Search filters

List of works by Anna Materna-Kiryluk

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

scientific article published on 10 December 2009

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

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

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

scientific article published in January 2016

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

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

scientific article

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

scientific article published in March 2011

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

scientific article published on 12 July 2019

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

scientific article

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

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

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

scientific article

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

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

scientific article

Hirschsprung's disease prevalence in Europe: a register based study

scientific article

Insulin analogues use in pregnancy among women with pregestational diabetes mellitus and risk of congenital anomaly: a retrospective population-based cohort study

scientific article published on 24 February 2018

Maternal reproductive history and the risk of isolated congenital malformations.

scientific article published on 12 January 2011

Mutations in DSTYK and dominant urinary tract malformations

scientific article

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

scientific article published on 19 April 2010

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

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

scientific article published on 01 January 2005

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

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

scientific article published on 28 April 2022

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

scientific article published on 23 February 2014

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

scientific article published on 11 November 2020

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

Trends in diagnosis and prevalence of critical congenital heart defects in the Podkarpacie province in 2002-2004, based on data from the Polish Registry of Congenital Malformations

scientific article

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

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

scientific article published on 5 December 2017

Paulina is supported by:

About Paulina

Help