Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Adriana Lo-Castro"'
Autor:
Lakshmi Pillai-Kastoori, Wen Wen, Stephen G Wilson, Erin Strachan, Adriana Lo-Castro, Marco Fichera, Sebastiano A Musumeci, Ordan J Lehmann, Ann C Morris
Publikováno v:
PLoS Genetics, Vol 10, Iss 7, p e1004491 (2014)
Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog s
Externí odkaz:
https://doaj.org/article/5f30ed6aa6124f9aa7e1fe5f87cabb6a
Autor:
Michela Murdocca, Claudio Frank, Chiara Greggi, Virginia Tancredi, Sabina Pucci, Adriana Lo Castro, Federica Sangiuolo, Anna Zaratti, Giovanna D'Arcangelo
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 7, p 1442 (2017)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endo-lysosomal compartment of cells. In the central nervous system, hypoxic insults cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c32858eba892c8328ac85d8495839bd
https://www.mdpi.com/1422-0067/18/7/1442
https://www.mdpi.com/1422-0067/18/7/1442
Autor:
Mariabernarda Pitzianti, Cinzia Galasso, Martina Siracusano, Adriana Lo-Castro, Augusto Pasini, Caterina Rosa, Loredana Di Carlo
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :869-873
Children with Neurofibromatosis type 1 (NF1) are known to have cognitive, social, and behavioral deficits. Fifteen NF1-subjects (5 boys, 10 girls, mean age = 13.4), and 15 healthy controls matched for age and sex were assessed on the presence of anxi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5726b5b1c9b25d0310b03ccff2371250
https://doi.org/10.1002/ajmg.b.32095
https://doi.org/10.1002/ajmg.b.32095
Publikováno v:
Research in Autism Spectrum Disorders. 4:319-327
Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dc63cdaf2c7f1005c2477252490ad3c
https://doi.org/10.1016/j.rasd.2009.10.006
https://doi.org/10.1016/j.rasd.2009.10.006
Autor:
Adriana Lo Castro, Anna Maria Nardone, Ambrogio Di Paolo, C. Lalli, Paolo Curatolo, Cinzia Galasso
Publikováno v:
Brain and Development. 29:312-316
Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a664dbc05f819ba95f7ef26c3500c715
https://doi.org/10.1016/j.braindev.2006.09.014
https://doi.org/10.1016/j.braindev.2006.09.014
Autor:
Grazia Giana, Samuele Cortese, Adriana Lo-Castro, Marie Christine Mouren, Paolo Curatolo, Silvia Giovinazzo, Diane Purper-Ouakil, Maria Cristina Porfirio
Publikováno v:
Medical Hypotheses
Medical Hypotheses, Elsevier, 2015, 84 (1), pp.4-7. ⟨10.1016/j.mehy.2014.11.004⟩
Medical Hypotheses, Elsevier, 2015, 84 (1), pp.4-7. ⟨10.1016/j.mehy.2014.11.004⟩
International audience; Besides the crucial role of genetic susceptibility in the development of early-onset obesity, it has been shown that feeding behavior could contribute to increased body weight. A significant association between obesity/overwei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c1dd18c8d13c723b6d9ca2fbbda1b6
https://hal.archives-ouvertes.fr/hal-02164786
https://hal.archives-ouvertes.fr/hal-02164786
Autor:
Michelle Moffat, Juan I. Young, Katherina Walz, Paolo Curatolo, Kathrine Bjørgo, Lily Zhang, Devon Cohen, Korcan Demir, Francesco Brancati, Giuseppe Novelli, Oscar Diaz-Horta, Adriana Lo Castro, Paul M. Neilsen, Nienke E. Verbeek, David F. Callen, Mustafa Tekin, Clemer Abad, I I Joseph Foster, Cao Lei, Richard Fisher
Publikováno v:
Human Genetics, 134(2), 181. Springer Verlag
Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd6450767e69cc7dca5f0bac4295ee4
http://hdl.handle.net/11697/122716
http://hdl.handle.net/11697/122716
Publikováno v:
Neuropediatrics. 44:222-224
Some clinical experiences indicate that H1-antihistamines, especially first-generation H1-antagonists, occasionally provoke convulsions in healthy children as well as epileptic patients. Desloratadine is a frequently used second-generation antihistam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907db110fe22af74d5000330710c2416
https://doi.org/10.1055/s-0033-1333871
https://doi.org/10.1055/s-0033-1333871
Autor:
Augusto Pasini, Adriana Lo-Castro, Loredana Di Carlo, Cinzia Galasso, Elisa D'Agati, Paolo Curatolo, Maria Bernarda Pitzianti
Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9652639b14647569c946234e126d7230
http://hdl.handle.net/2108/103407
http://hdl.handle.net/2108/103407
Autor:
Adriana Lo-Castro, Erin Strachan, Sebastiano A. Musumeci, Lakshmi Pillai-Kastoori, Ann C. Morris, Wen Wen, Stephen G. Wilson, Ordan J. Lehmann, Marco Fichera
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 10, Iss 7, p e1004491 (2014)
PLoS Genetics, Vol 10, Iss 7, p e1004491 (2014)
Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b566201b78c5393d20ce7f85f49afa47
https://pubmed.ncbi.nlm.nih.gov/25010521
https://pubmed.ncbi.nlm.nih.gov/25010521