Anna Latos-Bieleńska

Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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June 2020

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

Birth Defects Res 2020 05 22;112(9):688-698. Epub 2020 Apr 22.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands.

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May 2020

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

Authors:

Joanna Walczak-Sztulpa Renata Posmyk Ewelina M Bukowska-Olech Anna Wawrocka Aleksander Jamsheer Machteld M Oud Miriam Schmidts Heleen H Arts Anna Latos-Bielenska Anna Wasilewska

Orphanet J Rare Dis 2020 02 1;15(1):36. Epub 2020 Feb 1.

Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok, Poland.

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February 2020

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.

Authors:

Marlene Sinclair Julie Em McCullough David Elliott Anna Latos-Bielenska Paula Braz Clara Cavero-Carbonell Anna Jamry-Dziurla Ana João Santos Lucía Páramo-Rodríguez

J Med Internet Res 2019 11 25;21(11):e15847. Epub 2019 Nov 25.

Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.

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November 2019

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

Authors:

Anna Pietrzak Magdalena Badura-Stronka Tiia Kangas-Kontio Paulina Felczak Wojciech Kozubski Anna Latos-Bielenska Teresa Wierzba-Bobrowicz Jolanta Florczak-Wyspianska

Folia Neuropathol 2019 ;57(3):285-294

Chair and Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.

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February 2020

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

Pediatr Res 2020 02 9;87(3):541-549. Epub 2019 Sep 9.

University of Groningen, University Medical Center Groningen, Department of Genetics, EUROCAT Northern Netherlands, Groningen, The Netherlands.

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February 2020

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

Authors:

Ewa Hordyjewska-Kowalczyk Anna Sowińska-Seidler Ewelina M Olech Magdalena Socha Renata Glazar Anna Kruczek Anna Latos-Bieleńska Przemko Tylzanowski Aleksander Jamsheer

Clin Genet 2019 11 31;96(5):429-438. Epub 2019 Jul 31.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.

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November 2019

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

Authors:

Ewelina M Olech Karolina Matuszewska Michał Piechota Anna Latos-Bieleńska Aleksander Jamsheer

Clin Dysmorphol 2019 Jul;28(3):154-156

Department of Medical Genetics, University of Medical Sciences in Poznan.

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July 2019

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

Authors:

Miguel Verbitsky Rik Westland Alejandra Perez Krzysztof Kiryluk Qingxue Liu Priya Krithivasan Adele Mitrotti David A Fasel Ekaterina Batourina Matthew G Sampson Monica Bodria Max Werth Charlly Kao Jeremiah Martino Valentina P Capone Asaf Vivante Shirlee Shril Byum Hee Kil Maddalena Marasa Jun Y Zhang Young-Ji Na Tze Y Lim Dina Ahram Patricia L Weng Erin L Heinzen Alba Carrea Giorgio Piaggio Loreto Gesualdo Valeria Manca Giuseppe Masnata Maddalena Gigante Daniele Cusi Claudia Izzi Francesco Scolari Joanna A E van Wijk Marijan Saraga Domenico Santoro Giovanni Conti Pasquale Zamboli Hope White Dorota Drozdz Katarzyna Zachwieja Monika Miklaszewska Marcin Tkaczyk Daria Tomczyk Anna Krakowska Przemyslaw Sikora Tomasz Jarmoliński Maria K Borszewska-Kornacka Robert Pawluch Maria Szczepanska Piotr Adamczyk Malgorzata Mizerska-Wasiak Grazyna Krzemien Agnieszka Szmigielska Marcin Zaniew Mark G Dobson John M Darlow Prem Puri David E Barton Susan L Furth Bradley A Warady Zoran Gucev Vladimir J Lozanovski Velibor Tasic Isabella Pisani Landino Allegri Lida M Rodas Josep M Campistol Cécile Jeanpierre Shumyle Alam Pasquale Casale Craig S Wong Fangming Lin Débora M Miranda Eduardo A Oliveira Ana Cristina Simoes-E-Silva Jonathan M Barasch Brynn Levy Nan Wu Friedhelm Hildebrandt Gian Marco Ghiggeri Anna Latos-Bielenska Anna Materna-Kiryluk Feng Zhang Hakon Hakonarson Virginia E Papaioannou Cathy L Mendelsohn Ali G Gharavi Simone Sanna-Cherchi

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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April 2019

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

Authors:

Miguel Verbitsky Rik Westland Alejandra Perez Krzysztof Kiryluk Qingxue Liu Priya Krithivasan Adele Mitrotti David A Fasel Ekaterina Batourina Matthew G Sampson Monica Bodria Max Werth Charlly Kao Jeremiah Martino Valentina P Capone Asaf Vivante Shirlee Shril Byum Hee Kil Maddalena Marasà Jun Y Zhang Young-Ji Na Tze Y Lim Dina Ahram Patricia L Weng Erin L Heinzen Alba Carrea Giorgio Piaggio Loreto Gesualdo Valeria Manca Giuseppe Masnata Maddalena Gigante Daniele Cusi Claudia Izzi Francesco Scolari Joanna A E van Wijk Marijan Saraga Domenico Santoro Giovanni Conti Pasquale Zamboli Hope White Dorota Drozdz Katarzyna Zachwieja Monika Miklaszewska Marcin Tkaczyk Daria Tomczyk Anna Krakowska Przemyslaw Sikora Tomasz Jarmoliński Maria K Borszewska-Kornacka Robert Pawluch Maria Szczepanska Piotr Adamczyk Malgorzata Mizerska-Wasiak Grazyna Krzemien Agnieszka Szmigielska Marcin Zaniew Mark G Dobson John M Darlow Prem Puri David E Barton Susan L Furth Bradley A Warady Zoran Gucev Vladimir J Lozanovski Velibor Tasic Isabella Pisani Landino Allegri Lida M Rodas Josep M Campistol Cécile Jeanpierre Shumyle Alam Pasquale Casale Craig S Wong Fangming Lin Débora M Miranda Eduardo A Oliveira Ana Cristina Simões-E-Silva Jonathan M Barasch Brynn Levy Nan Wu Friedhelm Hildebrandt Gian Marco Ghiggeri Anna Latos-Bielenska Anna Materna-Kiryluk Feng Zhang Hakon Hakonarson Virginia E Papaioannou Cathy L Mendelsohn Ali G Gharavi Simone Sanna-Cherchi

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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January 2019

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

Authors:

Ingeborg Barisic Ljubica Boban Diana Akhmedzhanova Jorieke E H Bergman Clara Cavero-Carbonell Ieva Grinfelde Anna Materna-Kiryluk Anna Latos-Bieleńska Hanitra Randrianaivo Natalya Zymak-Zakutnya Ivona Sansovic Monica Lanzoni Joan K Morris

Eur J Med Genet 2018 Sep 31;61(9):499-507. Epub 2018 May 31.

Queen Mary University of London, UK.

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September 2018

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

Authors:

Karolina E Matuszewska Magdalena Badura-Stronka Robert Śmigiel Magdalena Cabała Anna Biernacka Joanna Kosinska Malgorzata Rydzanicz Anna Winczewska-Wiktor Maria Sasiadek Anna Latos-Bieleńska Tomasz Żemojtel Rafal Płoski

Clin Dysmorphol 2018 Apr;27(2):49-52

Department of Medical Genetics.

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April 2018

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

Authors:

Simone Sanna-Cherchi Kamal Khan Rik Westland Priya Krithivasan Lorraine Fievet Hila Milo Rasouly Iuliana Ionita-Laza Valentina P Capone David A Fasel Krzysztof Kiryluk Sitharthan Kamalakaran Monica Bodria Edgar A Otto Matthew G Sampson Christopher E Gillies Virginia Vega-Warner Katarina Vukojevic Igor Pediaditakis Gabriel S Makar Adele Mitrotti Miguel Verbitsky Jeremiah Martino Qingxue Liu Young-Ji Na Vinicio Goj Gianluigi Ardissino Maddalena Gigante Loreto Gesualdo Magdalena Janezcko Marcin Zaniew Cathy Lee Mendelsohn Shirlee Shril Friedhelm Hildebrandt Joanna A E van Wijk Adela Arapovic Marijan Saraga Landino Allegri Claudia Izzi Francesco Scolari Velibor Tasic Gian Marco Ghiggeri Anna Latos-Bielenska Anna Materna-Kiryluk Shrikant Mane David B Goldstein Richard P Lifton Nicholas Katsanis Erica E Davis Ali G Gharavi

Am J Hum Genet 2017 12;101(6):1034

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December 2017

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

Authors:

Joanna Walczak-Sztulpa Anna Wawrocka Anna Swiader-Lesniak Magdalena Socha Aleksander Jamsheer Dorota Drozdz Anna Latos-Bielenska Katarzyna Zachwieja

Birth Defects Res 2018 03 14;110(4):376-381. Epub 2017 Nov 14.

Department of Pediatric Nephrology and Hypertension, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Poland.

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March 2018

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

Authors:

Simone Sanna-Cherchi Kamal Khan Rik Westland Priya Krithivasan Lorraine Fievet Hila Milo Rasouly Iuliana Ionita-Laza Valentina P Capone David A Fasel Krzysztof Kiryluk Sitharthan Kamalakaran Monica Bodria Edgar A Otto Matthew G Sampson Christopher E Gillies Virginia Vega-Warner Katarina Vukojevic Igor Pediaditakis Gabriel S Makar Adele Mitrotti Miguel Verbitsky Jeremiah Martino Qingxue Liu Young-Ji Na Vinicio Goj Gianluigi Ardissino Maddalena Gigante Loreto Gesualdo Magdalena Janezcko Marcin Zaniew Cathy Lee Mendelsohn Shirlee Shril Friedhelm Hildebrandt Joanna A E van Wijk Adela Arapovic Marijan Saraga Landino Allegri Claudia Izzi Francesco Scolari Velibor Tasic Gian Marco Ghiggeri Anna Latos-Bielenska Anna Materna-Kiryluk Shrikant Mane David B Goldstein Richard P Lifton Nicholas Katsanis Erica E Davis Ali G Gharavi

Am J Hum Genet 2017 Nov;101(5):789-802

Division of Nephrology, Columbia University, New York, NY 10032, USA.

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November 2017

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

Paediatr Perinat Epidemiol 2017 11 25;31(6):549-559. Epub 2017 Aug 25.

Institute of Nursing and Health Research, Ulster University, Newtownabbey, UK.

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November 2017

Publications by authors named "Anna Latos-Bieleńska"

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