Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Urvashi Surti"'
Autor:
Angela Verdoni, Michele Clemens, Rebecca Clark, Melanie Babcock, Aleksandar Rajkovic, Sarah Drewes, Leslie Walsh, Joe Sanfilippo, Elizabeth Sheehan, Devereux N. Saller, Urvashi Surti, Svetlana A. Yatsenko, Sunita Katari, Jie Hu
Publikováno v:
Genetics in Medicine. 23:1753-1760
Patients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based on karyotypes found among the products of conception (POC), although fact
Publikováno v:
Journal of Medical Genetics. 59:568-570
Recurrent miscarriage (RM) is defined by the occurrence of at least two pregnancy losses prior to 22 weeks of gestation and affects up to 5% of couples trying to conceive.1–3 RM has a significant emotional impact on couples and the repetitive natur
Autor:
Marjolaine Arnaud, Philippe Sauthier, Nawel Mechtouf, Felicia Lazure, William Buckett, Jocelyne Arseneau, Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Richard K.J. Brown, Asangla Ao, Karine Hovanes, Fabrice Peers, Monica Aguinaga, Lori Hoffner, Neil S. Horowitz, Liane Tan, Kurosh Rahimi, Brigitte M. Ronnett, Basam Abu Rafea, Seang Lin Tan, Trilochan Sahoo, Rima Slim, Magali Breguet, Urvashi Surti
Publikováno v:
Modern Pathology. 33:880-892
Hydatidiform mole (HM) is an aberrant human pregnancy characterized by excessive trophoblastic proliferation and abnormal embryonic development. HM has two morphological types, complete (CHM) and partial (PHM), and non-recurrent ones have three genot
Autor:
Keith A. Coffman, Urvashi Surti, Suneeta Madan-Khetarpal, Rocio Moran, Malini Sathanoori, Quasar S Padiath, Lori Hoffner, Neil R. Friedman, Allison Schreiber, Jie Hu, Svetlana A. Yatsenko, Joseph Locker, Robyn A. Filipink, Aleksandar Rajkovic, Jun Liao, Marianne McGuire, Bruce Nmezi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogeni
Autor:
Suneeta Madan-Khetarpal, Aleksandar Rajkovic, Mahmoud Aarabi, Svetlana A. Yatsenko, Elena Kessler, Urvashi Surti, Daniel B. Bellissimo
Publikováno v:
European Journal of Medical Genetics. 62:239-242
Proper function of GABAergic synapses depends upon the postsynaptic compartment anchoring of neurotransmitter receptors to the membrane by gephyrin and collybistin (Cb). In humans, Cb is encoded by ARHGEF9 on Xq11.1. ARHGEF9 alterations, some inherit
Autor:
Jeffrey F. Bonadio, Lori Hoffner, Urvashi Surti, Svetlana A. Yatsenko, Rosemary A. Fisher, Nancy B. Spinner, W. Tony Parks, Laura K. Conlin, Jason C. Carson
Publikováno v:
American Journal of Medical Genetics Part A. 176:2720-2732
Triploidy is the presence of an extra haploid set of chromosomes and can exist in complete or mosaic form. The extra haploid set of chromosomes in triploid cells can be of maternal or paternal origin. Diploid/triploid mixoploidy is a unique form of t
Autor:
Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield
Publikováno v:
Genetics, vol 217, iss 2
Genetics
Genetics
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to structural variation in the general population as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4e
https://escholarship.org/uc/item/15562671
https://escholarship.org/uc/item/15562671
Autor:
Philip C. Dishuck, Karen H. Miga, Leonardo G. de Lima, Glennis A. Logsdon, Mario Ventura, Katherine M. Munson, Sergey Koren, Mikhail Liskovykh, Evan E. Eichler, Sergey Nurk, Tina A. Graves-Lindsay, Chirag Jain, Andrey Bzikadze, Tatiana Dvorkina, Alexandra M. Lewis, William T. Harvey, Kendra Hoekzema, Arang Rhie, Carl Baker, Jennifer L. Gerton, Ludovica Mercuri, Shwetha C. Murali, Yafei Mao, David Porubsky, Vladimir Larionov, Adam M. Phillippy, Mitchell R. Vollger, Melanie Sorensen, Alla Mikheenko, PingHsun Hsieh, Milinn Kremitzki, Urvashi Surti
Publikováno v:
Nature
The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the
Autor:
David Porubsky, Gulhan Kaya, Ruta Sahasrabudhe, James C. Mullikin, Joel Armstrong, Amy B. Wilfert, Jonathan Wood, Edmund Howe, Ariel Gershman, Amalia Dutra, Jon Matthew Belton, Alexander M. Chang, Karen H. Miga, Valerie A. Schneider, Adam M. Phillippy, Alice Young, Andrey Bzikadze, Tamara A. Potapova, Rosa Ana Risques, Anthony D. Schmitt, Tina A. Graves Lindsay, Gerard G. Bouffard, Nancy F. Hansen, Benedict Paten, Josh Quick, Ira M. Hall, Glennis A. Logsdon, Sergey Koren, Kristof Tigyi, Nadine Holmes, Daniela C. Soto, Beth A. Sullivan, Jeanne Fredrickson, Robert S. Fulton, Siddarth Selvaraj, Milinn Kremitzki, Winston Timp, Nicholas J. Loman, Arang Rhie, Evan E. Eichler, Megan Y. Dennis, Kerstin Howe, Jennifer L. Gerton, Urvashi Surti, Valerie Maduro, Christopher Markovic, Pavel A. Pevzner, Françoise Thibaud-Nissen, William Chow, Shelise Brooks, Evgenia Pak, Matthew Loose, Mitchell R. Vollger
Publikováno v:
Nature, vol 585, iss 7823
Nature
Nature
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist1,2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b763e6dc69f68a2c414f6d2d8a9e4a86
https://escholarship.org/uc/item/88w7j3n7
https://escholarship.org/uc/item/88w7j3n7
Autor:
Jie Hu, Suneeta Madan-Khetarpal, Devereux N. Saller, Daniel B. Bellissimo, Mahmoud Aarabi, Damara Ortiz, Urvashi Surti, Aleksandar Rajkovic, Svetlana A. Yatsenko
Publikováno v:
Clinical geneticsREFERENCES. 98(6)
In clinical exome/genome sequencing, the American College of Medical Genetics and Genomics (ACMG) recommends reporting of secondary findings unrelated to a patient's phenotype when pathogenic single-nucleotide variants (SNVs) are observed in one of 5