Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Heather M, Byers"'
Autor:
Christina G. Tise MD, PhD, Dena R. Matalon MD, Melanie A. Manning MD, Heather M. Byers MD, Monica Grover MBBS
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)
Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and di
Externí odkaz:
https://doaj.org/article/ba92ac4751da43b1b5235d1e07e9f189
Autor:
Mais Hashem, Jonathan A. Bernstein, Carlos Frederico Martins Menck, Brandon J. Willis, Aziza Chedrawi, Heather M. Byers, Matthew T. Wheeler, Arne Jahn, Danyllo Oliveira, João Paulo Kitajima, Fowzan S. Alkuraya, Lynette Bower, Elizabeth Spiteri, Fabíola Paoli Monteiro, Mayana Zatz, Hessa S. Alsaif, Brian C. Leonard, Uirá Souto Melo, Nataliya Di Donato, Devon Bonner, Ala Moshiri, Fernando Kok, Louise Lanoue, Kevin Dumas, Kevin C K Lloyd, Fernando Ribeiro Gomes, Felipe de Souza Leite, Davi Jardim Martins
Publikováno v:
GENETICS IN MEDICINE
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Purpose To identify novel genes associated with intellectual disability (ID) in four unrelated families. Methods Here, through exome sequencing and international collaboration, we report eight individuals from four unrelated families of diverse geogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341f8579d570115f2ad5f6922f70ce3a
https://doi.org/10.1038/s41436-020-01047-z
https://doi.org/10.1038/s41436-020-01047-z
Publikováno v:
Journal of Pediatric Urology. 16:760-767
A multidisciplinary DSD clinic offers the opportunity for different specialties to learn from each other, as each provides their own perspective and expertise to the management of these complex patients, leading to collaborative care. For the patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb2d695836e28b241c25a9e8bf35822
https://doi.org/10.1016/j.jpurol.2020.08.015
https://doi.org/10.1016/j.jpurol.2020.08.015
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
Autor:
Christina G. Tise, Heather M. Byers
Publikováno v:
Current opinion in obstetricsgynecology. 33(2)
PURPOSE OF REVIEW Human reproduction is remarkably inefficient; with pregnancy loss occurring in 10-30% of clinically recognized pregnancies. Of those, 3-5% of couples experience recurrent pregnancy loss (RPL), more than 50% of who never receive an u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10866ad7453a75bcdfcdcaf1fc56ce5d
https://pubmed.ncbi.nlm.nih.gov/33605623
https://pubmed.ncbi.nlm.nih.gov/33605623
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
In the midst of the COVID‐19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7754e3e018256b9cbb5a29e1c17bff
Autor:
Karen D. Tsuchiya, Margaret P. Adam, Edith Y. Chang, Erin S. Oehler, Whitney Neufeld-Kaiser, Heather M. Byers
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association
Objective: Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA) to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to assess genotypic sex. Most pediatricians have limited famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3197f6e4917b0d787f3ba38bbc7199
https://doi.org/10.1038/s41372-018-0278-5
https://doi.org/10.1038/s41372-018-0278-5
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:374-378
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by hamartomatous growths in the brain, kidneys, lungs, skin, heart, and retina. TSC is caused by loss of function mutations in one of two tumor suppressor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b65b35d923c9dea0c70eff509dc51099
https://doi.org/10.1002/ajmg.c.31656
https://doi.org/10.1002/ajmg.c.31656
Autor:
Michael J. Gambello, Matthew B. Wallenstein, Rani H. Singh, David Dimmock, Silvia Tortorelli, Hong Li, Ryan M. Farrell, Miriam B. Vos, Shawn E. McCandless, Patricia L. Hall, Meredith W Allain, Alicia Diaz-Kuan, Heather M. Byers
Publikováno v:
Molecular Genetics and Metabolism. 123:428-432
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::133191e670c3cea7f6e3719c158d9884
https://doi.org/10.1016/j.ymgme.2018.02.016
https://doi.org/10.1016/j.ymgme.2018.02.016
Autor:
Lauren Mohnach, John M. Park, Margarett Shnorhavorian, Patricia Y. Fechner, Linda Ramsdell, Ming Chen, Catherine E. Keegan, Elizabeth McCauley, Margaret P. Adam, Heather M. Byers, Anne Marie E. Amies Oelschlager, David E. Sandberg, Inas H. Thomas
Publikováno v:
Journal of Urology. 200:685-687
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf65912fd58c9997082c51b16ed0038
https://doi.org/10.1016/j.juro.2018.07.005
https://doi.org/10.1016/j.juro.2018.07.005