Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Anne Laure Todeschini"'
Autor:
Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo, Dirk G de Rooij, Laura Gómez-H, Rodrigo Garcia-Valiente, Anne Laure Todeschini, Paloma Duque, Manuel Adolfo Sánchez-Martin, Stavit A Shalev, Elena Llano, Reiner A Veitia, Alberto M Pendás
Publikováno v:
eLife, Vol 9 (2020)
Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essent
Externí odkaz:
https://doaj.org/article/26db10f852a84974ae97f713af8a613d
Autor:
Adrien Georges, David L'Hôte, Anne Laure Todeschini, Aurélie Auguste, Bérangère Legois, Alain Zider, Reiner A Veitia
Publikováno v:
eLife, Vol 3 (2014)
FOXL2 is a lineage determining transcription factor in the ovary, but its direct targets and modes of action are not fully characterized. In this study, we explore the targets of FOXL2 and five nuclear receptors in murine primary follicular cells. We
Externí odkaz:
https://doaj.org/article/dd45f11294ee49e2a492f9ff1cab2512
Autor:
Hager barakizou, Gannouni Souha, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne-laure Todeschini, Reiner Veitia, Malcolm Donaldson
Publikováno v:
JCRPE, Vol 14, Iss 1, Pp 107-113 (2022)
Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A
Externí odkaz:
https://doaj.org/article/4316d518cba84646ad07adaa5729732a
Autor:
Reiner A. Veitia, Alberto M. Pendas, Xose S. Puente, Aurora Astudillo, Sara López-Tamargo, Manuel Sanchez-Martin, Yazmine B. Condezo, María D. Corte-Torres, Natalia Felipe-Medina, Anne Laure Todeschini, Elena Llano
Suppl table 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c209dd67f77f7495efd63ea5fc32c3d
https://doi.org/10.1158/0008-5472.22433439.v1
https://doi.org/10.1158/0008-5472.22433439.v1
Autor:
Reiner A. Veitia, Alberto M. Pendas, Xose S. Puente, Aurora Astudillo, Sara López-Tamargo, Manuel Sanchez-Martin, Yazmine B. Condezo, María D. Corte-Torres, Natalia Felipe-Medina, Anne Laure Todeschini, Elena Llano
Adult-type granulosa cell tumors (AGCT) are the most common type of malignant ovarian sex cord–stromal tumors. Most AGCTs carry the somatic variant c.402C>G (p.C134W) affecting the transcription factor FOXL2. Germline dominant variants in FOXL2 are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500a8e805757cb45c07b3291094ac5c5
https://doi.org/10.1158/0008-5472.c.6514368.v1
https://doi.org/10.1158/0008-5472.c.6514368.v1
Autor:
Reiner A. Veitia, Alberto M. Pendas, Xose S. Puente, Aurora Astudillo, Sara López-Tamargo, Manuel Sanchez-Martin, Yazmine B. Condezo, María D. Corte-Torres, Natalia Felipe-Medina, Anne Laure Todeschini, Elena Llano
supplementary figures S1-S4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49037aa1dd222782080b53e3a3d8444
https://doi.org/10.1158/0008-5472.22433445
https://doi.org/10.1158/0008-5472.22433445
Autor:
Elena Llano, Anne Laure Todeschini, Natalia Felipe-Medina, María D. Corte-Torres, Yazmine B. Condezo, Manuel Sanchez-Martin, Sara López-Tamargo, Aurora Astudillo, Xose S. Puente, Alberto M. Pendas, Reiner A. Veitia
Publikováno v:
Cancer research.
Adult-type granulosa cell tumors (AGCT) are the most common type of malignant ovarian sex cord–stromal tumors. Most AGCTs carry the somatic variant c.402C>G (p.C134W) affecting the transcription factor FOXL2. Germline dominant variants in FOXL2 are
Autor:
Jessica A. Pilsworth, Mikko Anttonen, Dawn R. Cochrane, Samantha J. Neilson, Reiner A. Veitia, Markku Heikinheimo, David G. Huntsman, Anne-Laure Todeschini, Daniel Lai
Publikováno v:
The Journal of Pathology. 255:225-231
A recurrent mutation in FOXL2 (c.402C>G; p.C134W) is present in over 95% of adult-type granulosa cell tumours (AGCTs). In contrast, various loss-of-function mutations in FOXL2 lead to the development of blepharophimosis, ptosis, and epicanthus invers
Publikováno v:
EMBO J
The EMBO Journal
The EMBO Journal
[Image: see text]
Autor:
Hager Barakizou, Gannouni Souha, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne-laure Todeschini, Reiner Veitia, Malcolm Donaldson
Publikováno v:
Journal of clinical research in pediatric endocrinology. 14(1)
Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A