List of works - Aleksandra Jezela-Stanek

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

scientific article published in November 2007

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

scientific article published on 31 March 2016

Angelman syndrome revisited

scientific article published in September 2007

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

scientific article published on 01 September 2019

CHILD syndrome: clinical picture and diagnostic procedures

scientific article published on 01 May 2007

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

scientific article published on 05 September 2022

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

scientific article published in January 2016

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

scientific article published in 2024

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

scientific article published on 4 February 2016

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

scientific article published in March 2011

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

scientific article published in December 2004

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

scientific article published on 13 July 2019

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

scientific article published on 16 June 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?

scientific article published on 07 December 2020

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

scientific article published on 29 July 2020

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

scientific article published on 10 July 2019

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

scientific article published on 15 July 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

scientific article published on 01 January 2020

Genetic causes of syndromic craniosynostoses

scientific article published on 11 October 2012

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

scientific article published on 20 February 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?

scientific article published on 01 April 2012

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

scientific article published on 21 December 2019

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

Interstitial Lung Disease in Rare Congenital Syndromes

scientific article published on 29 July 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.

scientific article published on 11 November 2014

Is leucodystrophy really a feature of PIGT-CDG?

scientific article published on 14 February 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.

scientific article published on January 2015

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

scientific article published on 29 February 2016

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

scientific article published in January 2006

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

scientific article published on 08 December 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

scientific article published on 17 February 2012

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

scientific article published on 26 June 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?

scientific article published on 01 September 2014

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

scientific article published on 28 March 2019

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

scientific article published on 30 March 2019

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

scientific article published on 23 December 2016

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

scientific article published on 01 July 2019

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

scientific article

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

scientific article published on 27 March 2017

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

scientific article published on 01 January 2016

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

scientific article published on January 2015

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

scientific article published on 02 December 2020

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

scientific article published on 14 October 2020

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

scientific article published on 08 January 2020

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

scientific article published on 08 August 2014

The genetic basis of classical galactosaemia in Polish patients

scientific article published on 24 May 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.

scientific article published in August 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

scientific article published on 18 June 2020

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

scientific article published on 02 February 2015

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

scientific article

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

scientific article published on 01 March 2007

List of works by Aleksandra Jezela-Stanek

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]