Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Autor: Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Marafi, Dana, Zaki, Maha S., Suri, Mohnish, Dominguez, Roberto, Elbendary, Hasnaa M., Alavi, Shahryar, Abdel-Hamid, Mohamed S., Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Zafar, Faisal, Rana, Nuzhat, Saadi, Nebal W., Firoozfar, Zahra, Gencpinar, Pinar, Unay, Bulent, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Stefanich, Jennifer, Sezer, Ozlem, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y., El Khassab, Hebatallah, Chand, Prem, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Morrison, Jennifer, Cristian, Ingrid, Thiffault, Isabelle, Bertsch, Nicole L., Noh, Grace J., Pappas, John, Moran, Ellen, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Hosseini, Susan, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E.L.M., Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S., Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Challa, Viveka Santhosh R., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Victor, Lucas Alves, Pinero-Banos, Benito, Hague, Jennifer, Ei-Awady, Heba Ahmed, Maria de Miranda Henriques-Souza, Adelia, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Atawneh, Osama, Mor-Shaked, Hagar, Harel, Tamar, Zifarelli, Giovanni, Bauer, Peter, Kok, Fernando, Kitajima, Joao Paulo, Monteiro, Fabiola, Josahkian, Juliana, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothe, Murphy, David, Neul, Jeffrey L., Mullegama, Sureni V., Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Posey, Jennifer E., Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Macek, Milan, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Amor, David J., Jamra, Rami Abou, Chung, Wendy K., Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S., Pagnamenta, Alistair T., Gleeson, Joseph, Lupski, James R., Striano, Pasquale, Moreno-De-Luca, Andres, Lafontaine, Denis L.J., Houlden, Henry, Maroofian, Reza

Publikováno v: In Genetics in Medicine September 2024

A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder

Autor: Magrino, Joseph, Munford, Veridiana, Martins, Davi Jardim, Homma, Thais K., Page, Brendan, Gaubitz, Christl, Freire, Bruna L., Lerario, Antonio M., Vilar, Juliana Brandstetter, Amorin, Antonio, Leão, Emília K.E., Kok, Fernando, Menck, Carlos FM., Jorge, Alexander AL., Kelch, Brian A.

Publikováno v: In Journal of Biological Chemistry May 2023 299(5)

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Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Autor: Rad, Aboulfazl, Bartsch, Oliver, Bakhtiari, Somayeh, Zhu, Changlian, Xu, Yiran, Monteiro, Fabíola P., Kok, Fernando, Vulto‐van Silfhout, Anneke T., Kruer, Michael C., Bowl, Michael R., Vona, Barbara

Publikováno v: Clinical Genetics; Oct2024, Vol. 106 Issue 4, p413-426, 14p

Genetic profile of Brazilian patients with LAMA2‐related dystrophies.

Autor: Camelo, Clara Gontijo, Moreno, Cristiane de Araujo Martins, Artilheiro, Mariana da Cunha, Fonseca, Alulin Tácio Quadros Monteiro, Gurgel Gianetti, Juliana, Barbosa, André Vinícius, Donis, Karina Carvalho, Saute, Jonas Alex Morales, Pessoa, André, Van der Linden, Hélio, Gonçalves, Ana Rita Alcântara, Kulikowski, Leslie Domenici, Kok, Fernando, Zanoteli, Edmar

Publikováno v: Clinical Genetics; Sep2024, Vol. 106 Issue 3, p305-314, 10p