Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Mark E Nunes"'
Autor:
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael, Kaylee M. Ruiz, Christine Miller, Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest, Mark E. Nunes, Richard Sidlow, Yaron Einhorn, Jeremy Woods
Introduction Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Methods Genetic variants from all genetic testing resulting to a large pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8a9d31c97a483ce7104ee438711291f
https://doi.org/10.21203/rs.3.rs-2913380/v1
https://doi.org/10.21203/rs.3.rs-2913380/v1
Autor:
Deepali N. Shinde, Elizabeth C. Chao, Kelly Radtke, Sitao Wu, Zöe Powis, Mari Rossi, Shuwei Li, Katherine L. Helbig, Samin A. Sajan, Cameron Mroske, Hsiao-Mei Lu, Mark E. Nunes, Kelly D. Farwell Hagman, Sha Tang, Wendy Alcaraz, Dima El-Khechen, Layla Shahmirzadi, Robert Huether, Erica D. Smith
Publikováno v:
Genetics in Medicine. 19:224-235
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4a10372d0a09aee19cef830739f4a8f
https://doi.org/10.1038/gim.2016.95
https://doi.org/10.1038/gim.2016.95
Autor:
Priya S. Kishnani, Howard M. Saal, Paul Harmatz, Paul Arundel, Kathryn Dahir, Lothar Seefried, Nick Bishop, Agnès Linglart, William D. Fraser, Eric T. Rush, Mark E. Nunes, Craig F Munns, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2890d2122162cbe4b035c2c41272437b
https://ueaeprints.uea.ac.uk/id/eprint/64302/
https://ueaeprints.uea.ac.uk/id/eprint/64302/
Autor:
Glenn Palomaki, Umut Aypar, Laura Otto, Katie Stoll, Cassandra K. Runke, W. Edward Highsmith, Myra J. Wick, Marsha Michie, Richard R. Sharp, Natasha Bonhomme, Sandra Darilek, Megan Allyse, Rebecca Pabst, Mark E. Nunes, Ruth M. Farrell, Wayne W. Grody, Brian G. Skotko, Michael J. Dougherty
Publikováno v:
Journal of women's health (2002). 26(7)
Aims: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice. Results: During the 2-day symposium, participants discussed the implications of the sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3dae1067b3ecd5ae38c5b12b104065
https://pubmed.ncbi.nlm.nih.gov/28388340
https://pubmed.ncbi.nlm.nih.gov/28388340
Autor:
Jean-Louis Serre, Mark E Nunes, Boris Utsch, Isabelle Brun-Heath, Etienne Mornet, Agnès Taillandier, Anne-Sophie Lia-Baldini, Stéphane Maillard
Publikováno v:
European Journal of Medical Genetics. 50:367-378
Hypophosphatasia is a rare genetic disease characterized by diminished bone and tooth mineralization due to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). The disease is clinically heterogeneous due to different mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3088b07ed220c65c29718669af196412
https://doi.org/10.1016/j.ejmg.2007.06.005
https://doi.org/10.1016/j.ejmg.2007.06.005
Publikováno v:
American Journal of Obstetrics and Gynecology. 192:527-534
Objective The purpose of this study was to assess the outcome of the type of prescreening counseling on choices for prenatal cystic fibrosis screening. Study design From October 2001 to November 2002, regardless of ethnicity, all prenatal patients (n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130d94d83509312e5ed2403d5c637632
https://doi.org/10.1016/j.ajog.2004.07.028
https://doi.org/10.1016/j.ajog.2004.07.028
Publikováno v:
Teratology. 56:262-270
Dactylaplasia, or Dac, was recently mapped to the distal portion of mouse chromosome 19 and shown to be inherited as an autosomal semi-dominant trait characterized by missing central digital rays. The most common locus for human split hand split foot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0c06da58700116a573d4ff79f36f9e3
https://doi.org/10.1002/(sici)1096-9926(199710)56:4<262::aid-tera5>3.0.co
https://doi.org/10.1002/(sici)1096-9926(199710)56:4<262::aid-tera5>3.0.co
Autor:
Karen Mehalek, Candace Nehlsen, Cherie Rao, Mark E. Nunes, Raoul J. Burchette, Julian Bendelstein, Amy Thomas, Dolores H. Pretorius, Marcos Gonzales, Denis J. Levy, Abraham Rothman, Mark Sklansky, Jessica Ehr
Publikováno v:
Pediatric cardiology. 34(3)
The reported prenatal detection rates (PDRs) for significant congenital heart disease (sCHD) have been suboptimal, even in the current era. Changes in prenatal ultrasound policy and training may lead to improved prenatal detection of sCHD. This study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eca375994456c4f1ea5a6a6c8bf9497
https://pubmed.ncbi.nlm.nih.gov/23117330
https://pubmed.ncbi.nlm.nih.gov/23117330
Publikováno v:
British journal of haematology. 144(2)
Summary Ehlers-Danlos Syndrome (EDS) is caused by heritable collagen defects and may be associated with bleeding symptoms. Desmopressin has been described in case reports to decrease bleeding times in these patients. This study sought to assess bleed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee384e78e0a8d19a6b708bf1e9dee5a
https://pubmed.ncbi.nlm.nih.gov/19036109
https://pubmed.ncbi.nlm.nih.gov/19036109
Autor:
B. Simon-Bouy, Claire Carrion, Etienne Mornet, Mark E Nunes, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, J.L. Serre
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2008, 123 (4), pp.429-32. ⟨10.1007/s00439-008-0480-1⟩
Human Genetics, Springer Verlag, 2008, 123 (4), pp.429-32. ⟨10.1007/s00439-008-0480-1⟩
International audience; The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because the disease can be dominantly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb3f7ddd54d3ddd55978ba19a0d4268
https://hal-unilim.archives-ouvertes.fr/hal-00651340
https://hal-unilim.archives-ouvertes.fr/hal-00651340