Bibliotecas PUC-SP - Busca Integrada

Pregnancy in 3M syndrome

著者: Maria C. Cusimano, David Chitayat, Marie Injeyan, Michael Geary
出版年 Journal of Obstetrics and Gynaecology (2018-04-01)

Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy

著者: Shiri Shinar, Parry Balakumar, Vibhuti Shah, Karen Chong, Tami Uster, David Chitayat
出版年 American Journal of Perinatology Reports (2020-07-01)

Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells

著者: Phetcharawan Lye, Enrrico Bloise, Guinever E. Imperio, David Chitayat, Stephen G. Matthews
出版年 Cells (2022-07-01)

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

著者: Yiming Wang, Joanna Lazier, Diane Myles‐Reid, Abdul Noor, David Chitayat, Elena Greenfeld
出版年 Clinical Case Reports (2023-04-01)

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities

著者: Gabriele Tonni, Mario Lituania, David Chitayat, Maria Paola Bonasoni, Sarah Keating, Megan Thompson, Patrick Shannon
出版年 Taiwanese Journal of Obstetrics & Gynecology (2014-12-01)

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR

著者: Shirley Shuster, Ghada Ankawi, Christoph Licht, Jochen Reiser, Xuexiang Wang, Changli Wei, David Chitayat, Michelle Hladunewich
出版年 Journal of Clinical Medicine (2018-10-01)

Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 2...

著者: Simina Bogatan, Andrea Shugar, Syed Wasim, Susan Ball, Cathryn Schmidt, David Chitayat, Cheryl Shuman, Cheryl Cytrynbaum
出版年 PEC Innovation (2023-12-01)

P812: Multiple fetal anomalies suggest a role for CDK20 in human ciliopathies

著者: Karen Chong, David Chitayat, Greg Ryan, Rory Windrim, Patrick Shannon, William Parks, Claire Botsford, Tami Uster
出版年 Genetics in Medicine Open (2024-01-01)

Parental Preferences for Expanded Newborn Screening: What Are the Limits?

著者: Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, Robin Z. Hayeems
出版年 Children (2023-08-01)

P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity

著者: Michael Mackley, Rachel Silver, Nicholas Watkins, Elena Greenfeld, Sarah Redmond, Hui Jue Zhang, Maian Roifman, David Chitayat
出版年 Genetics in Medicine Open (2024-01-01)

P782: Validation of low-pass genome sequencing for prenatal diagnosis

著者: Chloe Mighton, Abdul Noor, Nicholas Watkins, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Andrew Wong, Nina Anggala, David Chitayat, Elena Greenfeld
出版年 Genetics in Medicine Open (2024-01-01)

P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies

著者: Ariel Gershon, Tanvi Anandampillai, Maahil Arshad, Nicole Martin, James Stavropoulos, Abdul Noor, Elena Greenfeld, Karen Chong, David Chitayat, Stephen Meyn, Yiming Wang
出版年 Genetics in Medicine Open (2024-01-01)

P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing

著者: Lucia Guidugli, Monia Hammer, Bryant Cao, Joseph Shen, Daniel Rito, Claire Botsford, David Chitayat, Jerica Lenberg, Kristen Wigby, Kelly Watkins, Stephen Kingsmore, Mari Tokita
出版年 Genetics in Medicine Open (2024-01-01)

Decreased numbers of dense granules in fetal and neonatal platelets

著者: Denisa Urban, Fred G. Pluthero, Hilary Christensen, Shoma Baidya, Margaret L. Rand, Animitra Das, Prakeshkumar S. Shah, David Chitayat, Victor S. Blanchette, Walter H.A. Kahr
出版年 Haematologica (2017-02-01)

P836: Defining and measuring the value of genetic testing: Developing the patient-reported genetic testing utility index (P-GUIDE) for prenatal care

著者: Stephanie Luca, Daniel Assamad, Yueyin Xia, Elise Poole, Joyce Yan, Bowen Xiao, Rachel Silver, Melissa Maio, Claire Newman, Ronni Teitelbaum, David Chitayat, Stacy Hewson, Wendy Ungar, Robin Hayeems
出版年 Genetics in Medicine Open (2025-01-01)

MGA-related syndrome: A proposed novel disorder

著者: Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka
出版年 HGG Advances (2025-01-01)

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos

著者: Olivia M. Moran, M.Sc., Kayla Flamenbaum, M.S., Diane Myles Reid, M.S., Jeanna M. McCuaig, Ph.D., Riyana Babul-Hirji, M.Sc., David Chitayat, M.D., Maian Roifman, M.D.
出版年 F&S Reports (2023-12-01)

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary

著者: Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise
出版年 Cellular and Molecular Gastroenterology and Hepatology (2015-07-01)

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

著者: Jeremy L Praissman, Tobias Willer, M Osman Sheikh, Ants Toi, David Chitayat, Yung-Yao Lin, Hane Lee, Stephanie H Stalnaker, Shuo Wang, Pradeep Kumar Prabhakar, Stanley F Nelson, Derek L Stemple, Steven A Moore, Kelley W Moremen, Kevin P Campbell, Lance Wells
出版年 eLife (2016-04-01)

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

著者: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
出版年 BMC Medical Genomics (2019-07-01)