List of works by Anna Latos-Bieleńska

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

scientific article

A familial X/Y translocation: cytogenetic and molecular study.

scientific article published on January 2001

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

scientific article

A new case of DOOR syndrome.

scientific article published in January 2008

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability

scientific article published on January 2009

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

scientific article

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

scientific article

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

scientific article published on 01 February 2001

A novel form of ischio-vertebral syndrome

scientific article

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

scientific article published on 10 December 2009

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

scientific article published on 01 July 2010

Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background.

scientific article

An additional case of 9p syndrome

scientific article published on 01 January 1983

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content

scientific article

Analysis of Phenotype and Karyotype of Children Born From Mothers With 45,X/46,XX Mosaicism

scientific article

Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

scientific article published on 10 April 2013

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

scientific article published on 31 May 2018

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

scientific article

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

scientific article published on 23 June 2021

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

scientific article published on 26 April 2016

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

scientific article published on 12 May 2017

Chondrosarcoma of the small pelvis imitating an ovarian tumor

scientific article published on 01 October 1996

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

article

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

scientific article published on 14 November 2017

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome

scientific article published on 01 January 2019

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

scientific article published on 12 May 2021

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

scientific article published in January 2016

Collagens, the basic proteins of the human body

scientific article published on 01 January 2000

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

scientific article published on March 2009

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

scientific article published on 01 February 2020

Copy-number disorders are a common cause of congenital kidney malformations

scientific article

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

scientific article

DNA damage induced by lithotripter generated shock waves: short report

scientific article published on 01 January 2001

Demonstration of replication patterns in the last premeiotic S-phase of male Chinese hamsters after BrdU pulse labeling

scientific article published on 01 March 1992

Detection of BrdUrd incorporation in mammalian chromosomes by a BrdUrd antibody. III. Demonstration of replication patterns in highly resolved chromosomes

scientific article published in July 1987

Diagnosis and differential diagnosis of Noonan syndrome in a 13-year-old girl

scientific article

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

Do chromosomal abnormalities reappear in subsequent pregnancies and how often?

scientific article published on 01 September 2010

EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies

scientific article published on 28 June 2021

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

scientific article published on 28 June 2016

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations

scientific article (publication date: October 2016)

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

scientific article published on 19 November 2014

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

scientific article

Erratum: Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

scholarly article published in Nature Genetics

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

scientific article

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

scientific article published on 3 April 2014

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

scientific article published on 31 March 2016

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in November 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in December 2017

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

scientific article

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study

scientific article published on 25 November 2019

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study (Preprint)

scientific article published on 14 August 2019

Fraser Syndrome: Epidemiological Study in a European Population

article

Frequency and distribution of chiasmata in Syrian hamster spermatocytes studied by the BrdU antibody technique ⬇️

scientific article published on 01 August 1990

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

scientific article

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

scientific article published on 31 July 2019

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

scientific article published on 25 August 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

scientific article published on 25 September 2020

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

article

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM).

scientific article

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

scientific article published on 5 September 2014

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

scientific article published on 21 May 2020

Higher resolution banding techniques in the clinical routine

scientific article published on 01 May 1988

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

scientific article published on 23 October 2014

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

scientific article published in 2022

Idiopathic infertility in married couples in the light of cytogenetic analysis and sperm penetration assay

scientific article published in January 2001

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome

scientific article

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

scientific article published on 23 March 2017

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

scientific article

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

scientific article published on 6 April 2016

Long term trends in prevalence of neural tube defects in Europe: population based study

scientific article

Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

article by Joan K. Morris et al published 24 September 2014 in American Journal of Medical Genetics

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

scientific article published on 22 April 2020

Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors

scientific article published on 01 January 2007

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome ⬇️

scientific article published on December 1, 1991

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

scientific article

Mutations in DSTYK and dominant urinary tract malformations

scientific article

Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.

scientific article

NANOS3 gene mutations in men with isolated sterility phenotype

scientific article published on 01 September 2009

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

scientific article published on 25 March 2022

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

scientific article published on 01 September 2005

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

scientific article published on 19 April 2010

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

scientific article published on 16 March 2015

Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma

scientific article

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family

scientific article

Pachydermoperiostosis-critical analysis with report of five unusual cases

scientific article published on 7 February 2007

Paper 6: EUROCAT member registries: organization and activities

scientific article published on 04 March 2011

Parental age as a risk factor for isolated congenital malformations in a Polish population.

scientific article published on January 2009

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome

scientific article published on 01 July 2019

Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year

scientific article published on 01 January 2005

Polymorphisms of the human PUMILIO2 gene and male sterility

scientific article

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

scientific article published on 17 August 2020

Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies

scientific article published on 01 January 1998

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

scientific article

Preventing neural tube defects in Europe: a missed opportunity

scientific article published on September 2005

Recent decrease in the prevalence of congenital heart defects in Europe

scientific article published on 24 July 2012

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

scientific article published on 16 February 2022

Refinement of localization of the human genes for myeloperoxidase (MPO), protein kinase C, alpha polypeptide, PRKCA, and the DNA fragment D17S21 on chromosome 17q

scientific article published on 01 January 1991

Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20

scientific article published in June 2013

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland

scientific article published on 23 February 2014

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

scientific article published on 09 September 2019

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

scientific article

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps

scientific article

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

scientific article published on 01 January 2015

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

scientific article

The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction

scientific article

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

scientific article published on 6 February 2014

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

scientific article

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

scientific article

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study

scientific article published on 15 November 2021

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study (Preprint)

scientific article published on 8 November 2020

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

scientific article

Visualization of DNA in pachytene by monoclonal antibodies against BrdU reveals synaptonemal complex-like structures ⬇️

scientific article published on 01 January 1990

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

[Chromosomal aberrations--the cause of spontaneous abortions]

scientific article published on 01 May 2015

[Frequency of chromosomal aberrations in material from abortions]

scientific article published on 01 December 2010

[Genetically determined retinoblastoma]

scientific article published on 01 November 1993

[Importance of cytogenetic analysis in patients with azoospermia or severe oligozoospermia undergoing in vitro fertilization]

scientific article published on 01 November 2001

[Marshall syndrome--case report]

scientific article published on 01 January 1995

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]

scientific article published on 01 January 2001

[Role of genetic factors in the etiology of cancer of the large intestine]

scientific article

[Study of TIGR gene in patients with primary open angle glaucoma]

scientific article published on 01 January 2004

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