A. D'Elia

发表

Frequency of Factor V, Prothrombin and Methylenetetrahydrofolate Reductase Gene Variants in Preeclampsia

F. Petraglia, G. Damante, D. Fabbro, 2002, Gynecologic and Obstetric Investigation.

Conservation across species identifies several transcriptional enhancers in the HEX genomic region

Nadia Passon, Elisa Bregant, G. Damante, 2009, Molecular and Cellular Biochemistry.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

A. Viel, M. Fornasarig, M. Quaia, 2019, Molecular genetics & genomic medicine.

Redox Effector Factor-1 Regulates the Activity of Thyroid Transcription Factor 1 by Controlling the Redox State of the N Transcriptional Activation Domain*

G. Tell, I. Paron, G. Damante, 2002, The Journal of Biological Chemistry.

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

A. Proclemer, G. Nucifora, N. Finato, 2020, European journal of medical genetics.

Thyroid Transcription Factor‐1 Regulates Feeding Behavior via Melanocortin Pathway in the Hypothalamus

Eun Sook Kim, B. Lee, S. Kang, 2011, Diabetes.

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

G. Damante, A. Villa, P. Vezzoni, 2011, Bone.

Tumor necrosis factor-alpha gene polymorphism in severe and mild-moderate rheumatoid arthritis.

G. Damante, G. Ferraccioli, E. Di Poi, 2002, The Journal of rheumatology.

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

G. Damante, G. Romeo, L. Mazzanti, 2007, American journal of medical genetics. Part A.

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

A. Ballestrero, I. Stanganelli, P. Queirolo, 2022, ESMO open.

Introduction – What Is Aniridia: Epidemiology, Clinical Features and Genetic Implications

G. Damante, A. D'Elia, 2015 .

APE/Ref-1 is Controlled by Both Redox and cAMP-Dependent Mechanisms in Rat Thyroid Cells

G. Tell, C. di Loreto, D. Russo, 2002, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Thyroid Transcription Factor-1 Facilitates Cerebrospinal Fluid Formation by Regulating Aquaporin-1 Synthesis in the Brain*

B. Lee, S. Ojeda, G. Damante, 2007, Journal of Biological Chemistry.

TTF-1, a Homeodomain-containing Transcription Factor, Participates in the Control of Body Fluid Homeostasis by Regulating Angiotensinogen Gene Transcription in the Rat Subfornical Organ*

M. Costa, B. Lee, S. Ojeda, 2003, Journal of Biological Chemistry.

A proteomic approach to identify early molecular targets of oxidative stress in human epithelial lens cells.

Angela D'Elia, Andrea Scaloni, Giuseppe Damante, 2004, The Biochemical journal.

A deletion 3' to the PAX6 gene in familial aniridia cases.

G. Damante, D. Fabbro, P. Grammatico, 2007, Molecular vision.

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

M. Mezzavilla, A. Viel, R. Maestro, 2016, BMC Medical Genetics.

Molecular analysis of a human PAX6 homeobox mutant

G. Tell, F. Fogolari, Elisa Bregant, 2006, European Journal of Human Genetics.

Functional interaction among thyroid-specific transcription factors: Pax8 regulates the activity of Hex promoter

G. Tell, S. Filetti, F. Arturi, 2004, Molecular and Cellular Endocrinology.

Expression and function of the homeodomain-containing protein Hex in thyroid cells

Angela D'Elia, Guidalberto Manfioletti, Lucia Pellizzari, 2000, Nucleic Acids Res..

Plasminogen activator inhibitor-1 gene polymorphisms in pre-eclampsia.

G. Damante, D. Fabbro, G. Barillari, 2011, Seminars in thrombosis and hemostasis.

Characterization of ANGPT2 mutations associated with primary lymphedema

K. Alitalo, M. Vikkula, P. Saharinen, 2020, Science Translational Medicine.

Effects of histone acetylation on sodium iodide symporter promoter and expression of thyroid-specific transcription factors.

G. Tell, S. Filetti, D. Russo, 2005, Endocrinology.

Expression and localization of the homeodomain-containing protein HEX in human thyroid tumors.

G. Tell, F. Puglisi, C. di Loreto, 2002, The Journal of clinical endocrinology and metabolism.

Missense mutations of human homeoboxes: A review

G. Tell, I. Paron, G. Damante, 2001, Human mutation.

A CGH array procedure to detect PAX6 gene structural defects.

G. Damante, C. Puppin, S. Penco, 2017, Molecular and cellular probes.

Italian Association of Clinical Endocrinologists (AME) position statement: a stepwise clinical approach to the diagnosis of gastroenteropancreatic neuroendocrine neoplasms

E. Papini, M. Davi’, A. Faggiano, 2014, Journal of Endocrinological Investigation.

TTF-1 regulates growth hormone and prolactin transcription in the anterior pituitary gland.

C. Ha, B. Lee, Jeong Woo Park, 2007, Biochemical and biophysical research communications.

A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma

S. Filetti, D. Russo, F. Fogolari, 2013, Clinical endocrinology.

Association between Plasminogen Activator Inhibitor 1 Gene Polymorphisms and Preeclampsia

R. Spizzo, C. di Loreto, G. Damante, 2003, Gynecologic and Obstetric Investigation.

Thyroid-specific transcription factors control Hex promoter activity.

S. Filetti, F. Arturi, D. Russo, 2003, Nucleic acids research.

Regulation of Pituitary Adenylate Cyclase-activating Polypeptide Gene Transcription by TTF-1, a Homeodomain-containing Transcription Factor*

B. Lee, G. Damante, S. Chun, 2002, The Journal of Biological Chemistry.

A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient.

G. Cuda, B. Quaresima, F. Baudi, 2003, Cancer letters.

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

F. Fogolari, G. Damante, M. Iascone, 2020, Molecular genetics & genomic medicine.

Dinucleotide polymorphisms present in the 5'-flanking region of the human H2 relaxin gene, but not in the corresponding region of the H1 gene.

G. Damante, L. Driul, D. Marchesoni, 2003, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Nadia Passon, Elisa Bregant, L. Allegri, 2024, Journal of human genetics.

Thyroid Transcription Factor‐1 Regulates Feeding Behavior via Melanocortin Pathway in the Hypothalamus

Jae Geun Kim, Jeong-Woo Park, C. H. Yun, 2011, Diabetes.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

A. Viel, M. Fornasarig, M. Quaia, 2019, Molecular genetics & genomic medicine.