Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Melissa Byler"'
Autor:
Katherine Guilbo, Jennifer Black, Melissa Byler, Zafer Soultan, Saurabh Gupta, Prateek Wali, Irene Cherrick, Robert Lebel, Angela Wratney
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100211- (2023)
Externí odkaz:
https://doaj.org/article/33796bd6af9a4eebab8e31dc6da5289e
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100368- (2023)
Externí odkaz:
https://doaj.org/article/251a8dae019b4fc280625de950bc998f
Autor:
Renske Oegema, Yue Si, Jennifer B. Humberson, Kathleen Brown, Lindsay Rhodes, Erika D'haenens, Richard H. van Jaarsveld, Melissa Byler, Michael Parker, Arnaud Vanlander, Ann Oostra, Sarah Vergult, Eva Jacobs, Farah Kanani, Francisca Millan, Bert Callewaert, Laurie H. Seaver, Annelies Dheedene, Margarita Saenz, Lindsay B. Henderson, Robert Roger Lebel
Publikováno v:
Clinical Genetics. 99:259-268
The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e156ad3018f20b99d86ef0d5da958878
https://doi.org/10.1111/cge.13874
https://doi.org/10.1111/cge.13874
Autor:
Elizabeth C. Engle, Isabelle Thiffault, Fernando Santos-Simarro, Laura A Cross, Sha Tang, Eleina M. England, James Gilfert, Shivarajan M. Amudhavalli, Sixto García-Miñaur, Robert Roger Lebel, Jonathon Hess, Zöe Powis, Wendy Alcaraz, Jameson Patak, Melissa Byler, Brenda J. Barry, Vamsee K Neerukonda, Marta Pacio-Míguez, María Palomares-Bralo, Julie Jurgens
Publikováno v:
Clinical Genetics. 96:493-505
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873fab4bf117b8d0e7afec72a1e537ad
https://doi.org/10.1111/cge.13620
https://doi.org/10.1111/cge.13620
Autor:
Jonathan Rodgers, Antonia Marchese, Frances Elmslie, Claudine Rieubland, Noriko Miyake, Sophie Julia, Ingrid Scurr, Emmanuel Scalais, Diana S. Johnson, Elise Brischoux-Boucher, Melissa Byler, Lisa Bradley, Julie McGaughran, Siddharth Banka, Maria Gnazzo, Robert Roger Lebel, Stephanie Goh, Damien Lederer, Jane A. Hurst, Maria Cristina Digilio, Ineke van der Burgt, Nobuhiko Okamoto, Mohnish Suri, Víctor Faundes, Rhoda Akilapa, Harinder Gill, Hans T. Bjornsson, Edmond G. Lemire, Saskia Bulk, Katherine Lachlan, Han G. Brunner, Andrew E. Fry, Eric Gershon, Maria Lisa Dentici, Erina Sasaki, Valérie Benoit, Heidre Bezuidenhout, Natalie Canham, Naomichi Matsumoto, Angela F. Brady, Declan Cody, Meriel McEntagart, Seiji Mizuno, Francesca Romana Lepri
Publikováno v:
Web of Science
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
Contains fulltext : 237823.pdf (Publisher’s version ) (Open Access) PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf9501e03c8ad1cdd39bcc6f535c4fb
Autor:
Steven Jacobson, Joshua Rim, Robert Roger Lebel, Melissa Byler, Klaus Werner, Ariane Soldatos, Luigi Notarangelo, Emily Leibovitch, Mark Gorman
Publikováno v:
Neurology
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is an autoimmune condition caused by mutations in the Forkhead Box P3 ( FOXP3 ) gene, which maps to chromosome Xp11.23 (OMIM #304790).1 It typically presents within th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59e5155fc7e76198b9529a738e3e759
https://pubmed.ncbi.nlm.nih.gov/33168705
https://pubmed.ncbi.nlm.nih.gov/33168705
Autor:
Yue Si, Annelies Dheedene, Lindsay B. Henderson, Erika D'haenens, Sarah Vergult, Farah Kanani, Jennifer B. Humberson, Lindsay Rhodes, Richard H. van Jaarsveld, Melissa Byler, Bert Callewaert, Eva Jacobs, Arnaud Vanlander, Laurie H. Seaver, Ann Oostra, Kathleen Brown, Michael J. Parker, Renske Oegema, Robert Roger Lebel, Francisca Millan, Margarita Saenz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb63e07b85d0673b5934c4cdb5444170
https://doi.org/10.1111/cge.13874/v2/response1
https://doi.org/10.1111/cge.13874/v2/response1
Autor:
Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj
Publikováno v:
Science Advances
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We a
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074d
https://pubmed.ncbi.nlm.nih.gov/33268356
https://pubmed.ncbi.nlm.nih.gov/33268356
Autor:
Robert Roger Lebel, Angela Wratney, Mari Tokita, Melissa Byler, Ajay Rana, Kalliopi Petropoulou, Ai Sakonju, Shiphali Gupta, Leona Ramos
Publikováno v:
Molecular Genetics and Metabolism. 132:S73
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2e84755148424cebd7c971ff951142c
https://doi.org/10.1016/s1096-7192(21)00191-8
https://doi.org/10.1016/s1096-7192(21)00191-8
Autor:
Melissa Byler, Robert Roger Lebel
Publikováno v:
Seminars in reproductive medicine. 31(4)
Male-factor infertility is the cause of reproductive issues in many couples. For approximately 15% of these men, the origin of the infertility is genetic. These causes include both chromosomal and single-gene disorders frequently impacting spermatoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce4bc1de1ad3737b069fb59fff3dc05
https://pubmed.ncbi.nlm.nih.gov/23775381
https://pubmed.ncbi.nlm.nih.gov/23775381