Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Flavia Piazzon"'
Autor:
Tamara Dangouloff, Kristine Hovhannesyan, Davood Mashhadizadeh, Frederic Minner, Myriam Mni, Laura Helou, Flavia Piazzon, Leonor Palmeira, François Boemer, Laurent Servais
Publikováno v:
Children, Vol 11, Iss 8, p 926 (2024)
Purpose: Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creati
Externí odkaz:
https://doaj.org/article/f6a1f55d253b427bbf0e9f0d9f943c58
Autor:
Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100879- (2022)
Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder tha
Externí odkaz:
https://doaj.org/article/2d8ce356c2b2446e9648067f9eaacfbe
Autor:
Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba
Publikováno v:
Neuromuscular Disorders. 31:574-582
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee
Sonography of the distal femoral epiphysis in the etiological diagnosis of congenital hypothyroidism
Autor:
Eduardo Tomimori, Luiz Felipe Alves Guerra, Jéssica Fracalossi, Ana Paula Main, Ramon Nunes, Katia Cristine Carvalho Pereira, Flavia Piazzon, Cristina Bravin, Liliana Prata Souza, Ronald Freire, Christina Hegner, Marina Becalli, Marcia Maria Giusti, Letícia Souza, Rosalinda Camargo, Daniela Lube, Mylene Murad, Ronaldo Souza
Publikováno v:
Journal of Clinical Ultrasound. 49:135-140
The etiology of congenital hypothyroidism (CH) is often difficult to identify, owing mainly to limitations in currently available diagnostic tests. Characteristics of the distal femoral epiphyseal (DFE) ossification center may provide important infor