Publications by authors named "Smaragda Kamakari"

18Publications

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Jul 20;22(7):1235-1246. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF
July 2020

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel mutations.

Am J Ophthalmol Case Rep 2018 Jun 28;10:172-179. Epub 2018 Feb 28.

UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

View Article and Find Full Text PDF
June 2018

Absence of hotspot mutations in exons 9 and 20 of the PIK3CA gene in human oral squamous cell carcinoma in the Greek population.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010 May;109(5):e53-8

Department of Oral and Maxillofacial Surgery, Evagelismos Hospital, Dental School, University of Athens, Athens, Greece.

View Article and Find Full Text PDF
May 2010

A novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease.

BMJ Case Rep 2009 19;2009. Epub 2009 Aug 19.

Endocrine Unit, Second Department of Internal Medicne-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, Attikon University Hospital, 1 Rimini Street, Athens, Greece.

View Article and Find Full Text PDF
November 2011

Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.

Eur J Endocrinol 2008 Dec 19;159(6):767-71. Epub 2008 Sep 19.

Endocrine Unit, Athens University Medical School, Research Institute and Diabetes Center, Attikon University Hospital, 1 Rimini Street, 12462 Athens, Greece.

View Article and Find Full Text PDF
December 2008

Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1.

Clin Endocrinol (Oxf) 2009 Jan 12;70(1):75-81. Epub 2008 Jun 12.

Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, Attikon University Hospital, Athens, Greece.

View Article and Find Full Text PDF
January 2009

Donor-derived breast cancer in a bone marrow transplantation recipient.

Breast Cancer Res Treat 2009 Jan 9;113(2):211-3. Epub 2008 Feb 9.

Department of Medical Oncology, Ioannina University Hospital, Niarchou Avenue, 45500, Ioannina, Greece.

View Article and Find Full Text PDF
January 2009

Structural analysis and expression profile of a novel gene on chromosome 5q23 encoding a Golgi-associated protein with six splice variants, and involved within the 5q deletion of a Ph(-) CML patient.

Leuk Res 2005 Jan;29(1):17-31

Institute of Molecular Biology and Biotechnology, University of Crete School of Medicine, FORTH, Vassilika Vouton, P.O. Box 1527, 71 110 Heraklion, Greece.

View Article and Find Full Text PDF
January 2005