Alpha 2.0
Login Register
» Authors » Lina Florentin

Lina Florentin

Explore the profile of Lina Florentin including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 69
Followers 0
Related Specialties
Oncology
Genetics
Pediatrics
Top 10 Co-Authors
Thomas Liehr
Vassilios Papadakis
Sophia Polychronopoulou
Voula Velissariou
Chrysanthi Bili
Despina Apostolopoulou
Isabel M Carreira
Angela Apessos
Marianna Tzanoudaki
George Nasioulas
Published In
Anticancer Res
Prenat Diagn
Eur J Hum Genet
Am J Med Genet A
Cytogenet Genome Res
Affiliations
Soon will be listed here.
Recent Articles
1.
Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the Gene and Review of the Literature on Associated Extrarenal Manifestations
Antoniadi M, Lambrou D, Mylona F, Florentin L, Bili C, Stefanidis C, et al.
J Pediatr Genet . 2024 Nov; 13(4):335-344. PMID: 39502851
Distal renal tubular acidosis (dRTA) is an extremely rare disease that affects the distal tubule's ability to excrete proton cations, acidify urine, and maintain the acid-base balance. The clinical presentation...
2.
The Prognostic Effect of CDKN2A/2B Gene Deletions in Pediatric Acute Lymphoblastic Leukemia (ALL): Independent Prognostic Significance in BFM-Based Protocols
Ampatzidou M, Papadhimitriou S, Paisiou A, Paterakis G, Tzanoudaki M, Papadakis V, et al.
Diagnostics (Basel) . 2023 May; 13(9). PMID: 37174980
One of the most frequent genes affected in pediatric ALL is the CDKN2A/2B gene, acting as a secondary cooperating event and playing an important role in cell-cycle regulation and chemosensitivity....
3.
Genetic Predisposition to Male Breast Cancer: A Case Series
Apessos A, Agiannitopoulos K, Pepe G, Tsaousis G, Pitta P, Bili C, et al.
Anticancer Res . 2022 Dec; 42(12):5795-5801. PMID: 36456130
Background/aim: Male breast cancer (MBC) is a very rare disorder affecting approximately 1 in 833 men. Genetic predisposition is one of the most important risk factors of MBC with BRCA2...
4.
Familial Aggregation of a Novel Missense Variant of Gene Associated with Short Extremities: Case Report and Review of the Literature
Christopoulos P, Eleftheriades A, Paltoglou G, Paschalidou E, Kalampokas E, Florentin L, et al.
Children (Basel) . 2022 Aug; 9(8). PMID: 36010119
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her...
5.
Copy Number Alteration Profile Provides Additional Prognostic Value for Acute Lymphoblastic Leukemia Patients Treated on BFM Protocols
Ampatzidou M, Florentin L, Papadakis V, Paterakis G, Tzanoudaki M, Bouzarelou D, et al.
Cancers (Basel) . 2021 Jul; 13(13). PMID: 34209196
We present our data of a novel proposed CNA-profile risk-index, applied on a Greek ALLIC-BFM-treated cohort, aiming at further refining genomic risk-stratification. Eighty-five of 227 consecutively treated ALL patients were...
6.
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14
Velissariou V, Sachinidi F, Christopoulou S, Florentin L, Liehr T, Efthymiadou A, et al.
Cytogenet Genome Res . 2020 Nov; 160(11-12):664-670. PMID: 33202412
Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for...
7.
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
Liehr T, Carreira I, Balogh Z, Dominguez Garrido E, Verdorfer I, Coviello D, et al.
Eur J Hum Genet . 2019 Mar; 27(8):1168-1174. PMID: 30923334
Specialists of human genetic diagnostics can be divided into four groups: Medical Geneticists (MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical Laboratory Geneticists (CLG) and Laboratory Genetics Technicians (LGT). While the...
8.
Uveal Melanoma: and Mutations in a Greek Population
Psinakis F, Katseli A, Koutsandrea C, Frangia K, Florentin L, Apostolopoulou D, et al.
Anticancer Res . 2017 Oct; 37(10):5719-5726. PMID: 28982892
Background/aim: Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years,...
9.
European registration process for Clinical Laboratory Geneticists in genetic healthcare
Liehr T, Carreira I, Aktas D, Bakker E, de Alba M, Coviello D, et al.
Eur J Hum Genet . 2017 Mar; 25(5):515-519. PMID: 28272535
Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the...
10.
The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population
Vlassi M, Gazouli M, Paltoglou G, Christopoulos P, Florentin L, Kassi G, et al.
Hormones (Athens) . 2012 Mar; 11(1):70-6. PMID: 22450346
Objective: To investigate the association between Gestational Diabetes Mellitus (GDM) and the variants rs10830963 and rs1387153 in the MTNR1B locus in a sample of the Greek population. Design: One hundred...