Publications by authors named "Bernarda Lozic"

20Publications

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

PHACES Syndrome with Intestinal Hemangiomatosis.

Acta Dermatovenerol Croat 2019 Dec;27(4):265-269

Professor Vjekoslav Krželj, MD, PhD, University of Split, School of Medicine , Department of Health Studies, Ruđera Boškovića 35, 21000 Split, Croatia;

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December 2019

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

J Pediatr Endocrinol Metab 2018 Jan;31(1):71-75

Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1515/jpem-2017-0302DOI Listing
January 2018

Dietary Factors Associated with Plasma Thyroid Peroxidase and Thyroglobulin Antibodies.

Nutrients 2017 Oct 28;9(11). Epub 2017 Oct 28.

Department of Medical Biology, School of Medicine Split, University of Split, Šoltanska 2, 21000 Split, Croatia.

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http://dx.doi.org/10.3390/nu9111186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707658PMC
October 2017

Novel variant: altered respiratory and circadian rhythm, anesthetic sensitivity.

Ann Clin Transl Neurol 2016 11 11;3(11):876-883. Epub 2016 Oct 11.

Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.

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http://doi.wiley.com/10.1002/acn3.362
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http://dx.doi.org/10.1002/acn3.362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099533PMC
November 2016

Soft Tissue B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Burkitt's Lymphoma Diagnosed by Fine Needle Aspiration Cytology.

Acta Cytol 2015 29;59(4):355-7. Epub 2015 Aug 29.

Department of Pathology, Forensic Medicine and Cytology, Clinical Hospital Center Split, Split, Croatia.

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http://dx.doi.org/10.1159/000438816DOI Listing
January 2016

Aggressive middle turbinate osteoblastoma with intracranial extension: a case report.

J Med Case Rep 2014 May 23;8:161. Epub 2014 May 23.

Department of Othorinolaryngology, University Hospital Split, Spinčićeva 1, 21000 Split, Croatia.

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http://dx.doi.org/10.1186/1752-1947-8-161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096441PMC
May 2014

Complete trisomy 10p resulting from an extra stable telocentric chromosome.

Am J Med Genet A 2012 Jul 24;158A(7):1778-81. Epub 2012 May 24.

Department of Pediatrics, University Hospital Split, Split, Croatia.

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http://dx.doi.org/10.1002/ajmg.a.35384DOI Listing
July 2012

Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction.

Med Sci Monit 2011 Oct;17(10):CS116-9

Clinical Hospital Split, Pediatrics Clinic, Department of Medical Genetics with Laboratory for Human Genetics and Genetic Counseling Unit, Split, Croatia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539472PMC
http://dx.doi.org/10.12659/msm.881969DOI Listing
October 2011

Analysis of the C609T polymorphism of NQO1 gene in South Croatian patients with hematological malignancies.

Coll Antropol 2011 Jun;35(2):385-8

University of Split, Split University Hospital Center, Department of Pediatrics, Split, Croatia.

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June 2011

West syndrome with periventricular leukomalacia: ten-year clinical study.

Coll Antropol 2008 Jan;32 Suppl 1:105-11

Pediatrics Clinic, University Hospital Split, School of Medicine, University of Split, Croatia.

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January 2008