P. Gaildrat

发表

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Jean-Philippe Vert, Etienne Rouleau, Sophie Krieger, 2012, Human mutation.

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies

A. Fabre, L. Faivre, H. Sobol, 2016, Annals of Hematology.

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

T. Frebourg, S. Baert-Desurmont, Mohamad Hamieh, 2016, PLoS genetics.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

T. Frebourg, B. Knebelmann, Abdellah Tebani, 2017, Molecular genetics & genomic medicine.

Night/Day Changes in Pineal Expression of >600 Genes

Michael J. Bailey, R. Baler, P. Munson, 2009, Journal of Biological Chemistry.

Evolution of AANAT: expansion of the gene family in the cephalochordate amphioxus

E. Koonin, M. Omelchenko, D. Klein, 2010, BMC Evolutionary Biology.

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

G. Capellá, A. Laner, U. Koehler, 2022, European Journal of Human Genetics.

Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations

T. Frebourg, F. Coulet, P. Gaildrat, 2022, Journal of Medical Genetics.

EXPRESSION OF MELATONIN RECEPTORS IN THE PITUITARY OF A TELEOST FISH AND 2-( 125 I)IODOMELATONIN BINDING SITES

P. Gaildrat, C. Umr, J. Falcón, 2000 .

Expression of melatonin receptors and 2-[125I]iodomelatonin binding sites in the pituitary of a teleost fish.

P. Gaildrat, J. Falcón, 1999, Advances in experimental medicine and biology.

Genomic variations integrated database for MUTYH-associated adenomatous polyposis

C. Béroud, A. Fabre, S. Pinson, 2014, Journal of Medical Genetics.

Melatonin Receptors in the Pituitary of a Teleost Fish: mRNA Expression, 2-[125I]Iodomelatonin Binding and Cyclic AMP Response

P. Gaildrat, J. Falcón, 2000, Neuroendocrinology.

Daily and Circadian Variations in 2‐[125I]‐Iodomelatonin Binding Sites in the Pike Brain (Esox Iucius)

P. Gaildrat, J. Falcón, B. Ron, 1998, Journal of neuroendocrinology.

Neural Adrenergic/Cyclic AMP Regulation of the Immunoglobulin E Receptor α-Subunit Expression in the Mammalian Pinealocyte

D. Klein, S. Ganguly, D. Sugden, 2007, Journal of Biological Chemistry.

14‐3‐3 Proteins in Pineal Photoneuroendocrine Transduction: How Many Roles?

F. Dyda, T. Obsil, D. Klein, 2003, Journal of neuroendocrinology.

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

T. Frebourg, S. Baert-Desurmont, Mohamad Hamieh, 2016, PLoS genetics.

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

F. Révillion, D. Stoppa-Lyonnet, C. Houdayer, 2020, Cancer Research.

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

Etienne Rouleau, Dominique Vaur, Sophie Krieger, 2012, Journal of Medical Genetics.

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

C. Houdayer, T. Frebourg, Baptiste Brault, 2017, European Journal of Human Genetics.

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Dominique Vaur, Sophie Krieger, Marie-Pierre Buisine, 2011, European Journal of Human Genetics.

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Margherita Berardi, A. Spurdle, M. Genuardi, 2017, Human mutation.

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

F. Révillion, D. Stoppa-Lyonnet, C. Houdayer, 2020, Cancer Research.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

A. Spurdle, C. Houdayer, D. Vidaud, 2022, Human mutation.

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015, Human mutation.

Melatonin modulates secretion of growth hormone and prolactin by trout pituitary glands and cells in culture.

G. Boeuf, P. Gaildrat, J. Falcón, 2003, Endocrinology.

Regulation of Pituitary Cells

P. Gaildrat, J. Falcón, 2000 .

First cloning and functional characterization of a melatonin receptor in fish brain: a novel one?

P. Gaildrat, F. Becq, J. Falcón, 2002, Journal of pineal research.

Pineal function: Impact of microarray analysis

Michael J. Bailey, P. Munson, D. Klein, 2010, Molecular and Cellular Endocrinology.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

A. Spurdle, N. Sevenet, C. Houdayer, 2019, BMC Genomics.

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

T. Frebourg, M. Tosi, P. Gaildrat, 2013, Human mutation.

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

T. Frebourg, P. Berthet, S. Krieger, 2010, Journal of Medical Genetics.

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

T. Frebourg, I. Tournier, M. Tosi, 2010, Methods in molecular biology.

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism

T. Frebourg, C. Bellanné-Chantelot, S. Shyng, 2021, Human mutation.

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

T. Frebourg, C. Charbonnier, P. Gaildrat, 2020, Human mutation.

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

D. Campion, D. Hannequin, D. Wallon, 2018, Journal of Alzheimer's disease : JAD.

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Qing Wang, Christophe Béroud, Anthony Ferrari, 2013, Database J. Biol. Databases Curation.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

G.P.12 Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

F. Puppo, I. Nishino, M. Bartoli, 2014, Neuromuscular Disorders.

A Novel Pineal-specific Product of the Oligopeptide Transporter PepT1 Gene

V. Ganapathy, D. Klein, D. Carter, 2005, Journal of Biological Chemistry.

Developmental and diurnal dynamics of Pax4 expression in the mammalian pineal gland: nocturnal down-regulation is mediated by adrenergic-cyclic adenosine 3',5'-monophosphate signaling.

Michael J. Bailey, D. Klein, S. Coon, 2009, Endocrinology.

Daily rhythm in pineal phosphodiesterase (PDE) activity reflects adrenergic/3',5'-cyclic adenosine 5'-monophosphate induction of the PDE4B2 variant.

Michael J. Bailey, D. Klein, A. Ho, 2007, Endocrinology.

Variations in cyclic adenosine 3′,5′-monophosphate and cyclic guanosine 3′,5′-monophosphate content and efflux from the photosensitive pineal organ of the pike in culture

P. Gaildrat, J. Falcón, 1996, Pflügers Archiv.

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

D. Birnbaum, R. Lidereau, S. Olschwang, 2010, Journal of Medical Genetics.

Identification of variants in the 4 q 35 gene FAT 1 in patients with a Facioscapulohumeral dystrophy ( FSHD )-like phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015 .

Melatonin Modulates Secretion of Growth Hormone and Prolactin by Trout Pituitary Glands and Cells in Culture

G. Boeuf, P. Gaildrat, J. Falcón, 2003 .

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

T. Frebourg, I. Tournier, M. Tosi, 2010, Methods in molecular biology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.