Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Mariangela Cisternino"'
Autor:
Mariangela Cisternino, Erika Della Mina, Laura Losa, Alexandra Madè, Giulia Rossetti, Lorenzo Andrea Bassi, Giovanni Pieri, Baran Bayindir, Jole Messa, Orsetta Zuffardi, Roberto Ciccone
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)
Externí odkaz:
https://doaj.org/article/54b2aefd8aa74938b952d1a1d04a7604
Autor:
Lorenzo Andrea Bassi, Caterina Brasacchio, Katia Maruca, Mariangela Cisternino, Stefano Mora, Alessandra Mingione, Ilaria Brambilla, Silvia Capelli, Laura Soldati
Publikováno v:
Molecular and cellular endocrinology. 439
Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum conc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e30b53431a99b5cbf9f6eb0b6b792410
https://pubmed.ncbi.nlm.nih.gov/27561204
https://pubmed.ncbi.nlm.nih.gov/27561204
Autor:
Mariangela Cisternino, Francesca Pivari, Laura Soldati, Caterina Brasacchio, Annalisa Terranegra, Elena Dogliotti, Alessandra Mingione, Katia Maruca, Stefano Mora, Silvia Capelli
Publikováno v:
Qatar Foundation Annual Research Conference Proceedings Volume 2016 Issue 1.
BackgroundAutosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene that encodes for a plasma membrane G protein-coupled receptor. This protein plays a central role in maint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4053a66d189c791b7a1daa00a1e3f579
https://doi.org/10.5339/qfarc.2016.hbpp2064
https://doi.org/10.5339/qfarc.2016.hbpp2064
Autor:
Vincenza Brizzi, P. Sampaolo, Alessandro Alfei, Mariangela Cisternino, Daniela Larizza, F. Beneventi, Valeria Calcaterra, Catherine Klersy
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 33:85-91
Objective To determine the utility of breast ultrasono- graphy in the diagnostic work-up of precocious puberty and to create a prognostic index for early differentiation between non/slowly progressive or transient forms of precocious puberty and rapi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399e23f1c42a1331c8412b14a4af0bdb
https://doi.org/10.1002/uog.6271
https://doi.org/10.1002/uog.6271
Autor:
Mariangela Cisternino, Juan Carlos López-Gutiérrez, Pedro Lopez-Pereira, Salvatore Savasta, Ignacio Pascual-Castroviejo, Carlos Míguelez Lago
Publikováno v:
Journal of Pediatric Surgery. 43:1998-2003
Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32c047a491330c60709c774408d2e77f
https://doi.org/10.1016/j.jpedsurg.2008.01.074
https://doi.org/10.1016/j.jpedsurg.2008.01.074
Autor:
Mariacarolina Salerno, M. Caruso-Nicoletti, Maria E. Street, Mariangela Cisternino, Lorenzo Iughetti, Malgorzata Wasniewska, Stefano Zucchini, Stefano Cianfarani, Mohamad Maghnie
Publikováno v:
European Journal of Pediatrics. 167:677-681
By retrospectively collecting data from nine Italian centres of pediatric endocrinology, we assessed the different management and final outcome of children with short stature and idiopathic delayed puberty. Data were obtained in 77 patients (54 males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41e092f2b499189a91a9cff8561f905
https://doi.org/10.1007/s00431-007-0576-y
https://doi.org/10.1007/s00431-007-0576-y
Autor:
Elisa Fazzi, Daniela Bellotti, Jessica Galli, Anna Cremante, Francesca Novara, Orsetta Zuffardi, Annapia Verri, Laura Losa, Edoardo Errichiello, Mariangela Cisternino
Publikováno v:
Molecular Cytogenetics
Background Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe to mild intellectual disabilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecab4f8004eab3ab141d48003e986534
https://pubmed.ncbi.nlm.nih.gov/27625702
https://pubmed.ncbi.nlm.nih.gov/27625702
Autor:
Valeria Calcaterra, Paola Brambilla, Gaia Lanati, Teresa Mondello, Daniela Larizza, Mariangela Cisternino
Publikováno v:
L'Endocrinologo. 6:121-129
Per puberta precoce s’intende la comparsa di uno o piu caratteri sessuali secondari prima degli otto anni nella femmina e prima dei nove anni nel maschio. La puberta precoce puo essere gonadotropino-dipendente o vera, cioe caratterizzata dalla prec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddec8b5fa7bfae694c5b1342ce684b48
https://doi.org/10.1007/bf03344518
https://doi.org/10.1007/bf03344518
Autor:
Alessandro Borghesi, Carl Joachim Partsch, Martin Chalumeau, Wilma Oostdijk, Gérard Bréart, Sze May Ng, Charalambos G Hadjiathanasiou, Emanuele Cacciari, Raja Brauner, Mariangela Cisternino, Mohammed Didi, Alessandra Cassio, Charalambos Theodoridis, Wolfgang G. Sippell, Dick Mul
Publikováno v:
The Journal of Pediatrics. 143:445-450
To test the sensitivities of recently published American recommendations predicting occult intracranial lesion (OICL) in girls with central precocious puberty (CPP), and to validate a previously derived diagnosis rule predicting OICL based on age at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca017efae7e69db6f317387e4a41e4f
https://doi.org/10.1067/s0022-3476(03)00328-7
https://doi.org/10.1067/s0022-3476(03)00328-7
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 88:1241-1247
The POU transcription factor Pit-1 functions in the development of somatotrophs, lactotrophs, and thyrotrophs of the anterior pituitary gland. It also plays a role in cell-specific gene expression and regulation of the gene products from these cell t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::406a81a82e0a1a1bfe4e55ccb3514974
https://doi.org/10.1210/jc.2002-021510
https://doi.org/10.1210/jc.2002-021510