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List of works by Marianthi Georgitsi

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.

scientific article

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study

scientific article published on 4 August 2010

FINDbase: a worldwide database for genetic variation allele frequencies updated

scientific article

First Report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic Population ⬇️

scientific article published on January 1, 2011

Genetic variation in CARD8, a gene coding for an NLRP3 inflammasome-associated protein, alters the genetic risk for diabetic nephropathy in the context of type 2 diabetes mellitus

scientific article published on 01 November 2020

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

scientific article published on 22 May 2007

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

scientific article

KLF10gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

article

Large genomic deletions in AIP in pituitary adenoma predisposition.

scientific article published on 15 July 2008

Lithium-induced differential expression of SAT1 in suicide completers and controls is not correlated with polymorphisms in the promoter region of the gene

scientific article

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27Kip1 and p18INK4C) mutations ⬇️

scientific article published on June 1, 2010

Meta-Analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder Provides Support for a Shared Genetic Basis

scientific article

Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression

scientific article

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

scholarly article

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

scientific article

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers

scientific article published in January 2007

No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

article

Pituitary adenoma predisposition caused by germline mutations in the AIP gene

scientific article published in May 2006

Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey

scientific article

Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase

article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

scientific article

The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery

scientific article published on 03 August 2016

Transcriptional Regulation and Pharmacogenomics ⬇️

scientific article published on May 1, 2011

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