Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maria Enrica Martini-Neri"'
Autor:
Giovanni Neri, Barbara Bardoni, Marcella Zollino, Nicola Garcea, Pietro Chiurazzi, Giovanna Floridia, Maurizio Genuardi, Maria Enrica Martini-Neri, Gioacchino Scarano
Publikováno v:
Europe PubMed Central
The nature of a non-mosaic marker Y chromosome observed in a pseudohermaphrodite patient with Leydig cell agenesis was investigated by high-resolution chromosome analysis and molecular probes from the Y chromosome. Cytogenetically, the marker chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff1f8f8af797d4f27a96e91ad5c4c48
https://doi.org/10.1111/j.1399-0004.1995.tb03919.x
https://doi.org/10.1111/j.1399-0004.1995.tb03919.x
Autor:
Giuseppe Coppola, Maurizio Genuardi, Danila Sollima, Maria Enrica Martini-Neri, Giovanni Neri, Fiorella Petronzelli
The CDKN2A locus encodes two tumor suppressor proteins, p16(ink4) and p14(arf), through use of alternative first exons. CDKN2A mutations detected in melanoma families are usually missense or nonsense changes which mainly impair p16(ink4) function. La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b44671b8b693d324b599730b0dff78b
https://hdl.handle.net/10807/219895
https://hdl.handle.net/10807/219895
Autor:
Giovanni Neri, Pierpaolo Mastroiacovo, Giuseppe Zampino, Marcella Zollino, Giuseppe Segni, Maria Enrica Martini-Neri, Roberta Ricci
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2bd42857c6c3cffb94ba9ff5ee2cdb
http://hdl.handle.net/10807/36994
http://hdl.handle.net/10807/36994
Publikováno v:
American Journal of Medical Genetics. 19:195-207
We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12daf2a346ab367a982dfd84f631861
https://doi.org/10.1002/ajmg.1320190120
https://doi.org/10.1002/ajmg.1320190120
Publikováno v:
American journal of medical genetics. 25(4)
Introduction The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1215933398382e0300a1200d570b30c
https://pubmed.ncbi.nlm.nih.gov/3024486
https://pubmed.ncbi.nlm.nih.gov/3024486
Publikováno v:
American journal of medical genetics. Part A. (11)
The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b8d5d6c67cfe0aa8175c1c1d0662e06
https://pubmed.ncbi.nlm.nih.gov/24166810
https://pubmed.ncbi.nlm.nih.gov/24166810