L. Florentin

发表

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

D. Yannoukakos, G. Fountzilas, E. Efstathiou, 2000 .

European registration process for Clinical Laboratory Geneticists in genetic healthcare

T. Liehr, E. Bakker, H. Scheffer, 2017, European Journal of Human Genetics.

Copy Number Alteration Profile Provides Additional Prognostic Value for Acute Lymphoblastic Leukemia Patients Treated on BFM Protocols

M. Tzanoudaki, V. Papadakis, S. Polychronopoulou, 2021, Cancers.

Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature

P. Christopoulos, M. Eleftheriades, G. Paltoglou, 2022, Children.

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

T. Liehr, H. Scheffer, Martina Rinčić, 2019, European Journal of Human Genetics.

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14

T. Liehr, A. Efthymiadou, D. Chrysis, 2020, Cytogenetic and Genome Research.

Variable transfer of Y-specific sequences in XX males

N. A. Affara, L. Florentin, K. Kwok, 2022 .

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

A. Mavrou, K. Kekou, L. Florentin, 1995, Journal of medical genetics.

Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer.

D. Yannoukakos, T. Ozcelik, I. Yulug, 2004, Anticancer research.

Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

A. Apessos, A. Divane, L. Florentin, 2002, Prenatal diagnosis.

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

A. Konstantinidou, S. Sifakis, V. Velissariou, 2011, American journal of medical genetics. Part A.

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

A. Mavrou, K. Kekou, L. Florentin, 1995, Human Genetics.

NASOPHARYNGEAL CARCINOMA IN CHILDHOOD AND ADOLESCENCE: A Single Institution's Experience with Treatment Modalities During the Last 15 Years

K. Stefanaki, G. Christopoulos, V. Papadakis, 2004, Pediatric hematology and oncology.

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

S. Youroukos, A. Mavrou, H. Skouteli, 1999, European Journal of Human Genetics.

3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype

K. Kekou, L. Florentin, C. Metaxotou, 1998, Human mutation.

Latin American Registry of Pediatric Renal Transplantation 2004–2008

J. Agustí, M. Sebastian, M. Abbud-Filho, 2010, Pediatric Transplantation.

Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences

N. A. Affara, L. Florentin, N. Morrison, 1986, Nucleic Acids Res..

Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies

P. Hrabac, N. Barišić, T. Babić, 1998, Clinical chemistry and laboratory medicine.

Oxidative stress and membrane fluidity in erythrocytes from patients with hemolytic uremic syndrome.

C. Poole, H. Farach, A. Hager, 1997, Acta physiologica, pharmacologica et therapeutica latinoamericana : organo de la Asociacion Latinoamericana de Ciencias Fisiologicas y [de] la Asociacion Latinoamericana de Farmacologia.

The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

M. Gazouli, P. Christopoulos, G. Mastorakos, 2012, Hormones.

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

T. Liehr, H. Scheffer, Martina Rinčić, 2019, European Journal of Human Genetics.

The Prognostic Effect of CDKN2A/2B Gene Deletions in Pediatric Acute Lymphoblastic Leukemia (ALL): Independent Prognostic Significance in BFM-Based Protocols

M. Tzanoudaki, V. Papadakis, S. Polychronopoulou, 2023, Diagnostics.

Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations

C. Stefanidis, S. Kostaridou, L. Florentin, 2021, Journal of Pediatric Genetics.

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

A. Konstantinidou, S. Sifakis, V. Velissariou, 2011, American journal of medical genetics. Part A.

Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

C. Sismani, P. Patsalis, G. Koumbaris, 2008, Prenatal diagnosis.