E. Obersztyn

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

P. Stankiewicz, C. Shaw, E. Obersztyn, 2013, Journal of Applied Genetics.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

E. Obersztyn, A. Charzewska, A. Dufke, 2018, Clinical genetics.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

E. Obersztyn, M. Gos, A. Kutkowska-Kaźmierczak, 2018, Journal of Applied Genetics.

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

E. Obersztyn, D. Massalska, J. Bijok, 2022, Genes.

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

J. Vermeesch, E. Obersztyn, A. Kucińska-Chahwan, 2020, Molecular cytogenetics.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

E. Obersztyn, M. Roszkowska-Blaim, Grażyna Krzemień, 2016, Developmental period medicine.

A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome‐wide array‐CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2007, American journal of medical genetics. Part A.

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation

P. Stankiewicz, J. Lupski, E. Obersztyn, 2005, Human Genetics.

[Moebius syndrome with facial-dental impairments - rare or rather seldom diagnosed syndrome?].

E. Obersztyn, E. Bocian, T. Matthews‑Brzozowska, 2012, Medycyna wieku rozwojowego.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH

P. Stankiewicz, E. Obersztyn, T. Mazurczak, 2000, Journal of medical genetics.

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L‐DOPA in the cerebrospinal fluid

P. Stankiewicz, Z. Xia, E. Obersztyn, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

R. Hochstenbach, M. Poot, E. Obersztyn, 2015, Molecular Syndromology.

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C. Shaw, E. Obersztyn, K. Derwinska, 2012 .

Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?

E. Obersztyn, M. Bednarska-Makaruk, B. Ryniewicz, 2020, Neurologia i neurochirurgia polska.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Molecular and clinical studies of Polish patients with Prader-Willi syndrome.

E. Obersztyn, T. Mazurczak, E. Bocian, 1996, Acta geneticae medicae et gemellologiae.

Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab

E. Obersztyn, A. Landowska, M. Gos, 2016, Genes.

Null variants in AGRN cause lethal fetal akinesia deformation sequence

E. Obersztyn, M. Smyk, B. Nowakowska, 2019, Clinical genetics.

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

P. Stankiewicz, S. Cheung, E. Obersztyn, 2007, American journal of medical genetics. Part A.

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

P. Stankiewicz, J. Lupski, E. Obersztyn, 2005, Human genetics.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

E. Obersztyn, B. Wiśniowiecka-Kowalnik, M. Smyk, 2022, Journal of Assisted Reproduction and Genetics.

GAPO syndrome (Radiographic clues to early diagnosis).

E. Obersztyn, A. Baxova, J. Zeman, 1997, La Radiologia medica.

The genetics of obesity - Pathogenetic, clinical and diagnostic aspects

E. Obersztyn, A. Barczyk, J. Castañeda, 2017, Developmental period medicine.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

E. Obersztyn, A. Kutkowska-Kaźmierczak, J. Bal, 2015, Journal of Applied Genetics.

The mutational spectrum in Waardenburg syndrome.

W. Reardon, M. Tassabehji, E. Obersztyn, 1994, Human molecular genetics.

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

E. Obersztyn, M. Gos, Natalia Bezniakow, 2014, Developmental period medicine.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

E. Obersztyn, A. Kutkowska-Kaźmierczak, J. Bal, 2015, Journal of Applied Genetics.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies

P. Stankiewicz, E. Obersztyn, A. Kutkowska-Kaźmierczak, 2002, Journal of medical genetics.

Cytogenetic and molecular characterization of two isodicentric Y chromosomes.

P. Stankiewicz, E. Obersztyn, G. Rappold, 2001, American journal of medical genetics.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

E. Obersztyn, E. Jamroz, W. Wiszniewski, 2021, Genes.

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

E. Obersztyn, B. Nowakowska, T. Mazurczak, 2005, Journal of applied genetics.

Assessment of the role of copy-number variants in 150 patients with congenital heart defects.

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, Medycyna wieku rozwojowego.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

E. Obersztyn, J. Majewski, J. Wierzba, 2014, American journal of medical genetics. Part A.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

P. Stankiewicz, C. Shaw, E. Obersztyn, 2013, Journal of Applied Genetics.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

P. Stankiewicz, S. Cheung, E. Obersztyn, 2011, Genetics in Medicine.

Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features

Z. Ou, P. Stankiewicz, S. Cheung, 2008, American journal of medical genetics. Part A.

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders

E. Obersztyn, R. Płoski, K. Chrzanowska, 2018, Journal of Medical Genetics.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, European Journal of Human Genetics.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

E. Obersztyn, R. Płoski, A. Barczyk, 2021, Genes.

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

P. Stankiewicz, S. Cheung, E. Obersztyn, 2007, American journal of medical genetics. Part A.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

[Clinical expression of triploidy].

E. Obersztyn, A. Kutkowska-Kaźmierczak, K. Jakubów-Durska, 2002, Medycyna wieku rozwojowego.

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

E. Obersztyn, B. Zabel, K. Szczałuba, 2005, American journal of medical genetics. Part A.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

E. Obersztyn, B. Wiśniowiecka-Kowalnik, M. Smyk, 2022, Genes.

Different‐sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

P. Stankiewicz, S. Cheung, E. Obersztyn, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

A. Latos-Bieleńska, E. Obersztyn, A. Wawrocka, 2021, American journal of medical genetics. Part A.

Autistic features with speech delay in a girl with an ∼1.5‐Mb deletion in 6q16.1, including GPR63 and FUT9

P. Stankiewicz, E. Obersztyn, K. Derwinska, 2009, Clinical genetics.

Expanding the phenotype associated with missense mutations of the ARX gene

E. Obersztyn, A. Charzewska, D. Hoffman-Zacharska, 2013, American journal of medical genetics. Part A.

Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient

E. Obersztyn, H. Mierzewska, E. Szczepanik, 2010, Brain and Development.

Case report Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient

E. Obersztyn, H. Mierzewska, E. Szczepanik, 2010 .

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene

E. Obersztyn, R. Płoski, W. Wiszniewski, 2021, Genes.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting

E. Obersztyn, A. Charzewska, D. Hoffman-Zacharska, 2015, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

E. Obersztyn, B. Schmidt-Sidor, H. Mierzewska, 2008, Folia neuropathologica.

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

E. Obersztyn, R. Płoski, M. Rydzanicz, 2018, Journal of Medical Genetics.

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

E. Obersztyn, W. Wiszniewski, J. Bal, 2001, Genetic testing.

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

E. Obersztyn, K. Szamotulska, T. Mazurczak, 1996, American journal of medical genetics.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

E. Obersztyn, D. Hoffman-Zacharska, A. Kutkowska-Kaźmierczak, 2019, Journal of Epileptology.

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, Neurologia i neurochirurgia polska.

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

P. Stankiewicz, S. Cheung, W. Cai, 2010, Journal of Applied Genetics.

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

A. Latos-Bieleńska, E. Obersztyn, A. Wawrocka, 2020, American journal of medical genetics. Part A.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

G. Rubboli, Manuela Pendziwiat, R. Møller, 2021, Frontiers in Genetics.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Malocclusions and craniofacial anomalies in a child with velo-cardio-facial syndrome.

E. Obersztyn, T. Matthews‑Brzozowska, D. Cudziło, 2015, Developmental period medicine.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

E. Obersztyn, R. Śmigiel, D. Patkowski, 2015, Journal of Applied Genetics.

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

E. Obersztyn, A. Barczyk, B. Wiśniowiecka-Kowalnik, 2021, Genes.

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

E. Obersztyn, D. Halley, T. Mazurczak, 1996, Acta biochimica Polonica.

Pontine tegmental cap dysplasia

E. Obersztyn, E. Jurkiewicz, M. Bekiesińska-Figatowska, 2010, Neurology.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

E. Obersztyn, R. Płoski, M. Rydzanicz, 2017, Clinical genetics.

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

A. Latos-Bieleńska, E. Obersztyn, J. Pilch, 2021, Journal of Applied Genetics.

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

E. Bongers, A. Latos-Bieleńska, E. Obersztyn, 2022, Frontiers in Genetics.

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

Justyna A. Karolak, P. Stankiewicz, E. Obersztyn, 2023, Genes.

[Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities].

E. Obersztyn, A. Kutkowska-Kaźmierczak, J. Leibschang, 2006, Ginekologia Polska.

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

E. Obersztyn, M. Jędrzejowska, A. Jamsheer, 2021, Orphanet Journal of Rare Diseases.

The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 Gene

E. Obersztyn, M. Jędrzejowska, A. Jamsheer, 2021 .

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR].

E. Obersztyn, M. Gos, J. Bal, 2009, Medycyna wieku rozwojowego.

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

E. Obersztyn, W. Wiszniewski, M. Dawidziuk, 2023, Journal of Applied Genetics.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

E. Obersztyn, K. Chrzanowska, H. Mierzewska, 2012, Journal of Applied Genetics.

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

E. Obersztyn, I. Hausmanowa-Petrusewicz, M. Jędrzejowska, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

P. Stankiewicz, E. Obersztyn, A. Kutkowska-Kaźmierczak, 2004, Medical science monitor : international medical journal of experimental and clinical research.

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

E. Obersztyn, U. Demkow, M. Radkowski, 2014, BioMed research international.