Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Smrithi, Salian"'
Autor:
Kimberley M. Reid, Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M. Gorman, Apostolos Papandreou, Michael A. Simpson, Yoshinobu Hirano, Irene Farabella, Maya Topf, Detelina Grozeva, Keren Carss, Martin Smith, Hardev Pall, Peter Lunt, Susanna De Gressi, Erik‐Jan Kamsteeg, Tobias B. Haack, Lucinda Carr, Rita Guerreiro, Jose Bras, Eamonn R. Maher, Richard H. Scott, Robert J. Vandenberg, F. Lucy Raymond, Wui K. Chong, Sniya Sudhakar, Kshitij Mankad, Maarten E. Reith, Philippe M. Campeau, Robert J. Harvey, Manju A. Kurian
Publikováno v:
Reid, K M, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, K M, Papandreou, A, Simpson, M A, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, Gressi, S D, Kamsteeg, EJ, Haack, T B, Carr, L, Guerreiro, R, Bras, J, Maher, E R, Scott, R H, Vandenberg, R J, Raymond, F L, Chong, W K, Sudhakar, S, Mankad, K, Reith, M E, Campeau, P M, Harvey, R J & Kurian, M A 2022, ' MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia ', Movement Disorders, vol. 37, no. 10, pp. 2139-2146 . https://doi.org/10.1002/mds.29147
BackgroundDespite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders.ObjectiveThe objective o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6a3f384902b53907c2243d415fc8f1
https://orca.cardiff.ac.uk/id/eprint/151492/1/mds.29147.pdf
https://orca.cardiff.ac.uk/id/eprint/151492/1/mds.29147.pdf
Autor:
Philippe M. Campeau, Gabrielle Lemire, Smrithi Salian, Thomas Garcia, Stylianos E. Antonarakis, Sophie Ehresmann, Seth I. Berger, Justine Rousseau, Sylviane Hanquinet, Armand Bottani, Xiang-Jiao Yang, Jacques Côté, Ann C.M. Smith, Jonathan Humbert, Jennifer Heeley, Rami Alasiri, Erin Beaver, Periklis Makrythanasis
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, Vol. 107, No 3 (2020) pp. 564-574
American Journal of Human Genetics, Vol. 107, No 3 (2020) pp. 564-574
KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation; but it remains unclear whether variants in this gene ca
Autor:
Sophie Ehresmann, Hyunyun Kim, Virginie Saillour, Smrithi Salian, Guylaine DʹAmours, Philippe M. Campeau, Julie Gauthier, Jean-François Soucy, Grant A. Mitchell, Eliane Beauregard-Lacroix, Geneviève Bernard, Jacques L. Michaud
Publikováno v:
Eur J Hum Genet
Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in
Autor:
Delphine Héron, Wendy Mears, Smrithi Salian, William Boyce Burns, Julia Russo, Elliot S. Stolerman, Valentina Serpieri, David A. Dyment, Philippe M. Campeau, Susanne Morlot, Kristin Herman, Thi Tuyet Mai Nguyen, Ginevra Zanni, Boris Keren, Rachel Rock, Raffaella Cusmai, Efrat Sofrin-Drucker, Hannah Wallaschek, Alison M.R. Castle, Julie R. Jones, Devon L. Johnstone, Haim Bassan
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Background and ObjectivesTo expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency.MethodsAn international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35b417666bc25381eeb42bc61aaf37f
https://hal.sorbonne-universite.fr/hal-03409007
https://hal.sorbonne-universite.fr/hal-03409007
Autor:
Smrithi Salian, Xin-Yu Guo, Yoshiko Murakami, Taroh Kinoshita, Parneet Kaur, Anju Shukla, Katta M. Girisha, Morihisa Fujita, Philippe M. Campeau
Publikováno v:
Human genetics. 141(8)
Glycosylphosphatidylinositol (GPI) functions to anchor certain proteins to the cell surface. Although defects in GPI biosynthesis can result in a wide range of phenotypes, most affected patients present with neurological abnormalities and their disea
Autor:
Martine Doco-Fenzy, Smrithi Salian, Emma Palmer, Mariasavina Severino, Beth Hudson, Elisabetta Amadori, Martin Jakob Larsen, Christina Fagerberg, Lene Sperling, Lucas Herissant, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Anna C.E. Hurst, Valeria Capra, Annalaura Torella, Ieva Miceikaite, Pasquale Striano, Megan Boothe, Melanie Jennesson, Andrea Accogli, Vincenzo Nigro, Marcello Scala, Philippe M. Campeau, Tawfeg Ben-Omran, Michele Pinelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e07c5935003afbd27fb4b8e19ad3868c
https://doi.org/10.1111/cge.14033/v2/response1
https://doi.org/10.1111/cge.14033/v2/response1
Autor:
Alison M R, Castle, Smrithi, Salian, Haim, Bassan, Efrat, Sofrin-Drucker, Raffaella, Cusmai, Kristin C, Herman, Delphine, Heron, Boris, Keren, Devon L, Johnstone, Wendy, Mears, Susanne, Morlot, Thi Tuyet Mai, Nguyen, Rachel, Rock, Elliot, Stolerman, Julia, Russo, William Boyce, Burns, Julie R, Jones, Valentina, Serpieri, Hannah, Wallaschek, Ginevra, Zanni, David A, Dyment, Philippe M, Campeau
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency. Methods An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and ne
Autor:
Anna C.E. Hurst, Christina Fagerberg, Lene Sperling, Marcello Scala, Lucas Herissant, Martine Doco-Fenzy, Emma Palmer, Beth Hudson, Melanie Jennesson, Martin Jakob Larsen, Elisabetta Amadori, Vincenzo Nigro, Andrea Accogli, Smrithi Salian, Pasquale Striano, Annalaura Torella, Michele Pinelli, Ieva Miceikaite, Megan Boothe, Valeria Capra, Tawfeg Ben-Omran, Mariasavina Severino, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Philippe M. Campeau
Publikováno v:
Salian, S, Scala, M, Nguyen, T T M, Severino, M, Accogli, A, Amadori, E, Torella, A, Pinelli, M, Hudson, B, Boothe, M, Hurst, A, Ben-Omran, T, Larsen, M J, Fagerberg, C R, Sperling, L, Miceikaite, I, Herissant, L, Doco-Fenzy, M, Jennesson, M, Nigro, V, Striano, P, Minetti, C, Sachdev, R K, Palmer, E E, Capra, V & Campeau, P M 2021, ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ', Clinical Genetics, vol. 100, no. 5, pp. 607-614 . https://doi.org/10.1111/cge.14033
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3fe22c0aedd460712ac6f3bb7a46121
http://hdl.handle.net/11588/873440
http://hdl.handle.net/11588/873440
Publikováno v:
Indian Journal of Dermatology, Vol 61, Iss 6, Pp 700-700 (2016)
Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier
Externí odkaz:
https://doaj.org/article/1547b9f63ae0422cb5b094aa7eef9442
Publikováno v:
Indian Journal of Dermatology, Vol 61, Iss 1, Pp 122-122 (2016)
In genetically and phenotypically heterogeneous conditions like ichthyosis, it is clinically not possible to predict mutation in a specific gene. Sequential testing of all the causative genes is time consuming and expensive. In consanguineous familie
Externí odkaz:
https://doaj.org/article/eacb71dfe9c04ffea81a91419394b83f