Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Giorgio Filippi"'
Publikováno v:
Ground-based and Airborne Telescopes IX.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5aa48f275fd5d820f960c83d4c6a359
https://doi.org/10.1117/12.2629056
https://doi.org/10.1117/12.2629056
Autor:
Gaizka Murga, Alexander Díaz, Rubén Sanquirce, Santiago Royo, Carles Pizarro, Maialen González, Elena Lara, Borja Vega, Noel Rodrigo, Pau Santos, Andreas Förster, Sebastian Schmid, Samuel Lévêque, Philippe Gitton, Giorgio Filippi
The ELT M1 Local Coherencer is a non-contact metrology system aimed to simultaneously measure the relative pistons on the six sides of a target M1 segment with respect to neighboring ones (reference segments) with an accuracy below 300nm in a range o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c99439f7d9cfcb274185e6db1ee306
https://hdl.handle.net/2117/386073
https://hdl.handle.net/2117/386073
Autor:
Giorgio Filippi
Publikováno v:
Clinical Genetics. 30:276-284
265 hypogonadic Sardinian males, ascertained through military records of 600,000 conscripts approximately over the last thirty-seven years, were screened for their sex chromatin phenotype by buccal mucosa smears and for their karyotypes from peripher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd803f4c4b6ce60fcff7d59fccfbf298
https://doi.org/10.1111/j.1399-0004.1986.tb00607.x
https://doi.org/10.1111/j.1399-0004.1986.tb00607.x
Autor:
Giorgio Filippi
Publikováno v:
Clinical Genetics. 3:303-318
Seven cases of the syndrome first described by Rubinstein and Taybi in 1963 are presented. This condition is characterized by broad thumbs and first toes, mental retardation, facial abnormalities and other minor malformations. Personal and family his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d39030be583a90b901602408ebbeab
https://doi.org/10.1111/j.1399-0004.1972.tb01462.x
https://doi.org/10.1111/j.1399-0004.1972.tb01462.x
Autor:
Vanna Pecile, Mariano Rocchi, Giorgio Filippi, Ileana Cigui, Nicoletta Archidiacono, Giovanni Porcelli
Publikováno v:
Scopus-Elsevier
A young girl with 46, XX, r(18)/46, XX/45, XX, –18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring chromosome predominates in blood lymphocytes. In skin fibroblast culture the ring(18)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fc1fdce0d4b480fd4a2a40057eb8ea
https://doi.org/10.1111/j.1399-0004.1984.tb00806.x
https://doi.org/10.1111/j.1399-0004.1984.tb00806.x
Publikováno v:
Clinical Genetics. 18:103-108
We present the case of a 66-year-old XX male who developed breast cancer on the left side at the age of 61. His clinical, endocrinological and cytogenetic features are described. The presence of hypospadias and cancer in the left breast are noteworth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d73e67061fbb96d600c467782554dbb
https://doi.org/10.1111/j.1399-0004.1980.tb01019.x
https://doi.org/10.1111/j.1399-0004.1980.tb01019.x
Autor:
Gaetano Magro, Piero Falzoni, Gianni Garini, Aldo Scabar, Lucia Longa, Caterina Carbonara, Cesare Danesino, Maria Luisa Garrè, Massimo Brisigotti, Guido Monga, Martino Ruggieri, Enrico Grosso, Peter Riegler, Aldo Giannotti, Giorgio Filippi, Nicola Migone, Marzio Gabrielli, Carla Borrone, Gianna Mazzucco
Publikováno v:
Genes, Chromosomes and Cancer. 15:18-25
To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d692608475f15d1b8d50c156db2b96f
https://doi.org/10.1002/(sici)1098-2264(199601)15:1<18::aid-gcc3>3.0.co
https://doi.org/10.1002/(sici)1098-2264(199601)15:1<18::aid-gcc3>3.0.co
Autor:
Margot I. Van Allen, J. F. Magee, James F. Reynolds, Barbara McGillivray, Jacqueline Siegel‐Bartelt, Susan Ritchie, Siu-Li Yong, A Toi, Giorgio Filippi, Charles R. Smith, R.M. Zuker
Publikováno v:
American Journal of Medical Genetics. 47:947-958
Seven patients, including two sibs, with the Brachmann-de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I (“classic”) patients have the characteristic facial and ske
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::308b6d875844fba45fd0862842506852
https://doi.org/10.1002/ajmg.1320470704
https://doi.org/10.1002/ajmg.1320470704
Autor:
Giorgio Filippi, Guido Cristofori
Publikováno v:
American Journal of Medical Genetics. 44:611-614
We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre–Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94b2536f355275d0074e2278387f823
https://doi.org/10.1002/ajmg.1320440516
https://doi.org/10.1002/ajmg.1320440516