Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Rosetta Lecce"'
Autor:
Angelo Selicorni, Salvatore Savasta, Luigi Memo, Alina T. Midro, Livia Garavelli, Giovanni Sorge, Marcella Zollino, Pietro Cavalli, Yolanda Gyftodimou, Domenica Battaglia, Rita Fischetto, Giuseppe Zampino, Francesca Faravelli, Effie Pandelia, Laura Mazzanti, Romano Tenconi, Laura Rodríguez, Rosetta Lecce, Daniela Orteschi, Michael B. Petersen, Giovanni Neri, Giuseppe Marangi, Marina Murdolo
Publikováno v:
Human Genetics. 122:423-430
The basic genomic defect in Wolf–Hirschhorn syndrome (WHS), including isolated 4p deletions and various unbalanced de novo 4p;autosomal translocations and above all t(4p;8p), is heterogeneous. Olfactory receptor gene clusters (ORs) on 4p were demon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47172d0500bb69b0b52dda8e9ac9fd4a
https://doi.org/10.1007/s00439-007-0412-5
https://doi.org/10.1007/s00439-007-0412-5
Autor:
Rosetta Lecce, Giovanni Neri, Gianfranco Gelli, Marcella Zollino, Katharina Steindl, Anna Romano, Elisa Cupelli, Livia Coppola, Marina Murdolo
Publikováno v:
Human Genetics. 118:760-766
A large duplication involving the proximal euchromatic region of chromosome 9p was detected by conventional cytogenetics in a healthy 33-year-old woman and in two unrelated foetuses; both of them received the rearrangement from their healthy father.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de19b027084e9c18a5192838463f5f4
https://doi.org/10.1007/s00439-005-0085-x
https://doi.org/10.1007/s00439-005-0085-x
Autor:
Angelo Selicorni, Giovanni Neri, Giuseppe Zampino, Marcella Zollino, Rosetta Lecce, Alessandra Ferrarini, Livia Garavelli, Mariano Rocchi, John M. Opitz, Giuseppe Marangi, Marina Murdolo, Irene Mancuso
Publikováno v:
European Journal of Human Genetics. 12:797-804
A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first explained as phenotypic variability of the WHS. The actual deletion size was found to be abou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3679ac311c7b4901ca2131e4b216c85
https://doi.org/10.1038/sj.ejhg.5201203
https://doi.org/10.1038/sj.ejhg.5201203
Autor:
Giuseppe Marangi, Maria Eufemia Grimaldi, Rosetta Lecce, Marcella Zollino, Giovanni Neri, Daniela Orteschi, Vincenzo Leuzzi
Publikováno v:
American journal of medical genetics. Part A. (18)
We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. Mental retardation was moderate (IQ 45), with very limited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59b0d0f7e1ae0cac12e873ff9ca68289
https://pubmed.ncbi.nlm.nih.gov/18688873
https://pubmed.ncbi.nlm.nih.gov/18688873
Autor:
Giuseppe Grande, Antonio Mancini, Alfredo Pontecorvi, Erika Leone, Roberto Festa, Marcella Zollino, Giovanni Neri, Rosetta Lecce
Publikováno v:
Fertility and sterility. 90(5)
Objective To report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature. Design Case report. Setting University Genetic Center and Endocrine Clinic. Patient(s) A 41-year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1f4e4fb0151dc6050a0d10706cedfa
https://pubmed.ncbi.nlm.nih.gov/19800485
https://pubmed.ncbi.nlm.nih.gov/19800485
Autor:
Rosetta Lecce, Giovanni Neri, John M. Opitz, Marcella Zollino, Fiorella Gurrieri, Vincenzo Leuzzi, Eugenio Sangiorgi, Elisabetta Tabolacci
We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and brain abnormalities, including frontal cortical atrophy. These two boys resembled the t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246c9512d5775e5e59f7f5e5ffff3411
https://hdl.handle.net/10807/228435
https://hdl.handle.net/10807/228435
Autor:
Maurício Mota de Avelar Alchorne, Rosetta Lecce, Marcella Zollino, Maria Ines Kavamura, John M. Opitz, Decio Brunoni, Marina Murdolo, Giovanni Neri
Publikováno v:
American journal of medical genetics. Part A. (2)
Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000, 2002]. The patients did not have the classical CFC phenotype and presented other signs not usually seen in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39cada6b8793472d327e6019e083efb
https://pubmed.ncbi.nlm.nih.gov/12749059
https://pubmed.ncbi.nlm.nih.gov/12749059
Autor:
Rosetta Lecce, Angelo Selicorni, Giovanni Neri, Marina Murdolo, Giuseppe Capovilla, Rita Fischetto, Francesca Faravelli, Marcella Zollino, Luigi Memo, Cinzia Buttè
In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients carrying a 4p16.3 microdeletion were analyzed for their clinical phenotype and their respecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d9d2a81bb66c56a200f06448423f6
https://europepmc.org/articles/PMC1180235/
https://europepmc.org/articles/PMC1180235/
Autor:
Marina Murdolo, Maria Grazia Pomponi, Decio Brunoni, G. Neri, Marcella Zollino, John M. Opitz, Rosetta Lecce, M. I. Kavamura, Maurício Mota de Avelar Alchorne
Publikováno v:
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925413eb5b18626eb31a92bfd19f6c68
https://pubmed.ncbi.nlm.nih.gov/12529707
https://pubmed.ncbi.nlm.nih.gov/12529707
Autor:
Rosetta Lecce, Pietro Chiurazzi, Giovanni Neri, Marcella Zollino, Maria Grazia Pomponi, Jolanta Bajer, Elisabetta Tabolacci
Publikováno v:
American Journal of Medical Genetics. :315-316
We report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5bd36f52ea50fd3ac8e95df89e99ec
https://doi.org/10.1002/ajmg.a.30300
https://doi.org/10.1002/ajmg.a.30300