Anna Latos-Bielenska

Anna Latos-Bielenska

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Anna Latos-Bielenska

Anna Latos-Bielenska

Publications by authors named "Anna Latos-Bielenska"

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

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

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

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http://dx.doi.org/10.1097/MCD.0000000000000276DOI Listing
July 2019

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

Nat Genet 2019 04;51(4):764

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

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

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

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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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

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

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

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

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http://dx.doi.org/10.5114/fn.2019.88459DOI Listing
January 2019

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

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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http://dx.doi.org/10.1002/bdr2.1151DOI Listing
March 2018

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

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

Neurology 2016 05 6;86(18):1716-25. Epub 2016 Apr 6.

From Ulster University (H.D., M.L.), Northern Ireland, UK; University of Groningen (H.W., L.T.W.d.J.-v.d.B.), the Netherlands; Barts and the London School of Medicine and Dentistry (J.M.), UK; Hospital Lillebaelt (E.G.), Kolding, Denmark; Registre Vaudois des Malformations (M.-C.A.), Lausanne, Switzerland; Public Health Division of Gipuzkoa (L.A.), Instituto BIO-Donostia, Basque Government, CIBER Epidemiología y Salud Pública-CIBERESP, Madrid, Spain; University Medical Centre Groningen (M.B.), the Netherlands; Children's University Hospital Zagreb (I.B.), Croatia; Registre des Malformations Congenitales D'Alsace (B.D.), University of Strasbourg, France; Department of Health Information and Research (M.G.), Malta; Swedish National Board of Health and Welfare (K. Kallen), Stockholm, Sweden; Institut National de la Sante et de la Recherche Medicale (B.K.), INSERM, Villejuif, France; Medical Birth Registry of Norway (K. Klungsoyr), Oslo; National Institute for Health & Welfare (A.-M.L.-K.), Helsinki, Finland; Poznan University of Medical Sciences (A.L.-B., J.P.M.), Poland; Provinciaal Instituut voor Hygiene (V.N.), Antwerp, Belgium; Center for Clinical and Epidemiological Research Ferrara (A.N.), Italy; Health Service Executive (M.O.), Kildare, Ireland; Institute of Clinical Physiology-National Research Council (IFC-CNR) (A.P.), Pisa, Italy; Otto-von-Guericke University Magdeburg (A.R.), Germany; Public Health Wales NHS Trust (D.T.), Congenital Anomaly Register and Information Service for Wales; Wessex Clinical Genetics Service (D.W.), Princess Anne Hospital, UK; and University Medical Center of Mainz Birth Registry Mainz Model (A.W.), Germany.

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http://www.neurology.org/content/86/18/1716.full.pdf
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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854591PMC
May 2016

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

Ann Agric Environ Med 2015 ;22(1):110-7

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

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http://dx.doi.org/10.5604/12321966.1141379DOI Listing
December 2015

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

Birth Defects Res A Clin Mol Teratol 2015 Jun 16;103(6):567-72. Epub 2015 Mar 16.

Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia.

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http://doi.wiley.com/10.1002/bdra.23354
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http://dx.doi.org/10.1002/bdra.23354DOI Listing
June 2015

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

Int J Environ Health Res 2014 23;24(6):567-79. Epub 2014 Feb 23.

a Department of Medical Genetics , Karol Marcinkowski University of Medical Sciences in Poznan , Poznan , Poland.

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http://dx.doi.org/10.1080/09603123.2014.883593DOI Listing
April 2015

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

Birth Defects Res A Clin Mol Teratol 2014 Oct 5;100(10):764-71. Epub 2014 Sep 5.

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

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http://dx.doi.org/10.1002/bdra.23298DOI Listing
October 2014

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

J Appl Genet 2014 May 15;55(2):183-8. Epub 2014 Feb 15.

Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland,

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http://dx.doi.org/10.1007/s13353-014-0195-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990859PMC
May 2014

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

Gene 2014 Apr 6;539(1):157-61. Epub 2014 Feb 6.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1016/j.gene.2014.01.066DOI Listing
April 2014

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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http://dx.doi.org/10.1056/NEJMoa1214479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846391PMC
August 2013

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

BMC Med Genet 2012 Jan 10;13. Epub 2012 Jan 10.

Department of Medical Genetics, University of Medical Sciences in Poznan, Poland, ul. Grunwaldzka 55 paw. 15, 60-352 Poznan, Poland.

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http://dx.doi.org/10.1186/1471-2350-13-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278352PMC
January 2012

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S241-8. Epub 2010 Jun 16.

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-736 Warsaw, Poland.

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http://dx.doi.org/10.1007/s10545-010-9132-4DOI Listing
December 2010

[Frequency of chromosomal aberrations in material from abortions].

Ginekol Pol 2010 Dec;81(12):896-901

Klinika Rozrodczości Uniwersytetu Medycznego w Poznaniu.

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December 2010

[Do chromosomal abnormalities reappear in subsequent pregnancies and how often?].

Ginekol Pol 2010 Sep;81(9):681-6

Klinika Rozrodczości, UM w Poznaniu.

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September 2010

A new case of DOOR syndrome.

J Appl Genet 2008 ;49(1):101-3

Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznań, Poland.

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http://dx.doi.org/10.1007/BF03195254DOI Listing
July 2008

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

Nat Genet 2008 Jun 25;40(6):789-93. Epub 2008 May 25.

Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1038/ng.153DOI Listing
June 2008

Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors.

Pol J Pathol 2007 ;58(3):167-71

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

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January 2008

Pachydermoperiostosis-critical analysis with report of five unusual cases.

Eur J Pediatr 2007 Dec 7;166(12):1237-43. Epub 2007 Feb 7.

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

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http://dx.doi.org/10.1007/s00431-006-0407-6DOI Listing
December 2007

A novel form of ischio-vertebral syndrome.

Skeletal Radiol 2007 Jan 18;36(1):77-81. Epub 2006 Mar 18.

Department of Orthopaedics, Hopital des Enfants Malades, Tunis, Tunesie.

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http://dx.doi.org/10.1007/s00256-005-0073-1DOI Listing
January 2007

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

Klin Oczna 2004 ;106(4-5):564-8

Z Katedry i Zakładu Genetyki Medycznej Akademii Medycznej w Poznaniu.

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May 2005

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

J Appl Genet 2004 ;45(2):275-9

Chair and Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznań, Poland.

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June 2004