Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita

Autor: Paul Laissue, Silvia Copelli, Marc Fellous, Gabriel Barrio, César Bergadá, Sinan Karaboga, Jean Marie Wurtz, Reiner A. Veitia, Ignacio Bergadá, Enzo Lalli

Publikováno v: Clinical Endocrinology
Clinical Endocrinology, Wiley, 2006, 65 (5), pp.681-6. ⟨10.1111/j.1365-2265.2006.02649.x⟩
Clinical Endocrinology, Wiley, 2006, 65 (5), pp.681-6. 〈10.1111/j.1365-2265.2006.02649.x〉

OBJECTIVE: Mutations in DAX-1, an X-linked gene encoding an orphan nuclear receptor, have been associated with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Here we describe two novel DAX-1 mutations, Y214X and I361T, associated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8b4c47f07ab759505811d499fe1ec2
https://hal.archives-ouvertes.fr/hal-00172192

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction

Autor: Elfride, De Baere, Silvia, Copelli, Sandrine, Caburet, Paul, Laissue, Diane, Beysen, Sophie, Christin-Maitre, Philippe, Bouchard, Reiner, Veitia, Marc, Fellous

Publikováno v: Pediatric endocrinology reviews : PER. 2(4)

Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated. This syndromic form of premature ovarian failure (POF) is caused b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::869ad423b92d34073ebcd39bb91455f8
https://pubmed.ncbi.nlm.nih.gov/16208278

Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

Autor: Graciela Del Rey, Roberto Coco, Silvia Copelli, J J Heinrich

Publikováno v: American Journal of Medical Genetics. 55:77-79

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumfe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5daee56647d521cc33a0c30da84c6b3e
https://doi.org/10.1002/ajmg.1320550120

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism

Autor: María Gabriela Ropelato, Luz Andreone, Stella Campo, Patricia Bedecarrás, Rodolfo Rey, Ignacio Bergadá, Paul Laissue, Silvia Copelli

Publikováno v: Clinical Endocrinology. :070907134102005

Summary Objective X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have been recognized. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f339b8c41b19f8f2a6c4680348e01ce
https://doi.org/10.1111/j.1365-2265.2007.03026.x

Diagnosis of G-Protein Gene Mutations in Mc Cune-Albright Syndrome. 15

Autor: M Gryngarten, Horacio M. Domené, M E Escobar, G Sanso, Silvia Copelli

Publikováno v: Pediatric Research. 43:297-297

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a04053412800303508726209d99e423d
https://doi.org/10.1203/00006450-199802000-00038