article published on 22 November 2020

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification

artículo científico publicado en 2020

Genetic causes of syndromic craniosynostoses

artículo científico

Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635

artículo científico publicado en 2020

Hereditary neuropathy with liability to pressure palsy

scientific article published on 01 January 2006

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

artículo científico publicado en 2012

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

artículo científico publicado en 2019

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

Interstitial Lung Disease in Rare Congenital Syndromes

artículo científico publicado en 2020

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

Is leucodystrophy really a feature of PIGT-CDG?

artículo científico publicado en 2020

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

scientific article published on 23 September 2020

MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.

artículo científico

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

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

artículo científico publicado en 2006

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

artículo científico publicado en 2007

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

scientific article published on 20 December 2018

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

artículo científico publicado en 2012

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

artículo científico publicado en 2020

Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review

scientific article published on 08 June 2020

Noninvasive prenatal testing of aneuploidies: where are we now?

artículo científico publicado en 2014

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

artículo científico publicado en 2019

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

artículo científico publicado en 2019

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

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

artículo científico publicado en 2015

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION

artículo científico publicado en 2016

Polish activity within Orphanet Europe--state of art of database and services

artículo científico

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

artículo científico publicado en 2020

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOSC2 Gene

artículo científico publicado en 2020

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review

artículo científico publicado en 2020

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

artículo científico publicado en 2014

The genetic basis of classical galactosaemia in Polish patients

artículo científico publicado en 2021

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

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

article

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

artículo científico publicado en 2015

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome

scientific article published on 01 January 2009

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

artículo científico publicado en 2020

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

artículo científico publicado en 2015

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

artículo científico publicado en 2009

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]

artículo científico publicado en 2007

Lista de obras de

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication

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

Angelman syndrome revisited

Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation

CHILD syndrome: clinical picture and diagnostic procedures

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT)

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant - delineation based on seven novel Polish patients

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

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

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification

Genetic causes of syndromic craniosynostoses

Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635

Hereditary neuropathy with liability to pressure palsy

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

Infectious and immunologic phenotype of MECP2 duplication syndrome

Interstitial Lung Disease in Rare Congenital Syndromes

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 leucodystrophy really a feature of PIGT-CDG?

Lessons learned from 40 novel PIGA patients and a review of the literature

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.

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

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review

Noninvasive prenatal testing of aneuploidies: where are we now?

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

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

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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION

Polish activity within Orphanet Europe--state of art of database and services

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOSC2 Gene

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review

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

The genetic basis of classical galactosaemia in Polish patients

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

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]