Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Christina Botti"'
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Bialle
Externí odkaz:
https://doaj.org/article/3d76d2994eb047f0ad64d852c2508e7e
Autor:
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin Dawn Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami Abou Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal Mohammad Khouj, Javeria Raza Alvi, Tipu Sulta, Narges Hashemi, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Publikováno v:
Genetics in Medicine. :100885
PURPOSE Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy (DEE) with early-onset seizures and severe intellectual disability. METHODS By international collaboration we assembled indivi
Publikováno v:
Genetics in Medicine. 24:S57-S58
Publikováno v:
Genetics in Medicine. 24:S265
Autor:
Ulrike Hueffmeier, Cornelia Kraus, Miriam Reuter, Steffen Uebe, Mary-Alice Abbott, Syed Ahmed, Kristyn Rawson, Eileen Barr, Hong Li, ange-line bruel, Laurence Faivre, Frederic Tran Mau Them, Christina Botti, Susan Brooks, Kaitlyn Burns, Isum Ward, Marina Dutra-Clarke, Julian Martinez-Agosto, Hane Lee, Stanley Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie MacGaughran, Juergen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Rothschild, Maria Guillen Sacoto, Lindsay Henderson, Timothy Palculict, Sureni Mullegama, Houda Elloumi, Adi Reich, Samantha Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a3012b08b39e8a11e46330ffe77c2a4
https://doi.org/10.22541/au.160253804.44054844/v1
https://doi.org/10.22541/au.160253804.44054844/v1
Publikováno v:
Molecular Genetics and Metabolism. 132:S171
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Autor:
Vidya Krishnamurthy, Orly Elpeleg, Kristin G. Monaghan, Aida Telegrafi, Marcia C. Willing, Yufeng Shen, Tomi L. Toler, Kyle Retterer, Wendy K. Chung, Jennifer M. Bain, Susan Sklower Brooks, Ashley Wilson, Gordon C. Gowans, Bruria Ben-Zev, Leigh Anne Autullo, Christina Botti, Megan T. Cho
Publikováno v:
The American Journal of Human Genetics. 99:728-734
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious
Autor:
Sharon Anderson, Christina Botti
Publikováno v:
Journal of pediatric health care : official publication of National Association of Pediatric Nurse AssociatesPractitioners. 33(5)
The exponential rate at which genetic testing has been integrated into routine and high-risk obstetric care has been exciting to watch. With this technical explosion, however, the knowledge surrounding the benefits and limitations of prenatal genetic
Autor:
Kenya Cabrera, Christina Botti, Surasak Puvabanditsin, Rajeev Mehta, Marianne Jacob, Maaz Jalil, Natalie Gengel
Publikováno v:
Molecular syndromology. 9(6)
We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of t