Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Eloïse Giabicani"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundA diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at least four criteria of the Netchine-Harbison clinical scoring system (NH-CSS). Ce
Externí odkaz:
https://doaj.org/article/58f23c08809e4255902c7634001592ee
Autor:
Eloïse Giabicani, Aurélie Pham, Céline Sélénou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnès Linglart, Anne Poliard, Catherine Chaussain, Irène Netchine
Publikováno v:
International Journal of Oral Science, Vol 14, Iss 1, Pp 1-8 (2022)
Abstract Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting diseases are characterized by growth and metabolic issues starting from birth to adulthood. They a
Externí odkaz:
https://doaj.org/article/9a988a1be4c44aa7ba3015d2d49b8cff
Publikováno v:
Cells, Vol 11, Iss 12, p 1886 (2022)
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2) knockout mouse models, we have learnt much about the structure of this protein, its role and regulation. Indeed, many animal and human studies involv
Externí odkaz:
https://doaj.org/article/a746b99110ee4c9eb8d95958d314f495
Autor:
Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of insulin-like growth factor 2 (IGF2), as reported in Beckwith-Wiedemann syndrome, and a 15q term
Externí odkaz:
https://doaj.org/article/90c82a8e25934b0eacab6d906a29c214
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120588 (2015)
BACKGROUND:It is difficult to determine whether to treat a given girl who has idiopathic central precocious puberty (CPP) with gonadotropin-releasing hormone analog (GnRHa) in terms of adult height (AH). The objective was to provide an easy tool for
Externí odkaz:
https://doaj.org/article/aa13bba544c64ddfb6644fa884d33b6e
Autor:
Eloïse Giabicani, Slimane Allali, Adélaïde Durand, Julie Sommet, Ana-Claudia Couto-Silva, Raja Brauner
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e70931 (2013)
BACKGROUND:Despite the number of reported data concerning idiopathic central precocious puberty (CPP) in girls, major questions remain including its diagnosis, factors, and indications of gonadotropin releasing hormone (GnRH) analog treatment. METHOD
Externí odkaz:
https://doaj.org/article/5a60d8e4ba064b888f35f9258f1d65f1
Autor:
Oluwakemi Lokulo‐Sodipe, Eloïse Giabicani, Ana P. M. Canton, Nawfel Ferrand, Jenny Child, Emma L. Wakeling, Gerhard Binder, Irène Netchine, Deborah J. G. Mackay, Hazel M. Inskip, Christopher D. Byrne, I. Karen Temple, Justin H. Davies
Publikováno v:
Clinical Endocrinology. 97:284-292
Objective: Silver–Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb965c3086daca5b81578e1d824a1c7
https://doi.org/10.1111/cen.14715
https://doi.org/10.1111/cen.14715
Autor:
Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with i
Externí odkaz:
https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5
Autor:
Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude
Publikováno v:
Journal of medical genetics. 57(3)
The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying anDNA was tested for either deletions or single nucleotide variant (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606
https://pubmed.ncbi.nlm.nih.gov/31586944
https://pubmed.ncbi.nlm.nih.gov/31586944
Publikováno v:
Current Opinion in Pediatrics
Current Opinion in Pediatrics, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
Current Opinion in Pediatrics, Lippincott, Williams & Wilkins, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
Current Opinion in Pediatrics, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
Current Opinion in Pediatrics, Lippincott, Williams & Wilkins, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS).Various teams have described the clinical characteristics of SRS patients by genot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e963805d493e3a287c54f9ea20a9eb29
https://hal.science/hal-02006402
https://hal.science/hal-02006402
