Bibliotecas PUC-SP - Busca Integrada

P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder

Kate Richardson, Hope Northrup
Հրատարակված է Genetics in Medicine Open (2024-01-01)

P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion

Kathleen Shields, Hope Northrup
Հրատարակված է Genetics in Medicine Open (2023-01-01)

P451: New familial variant identified in CSDE1-associated neurodevelopmental disorder

Jessica Bolen, Kate Richardson, Hope Northrup
Հրատարակված է Genetics in Medicine Open (2025-01-01)

Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex

Kate Mowrey, Hope Northrup, Syed Shahrukh Hashmi, David Rodriguez-Buritica
Հրատարակված է Frontiers in Reproductive Health (2022-02-01)

P278: Triple diagnoses with overlapping phenotypes: Recommendations and reflections

Kate Richardson, Hope Northrup, S. Nicholas Russo, John Giang, Jenny Do
Հրատարակված է Genetics in Medicine Open (2023-01-01)

P502: Unpacking genotype-phenotype correlation in DNM1 encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains

Caroline Crain, Kate Richardson, Hope Northrup, Gretchen Von Allmen, Kathleen Shields, Sureni Mullegama
Հրատարակված է Genetics in Medicine Open (2025-01-01)

Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A. Mosquera, Shade Moody, Aravind Yadav
Հրատարակված է Case Reports in Pediatrics (2018-01-01)

Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Anjali Aggarwal, Hope Northrup, David F. Rodriguez-Buritica, S. Shahrukh Hashmi, Heather Saavedra
Հրատարակված է Journal of Inborn Errors of Metabolism and Screening (2021-10-01)

Identification of a novel microdeletion causative of Nance‐Horan syndrome

Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey
Հրատարակված է Molecular Genetics & Genomic Medicine (2022-03-01)

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup
Հրատարակված է Molecular Genetics & Genomic Medicine (2020-07-01)

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach
Հրատարակված է JIMD Reports (2023-11-01)

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au
Հրատարակված է Molecular Genetics & Genomic Medicine (2020-11-01)

Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

Catherine J Spellicy, Hope Northrup, Jack M Fletcher, Paul T Cirino, Maureen Dennis, Alanna C Morrison, Carla A Martinez, Kit Sing Au
Հրատարակված է PLoS ONE (2012-01-01)

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Luke Hebert, Paul Hillman, Craig Baker, Michael Brown, Allison Ashley-Koch, James E Hixson, Alanna C Morrison, Hope Northrup, Kit Sing Au
Հրատարակված է PLoS ONE (2020-01-01)

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes

Edwin Ferren, Paul R. Hillman, Amy Kritzer, Joseph Ray, Alvaro Serrano, Hope Northrup, Paige Roberts, Rana Dutta, Tiziano Pramparo, Pamela Vig, Robert D. Steiner
Հրատարակված է Orphanet Journal of Rare Diseases (2025-07-01)

P017: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): Real-world patient outcomes

Edwin Ferren, Paul Hillman, Amy Kritzer, Joseph Ray, Alvaro Serrano Russi, Hope Northrup, Paige Roberts, Rana Dutta, Tiziano Pramparo, Jolan Terner-Rosenthal, Pamela Vig, Robert Steiner
Հրատարակված է Genetics in Medicine Open (2025-01-01)

Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial

John M. Slopis, Octavio Arevalo, Cynthia S. Bell, Adelaide A. Hebert, Hope Northrup, Roy F. Riascos, Joshua A. Samuels, Keri C. Smith, Patti Tate, Mary Kay Koenig
Հրատարակված է Drugs in R&D (2018-10-01)

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.

Iván Sánchez Fernández, Edward Yang, Paola Calvachi, Marta Amengual-Gual, Joyce Y Wu, Darcy Krueger, Hope Northrup, Martina E Bebin, Mustafa Sahin, Kun-Hsing Yu, Jurriaan M Peters, TACERN Study Group
Հրատարակված է PLoS ONE (2020-01-01)

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

Hongyu Luo, Linjiang Lao, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie-Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu
Հրատարակված է Genome Biology (2024-01-01)

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton
Հրատարակված է Molecular Genetics and Metabolism Reports (2024-06-01)