Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Patrizia, Fiorio"'
Autor:
Giulia Amico, Elisa Tassano, G. Donarini, Dario Paladini, Patrizia Fiorio, Gabriella Meccariello, Ezio Fulcheri
Publikováno v:
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 39(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae07f3eb45d64c7cf7e80c86638a658
https://pubmed.ncbi.nlm.nih.gov/32412111
https://pubmed.ncbi.nlm.nih.gov/32412111
Autor:
Giorgio Gimelli, Patrizia Fiorio, Marcello Scala, Valeria Capra, Patrizia Ronchetto, Annalisa Calcagno, Elisa Tassano
Publikováno v:
Journal of Genetics. 98
The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The '16p12.2 microdeletion' is a recurrent deletion comprised between BP2 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d7988b2218133c975602e87861d0bd1
https://doi.org/10.1007/s12041-019-1107-0
https://doi.org/10.1007/s12041-019-1107-0
Autor:
Giorgio Gimelli, Patrizia Fiorio, Mariasavina Severino, Thea Giacomini, Alessandra Gamucci, Elisa Tassano, Patrizia Ronchetto
Publikováno v:
Cytogenetic and Genome Research. 152:22-28
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b177a2008d437e82929320a3fac053b1
https://doi.org/10.1159/000477292
https://doi.org/10.1159/000477292
Autor:
Elisa Tassano, Thea Giacomini, Patrizia Fiorio, Patrizia Ronchetto, Domenico Coviello, Michela Malacarne, Sara Uccella, Giorgio Gimelli, Elisa Tavella
Publikováno v:
European journal of medical genetics. 63(6)
Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e717a23d77512174bb179b1434588855
https://pubmed.ncbi.nlm.nih.gov/32209393
https://pubmed.ncbi.nlm.nih.gov/32209393
Autor:
Patrizia Ronchetto, Sara Uccella, Giorgio Gimelli, Patrizia Fiorio, Mariasavina Severino, Thea Giacomini, Elisa Tassano
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene disorders, which complicate the understanding of genotype-phenotype correlations. Chromosome b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::566823fe5e2db113322ea57f93357ba2
https://hdl.handle.net/11567/1060158
https://hdl.handle.net/11567/1060158
Autor:
Paola Anserini, Lucia De Santis, Patrizia Fiorio, Claudia Massarotti, Daniela Pastorino, Roberto Gastaldi, Valentino Remorgida
Publikováno v:
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 33(10)
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068d77e5407ff4748857dde3a607c31e
https://pubmed.ncbi.nlm.nih.gov/28485664
https://pubmed.ncbi.nlm.nih.gov/28485664
Autor:
Elisa, Tassano, Thea, Giacomini, Mariasavina, Severino, Alessandra, Gamucci, Patrizia, Fiorio, Giorgio, Gimelli, Patrizia, Ronchetto
Publikováno v:
Cytogenetic and genome research. 152(1)
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d91fd9af383fe94a97e8ff74d836b167
https://pubmed.ncbi.nlm.nih.gov/28605748
https://pubmed.ncbi.nlm.nih.gov/28605748
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation
Autor:
Roberto Gastaldi, Patrizia Fiorio, Roberto Ravazzolo, Giorgio Gimelli, Cristina Cuoco, Renata Bocciardi, Lucia De Santis, Fabrizia Bonatti
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4beacb996b3d0b05a61a6953967fb9c5
http://hdl.handle.net/11567/819375
http://hdl.handle.net/11567/819375
Autor:
Roberto Giorda, Andrea Gregorio, Claudio Gambini, Patrizia Fiorio, Silvana Beri, Robert M. Gemmill, Harry A. Drabkin, Stefania Gimelli, Giorgio Gimelli, Orsetta Zuffardi
Publikováno v:
Molecular Cancer, Vol. 8 (2009) P. 52
Molecular Cancer, Vol 8, Iss 1, p 52 (2009)
Molecular Cancer
Molecular Cancer, Vol 8, Iss 1, p 52 (2009)
Molecular Cancer
Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbcd0eba79720a722e68490340eb9671
https://doi.org/10.1186/1476-4598-8-52
https://doi.org/10.1186/1476-4598-8-52