Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Bianca E. Russell"'
Autor:
Stephanie A. Balow, Alyxis G. Coyan, Nicki Smith, Bianca E. Russell, Danielle Monteil, Robert J. Hopkin, Teresa A. Smolarek
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Chromoanagenesis is an umbrella term used to describe catastrophic “all at once” cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a small number of
Externí odkaz:
https://doaj.org/article/421b01ede5db438ca2b55bfad55481ee
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundChromatin Modifying Disorders (CMD) have emerged as one of the most rapidly expanding genetic disorders associated with autism spectrum disorders (ASD). Motor impairments are also prevalent in CMD and may play a role in the neurodevelopment
Externí odkaz:
https://doaj.org/article/4f77f8783d88493bb50e12046ebd365c
Autor:
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, REACH Biobank and Registry, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
ASXL1 (additional sex combs–like 1) plays key roles in epigenetic regulation of early developmental gene expression. De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition
Externí odkaz:
https://doaj.org/article/42603961402a403db60591e2ecc78c13
Autor:
Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway,
Externí odkaz:
https://doaj.org/article/294b475363534c688aa98334f4016174
Publikováno v:
American Journal of Medical Genetics Part A. 191:1050-1058
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a557a154fc70e8d1a4de21e7714cd0c9
https://doi.org/10.1002/ajmg.a.63125
https://doi.org/10.1002/ajmg.a.63125
Autor:
Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, Tugce B. Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra‐Clarke, Matthew Edwards, Casie A. Genetti, Dorothy K. Grange, Scott E. Hickey, Bertrand Isidor, Sébastien Küry, Herbert M. Lachman, Alinoe Lavillaureix, Michael J. Lyons, Carlo Marcelis, Elysa J. Marco, Julian A. Martinez‐Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J. Prijoles, Evelise Riberi, Eric T. Rush, Bianca E. Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A. Stevenson, Kate Wilson, Sandra Jansen, Bert B. A. de Vries, Cynthia J. Curry
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 7, pp. 1900-1910
American Journal of Medical Genetics. Part A, 191, 1900-1910
American Journal of Medical Genetics. Part A, 191, 1900-1910
Item does not contain fulltext Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bb4c52a60276aeb742e8035b132210
https://repository.ubn.ru.nl/handle/2066/293471
https://repository.ubn.ru.nl/handle/2066/293471
Autor:
Patrick Devine, Adib A. Abla, Joseph T. Shieh, Yan Hu, Patricia Cornett, Christopher F. Dowd, Vivian Y. Chang, Hane Lee, Sung Hae L. Kang, Iwei Yeh, Daniel L Cooke, Ilona J. Frieden, Bianca E Russell, Julian A. Martinez-Agosto, Steven W. Hetts, Jirat Chenbhanich
Publikováno v:
American Journal of Medical Genetics Part A. 185:1430-1436
Activating variants in the platelet-derived growth factor receptor β gene (PDGFRB) have been associated with Kosaki overgrowth syndrome, infantile myofibromatosis, and Penttinen premature aging syndrome. A recently described phenotype with fusiform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b93381afe63a9938766aa78914547d9
https://doi.org/10.1002/ajmg.a.62126
https://doi.org/10.1002/ajmg.a.62126
Autor:
Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca E. Russell, Lee-kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Christine V. Malicdan, Michael F. Wangler
Publikováno v:
Genetics in Medicine. :100833
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc136db301799c5ddd4a6e292bd651a4
https://doi.org/10.1016/j.gim.2023.100833
https://doi.org/10.1016/j.gim.2023.100833
Autor:
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R. Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W. Scherer, Valerie A. Arboleda, Bianca E. Russell, Rosanna Weksberg
Publikováno v:
European journal of human genetics : EJHG, vol 30, iss 6
The additional sex combs-like (ASXL) gene family—encoded by ASXL1, ASXL2, and ASXL3—is crucial for mammalian development. Pathogenic variants in the ASXL gene family are associated with three phenotypically distinct neurodevelopmental syndromes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05126d9c8d8792f2ab8fd7cb8edadd0d
https://pubmed.ncbi.nlm.nih.gov/35361921
https://pubmed.ncbi.nlm.nih.gov/35361921
Autor:
Javeria Reza Alvi, Henry Houlden, Vincenzo Salpietro, Marina Dutra-Clarke, Rauan Kaiyrzhanov, Pasquale Striano, Barbara Vona, Bianca E Russell, Philippe M. Campeau, Stephanie Efthymiou, Maria J. Guillen Sacoto, Reza Maroofian, Kshitij Mankad, Joseph G. Gleeson, Marcello Scala, Aboulfazl Rad, Tipu Sultan, Marilena Christoforou, Maha S. Zaki, Thi Tuyet Mai Nguyen
Publikováno v:
Epilepsia
The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol‐anchored protein (G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67873951fe15a7f1645e9fd26908dfb
http://hdl.handle.net/11567/1040342
http://hdl.handle.net/11567/1040342