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Smaragda Kamakari

20

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

2020 Genetics in Medicine
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

2018 EBioMedicine
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X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

2014 Hormones (Greece)
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Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population.

2012 Oncology Reports
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Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

2011 World Journal of Surgical Oncology
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Identification of a novel mutation of MEN1 gene in a patient with persisting primary hyperparathyroidism

2010
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A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease

2009 Case Reports
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Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases

2009 British Journal of Cancer
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Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1

2009 Clinical Endocrinology
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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

2008 Breast Cancer Research and Treatment
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Citations (34)