Anna Latos-Bieleńska
Anna Latos-Bieleńska
Professor of Human Genetics, Head of the Department of Medical Genetics, Poznan University of
Verified email at ump.edu.pl
Title
Cited by
Cited by
Year
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
M Loane, JK Morris, MC Addor, L Arriola, J Budd, B Doray, E Garne, ...
European Journal of Human Genetics, 2012
3632012
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
S Uppal, CP Diggle, IM Carr, CW Fishwick, M Ahmed, GH Ibrahim, ...
Nature Genetics 40, 789-793, 2008
2762008
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
S Annunen, J Körkkö, M Czarny, ML Warman, HG Brunner, H Kääriäinen, ...
The American Journal of Human Genetics 65 (4), 974-983, 1999
2461999
Long term trends in prevalence of neural tube defects in Europe: population based study
B Khoshnood, M Loane, H De Walle, L Arriola, MC Addor, I Barisic, ...
Bmj 351, 2015
2282015
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
2172016
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
MR McGivern, KE Best, J Rankin, D Wellesley, R Greenlees, MC Addor, ...
Archives of Disease in Childhood-Fetal and Neonatal Edition 100 (2), F137-F144, 2015
2032015
Copy-number disorders are a common cause of congenital kidney malformations
S Sanna-Cherchi, K Kiryluk, KE Burgess, M Bodria, MG Sampson, ...
The American Journal of Human Genetics 91 (6), 987-997, 2012
1902012
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity
M Czarny-Ratajczak, J Lohiniva, P Rogala, K Kozlowski, M Perälä, ...
The American Journal of Human Genetics 69 (5), 969-980, 2001
1902001
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ...
The American Journal of Human Genetics 86 (6), 949-956, 2010
1872010
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
B Budny, W Chen, H Omran, M Fliegauf, A Tzschach, M Wisniewska, ...
Human genetics 120 (2), 171-178, 2006
1752006
Preventing neural tube defects in Europe: a missed opportunity
A Busby, L Abramsky, H Dolk, B Armstrong, MC Addor, G Anneren, ...
Reprod Toxicol 20, 393-402, 2006
1712006
Paper 6: EUROCAT member registries: Organization and activities
R Greenlees, A Neville, MC Addor, E Amar, L Arriola, M Bakker, I Barisic, ...
Birth Defects Research Part A: Clinical and Molecular Teratology 91 (S1 …, 2011
1442011
Mutations in DSTYK and Dominant Urinary Tract Malformations
S Sanna-Cherchi, RV Sampogna, N Papeta, KE Burgess, SN Nees, ...
New England Journal of Medicine 369 (7), 621-629, 2013
1202013
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe
I Barisic, L Odak, M Loane, E Garne, D Wellesley, E Calzolari, H Dolk, ...
European Journal of Human Genetics 22 (8), 1026-1033, 2014
1052014
Estimating global burden of disease due to congenital anomaly: an analysis of European data
B Boyle, MC Addor, L Arriola, I Barisic, F Bianchi, M Csáky-Szunyogh, ...
Archives of Disease in Childhood-Fetal and Neonatal Edition 103 (1), F22-F28, 2018
1042018
Aggressive Fibromatosis (Desmoid Tumors): Definition, Occurrence, Pathology, Diagnostic Problems, Clinical Behavior, Genetic Background
T Ferenc, J Sygut, J Kopczyñski, M Mayer, A Latos-Bieleñska, A Dziki, ...
Pol J Pathol 57 (1), 5-15, 2006
1042006
Parental age as a risk factor for isolated congenital malformations in a Polish population
A Materna‐Kiryluk, K Wiśniewska, M Badura‐Stronka, J Mejnartowicz, ...
Paediatric and perinatal epidemiology 23 (1), 29-40, 2009
1022009
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ...
Nature genetics 51 (1), 117-127, 2019
872019
Genetic drivers of kidney defects in the DiGeorge syndrome
E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ...
New England Journal of Medicine 376 (8), 742-754, 2017
872017
Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry‐based study in 14 E uropean countries 1984–2007
B Boyle, R McConkey, E Garne, M Loane, MC Addor, MK Bakker, ...
BJOG: An International Journal of Obstetrics & Gynaecology 120 (6), 707-716, 2013
822013
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