Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders

Autor: Cristina Skrypnyk, Rawan AlHarmi

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

BackgroundRare genetic disorders may result in death before a definitive clinical diagnosis is established.AimThis study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare

Externí odkaz: https://doaj.org/article/053c7f000d8d4e9bb12f3aeef5013c09

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome

Autor: Razan Abduljalil, Hadhami Ben Turkia, Aysha Fakhroo, Cristina Skrypnyk

Publikováno v: Case Reports in Hepatology, Vol 2023 (2023)

Mitochondrial depletion syndromes are well established causes of liver failure in infants. Hepatocerebral variant related to MPV17 gene defect is characterized by infantile onset of progressive liver failure, developmental delay, neurological manifes

Externí odkaz: https://doaj.org/article/e903f290101a44138acbd2982ec55645

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Autor: Marcello Scala, Saskia B. Wortmann, Namik Kaya, Menno D. Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D. Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka‐Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B. Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G. Karimiani, Yilmaz Yildiz, Ahmet C. Ceylan, Teresa Santiago‐Sim, Amy Dameron, Hui Yang, Mehran B. Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S. Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A. Al‐Muhaizea, Meznah O. Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H. Alwadei, Maha M. AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A. Lines, M. Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P. Ferla, Jenny C. Taylor, Hessa S. Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt‐Mechelke, Andreas Ziegler, Mahmoud Y. Issa, Hasnaa M. Elbendary, Pasquale Striano, Fowzan S. Alkuraya, Maha S. Zaki, Joseph G. Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S. Knaap, Reza Maroofian, Henry Houlden

Publikováno v: Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency ', Human Mutation, vol. 43, no. 3, pp. 403-419 . https://doi.org/10.1002/humu.24326
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(3), 403-419. Wiley-Liss Inc.
Human mutation, 43(3), 403-419. Wiley-Liss Inc.
Human Mutation, 43, 403-419
Human Mutation, 43(3), 403-419. Wiley
Hum. Mutat. 43, 403-419 (2022)
Human Mutation, 43, 3, pp. 403-419

Contains fulltext : 283128.pdf (Publisher’s version ) (Open Access) Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an es

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ffced23d066eec204dd4691b5d99de5
https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32

Current management of Duchenne muscular dystrophy in the Middle East: expert report

Autor: Cristina Skrypnyk, Abubaker Al Madani, Mohammed Jan, André Mégarbané, Khalid Al Thihli, Ali Al Shehri, Abdulaziz Al Saman, Mohammad Al Muhaizea, Waseem Fathalla, Andoni Urtizberea, Gholamreza Zamani, Sylvie Tuffery-Giraud, Carlos Ignacio Ortez González, Pawan Kashyape, Ahmed Al Rumayyan, Edward Cupler, Laila Bastaki, Mohammed Al Jumah, Gururaj Aithala Kodavooru

Publikováno v: Neurodegenerative Disease Management

Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to addr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2083e73b42e1499b6778e9dd983e38a
https://doi.org/10.2217/nmt-2019-0002

Author response for 'A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases'

Autor: J. Andoni Urtizberea, Nicolas Lévy, Catherine Robert, Moiz Bakhiet, Valérie Delague, Marc Bartoli, Alexandra Salvi, Nathalie Da Silva, André Mégarbané, Cristina Skrypnyk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ec89e01ba6cf0786a986d410abf100
https://doi.org/10.1111/cge.13959/v3/response1