Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Silvia Copelli"'
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〉
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
https://hal.archives-ouvertes.fr/hal-00172192
Publikováno v:
Pediatric endocrinology reviews : PER. 1(3)
In mammals, the choice between male or female development is genetically determined. Sex determination takes place when the embryonic gonad becomes either a testis or an ovary. This process is directed by genes that have been discovered by genetic an
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
Autor:
Silvia Copelli, Graciela Del Rey, Pablo Lapunzina, Marc Fellous, César Bergadá, Ignacio Bergadá
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(6)
The IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), meta
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
Autor:
Claudia Casco, Silvia Vanzulli, Alfredo H Speroni, Alejandra Gimenez, Carla Mazzeo, Horacio W Rubio, Silvia Copelli, Roberto Meiss
Publikováno v:
ResearcherID
Mutations in exons 4-8 of the p53 gene by the PCR-SSCP analysis in preneoplastic and neoplastic lesions of the colon (n=11) and esophagus (n=18) were screened. p53 overexpression by immunohistochemistry in 11 colonic lesions and 13 microsatellites, i
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
Autor:
Héctor E. Chemes, Ch Sultan, J J Heinrich, S Gottlieb, M E Escobar, Silvia Copelli, Serge Lumbroso, C Bergadá, N Poujol
Publikováno v:
Pediatric Research. 45:440-440
Molecular Analysis of the Androgen Receptor Gene in Patients with Complete and Partial Androgen Insensibility Syndrome
Publikováno v:
Pediatric Research. 43:297-297
Publikováno v:
Pediatric Research. 32:250-250
Sex chromosome numerical and structural alterations not alweys can be detectable or evaluated by cytogenetic means. The aim was to study the sex chromosomes with X-Y DNa probes by Southern blot and SRY gene (sex region of Y chromosome) by PCR (polyme