Lina Florentin

Genetic Analysis (Norway) — Norway

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index265citations24works0.02yr avg
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Research Topics

BRCA gene mutations in cancer(4), Prenatal Screening and Diagnostics(4), Genomic variations and chromosomal abnormalities(4), Muscle Physiology and Disorders(3), Acute Myeloid Leukemia Research(2)

Publications24 total

Urothelial Carcinoma With a Novel MET Exon 14 Skipping Alteration
Cancer Diagnosis & Prognosis·2026Open Access
First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for Holt-Oram Syndrome
Hellenic Journal of Obstetrics and Gynecology·2025
Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations
Journal of Pediatric Genetics·2023Open Access
The Prognostic Effect of CDKN2A/2B Gene Deletions in Pediatric Acute Lymphoblastic Leukemia (ALL): Independent Prognostic Significance in BFM-Based Protocols
Diagnostics·2023· 16 citedOpen Access
Genetic Predisposition to Male Breast Cancer: A Case Series
Anticancer Research·2022· 2 cited
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature
Children·2022Open Access
Copy Number Alteration Profile Provides Additional Prognostic Value for Acute Lymphoblastic Leukemia Patients Treated on BFM Protocols
Cancers·2021· 11 citedOpen Access
First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for hereditary angioedema
Hellenic Journal of Obstetrics and Gynecology·2021Open Access
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14
Cytogenetic and Genome Research·2020· 4 cited
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
European Journal of Human Genetics·2019· 14 citedOpen Access
Uveal Melanoma: GNAQ and GNA11 Mutations in a Greek Population
Anticancer Research·2017· 7 cited
European registration process for Clinical Laboratory Geneticists in genetic healthcare
European Journal of Human Genetics·2017· 15 citedOpen Access
The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population
HORMONES·2012· 40 cited
<i>FGFR3</i> related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases
American Journal of Medical Genetics Part A·2011· 24 cited
Erratum: Prenatal diagnosis of a <i>de novo</i> partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH
Prenatal Diagnosis·2010Open Access
Prenatal diagnosis of a <i>de novo</i> partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH
Prenatal Diagnosis·2008· 3 cited
NASOPHARYNGEAL CARCINOMA IN CHILDHOOD AND ADOLESCENCE: A Single Institution's Experience with Treatment Modalities During the Last 15 Years
Pediatric Hematology and Oncology·2004· 14 cited
Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR
Prenatal Diagnosis·2002· 59 cited
BRCA1 mutation analysis in breast/ovarian cancer families from Greece
Human Mutation·2000· 35 cited
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients
European Journal of Human Genetics·1999· 8 citedOpen Access
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Frequent Co-authors

Voula Velissariou(4), Vassilios Papadakis(3), Sophia Polychronopoulou(3), Thomas Liehr(3), Kiriaki Kekou(3), Catherine Metaxotou(3), Chrysanthi Bili(3), Chrysanthy Bili(2), Angela Apessos(2), George Paltoglou(2), George Fountzilas(2), Despina Apostolopoulou(2), Dimitra Bouzarelou(2), Μirella Αmpatzidou(2), Stefanos I. Papadhimitriou(2), Georgios Paterakis(2), Marianna Tzanoudaki(2), Isabel M. Carreira(2), Domenico Coviello(2), Hans Scheffer(2)