Kamu erişimi zorunlu olan makaleler - Stephanie L. ShermanDaha fazla bilgi edinin
Hiçbir yerde sunulmuyor: 5
Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation: Expected Phenotype Based on Current Knowledge of Fragile X–Associated Primary Ovarian Insufficiency
JJ De Caro, C Dominguez, SL Sherman
Annals of the New York Academy of Sciences 1135 (1), 99-111, 2008
Zorunlu olanlar: Howard Hughes Medical Institute
Clinical manifestation and management of FXPOI
SL Sherman, EG Allen, JB Spencer, LM Nelson
FXTAS, FXPOI, and Other Premutation Disorders, 199-224, 2016
Zorunlu olanlar: US National Institutes of Health
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21
JM Chernus, SL Sherman, E Feingold
Prenatal Diagnosis 41 (5), 591-609, 2021
Zorunlu olanlar: US National Institutes of Health
Model systems for understanding FXPOI
K Usdin, RK Hukema, SL Sherman
FXTAS, FXPOI, and Other Premutation Disorders, 225-240, 2016
Zorunlu olanlar: US National Institutes of Health
Laura del Hoyo Soriano1Ε, Tracie Rosser2, Debra Hamilton2, Taylor Wood1
L Abbeduto, S Sherman
Scientific Reports 10, 20345, 2020
Zorunlu olanlar: US National Institutes of Health
Bir yerde sunuluyor: 113
Down syndrome
SE Antonarakis, BG Skotko, MS Rafii, A Strydom, SE Pape, DW Bianchi, ...
Nature Reviews Disease Primers 6 (1), 9, 2020
Zorunlu olanlar: Swiss National Science Foundation, US National Institutes of Health, UK …
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
B Coffee, K Keith, I Albizua, T Malone, J Mowrey, SL Sherman, ST Warren
The American Journal of Human Genetics 85 (4), 503-514, 2009
Zorunlu olanlar: US National Institutes of Health
Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment
WE Kaufmann, SA Kidd, HF Andrews, DB Budimirovic, A Esler, ...
Pediatrics 139 (Supplement_3), S194-S206, 2017
Zorunlu olanlar: US National Institutes of Health
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects
EG Allen, SB Freeman, C Druschel, CA Hobbs, LA O’Leary, PA Romitti, ...
Human genetics 125, 41-52, 2009
Zorunlu olanlar: US National Institutes of Health
Development and validation of the Arizona Cognitive Test Battery for Down syndrome
JO Edgin, GM Mason, MJ Allman, GT Capone, I DeLeon, C Maslen, ...
Journal of neurodevelopmental disorders 2, 149-164, 2010
Zorunlu olanlar: US National Institutes of Health
Genetic analysis of variation in human meiotic recombination
R Chowdhury, PRJ Bois, E Feingold, SL Sherman, VG Cheung
PLoS genetics 5 (9), e1000648, 2009
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Associated features in females with an FMR1 premutation
AC Wheeler, DB Bailey Jr, E Berry-Kravis, J Greenberg, M Losh, M Mailick, ...
Journal of neurodevelopmental disorders 6, 1-14, 2014
Zorunlu olanlar: US National Institutes of Health, Government of Spain
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects
SB Freeman, CP Torfs, PA Romitti, MH Royle, C Druschel, CA Hobbs, ...
Clinical genetics 75 (2), 180-184, 2009
Zorunlu olanlar: US National Institutes of Health
Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles
SL Nolin, S Sah, A Glicksman, SL Sherman, E Allen, E Berry‐Kravis, ...
American Journal of Medical Genetics Part A 161 (4), 771-778, 2013
Zorunlu olanlar: US National Institutes of Health
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects
C Ackerman, AE Locke, E Feingold, B Reshey, K Espana, J Thusberg, ...
The American Journal of Human Genetics 91 (4), 646-659, 2012
Zorunlu olanlar: US National Institutes of Health
Germline mutation of microRNA-125a is associated with breast cancer
W Li, R Duan, F Kooy, SL Sherman, W Zhou, P Jin
Journal of medical genetics 46 (5), 358-360, 2009
Zorunlu olanlar: US National Institutes of Health
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study
J Rohr, EG Allen, K Charen, J Giles, W He, C Dominguez, SL Sherman
Human Reproduction 23 (5), 1220-1225, 2008
Zorunlu olanlar: US National Institutes of Health
Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey
A Hüls, ACS Costa, M Dierssen, RA Baksh, S Bargagna, NT Baumer, ...
EClinicalMedicine 33, 2021
Zorunlu olanlar: US National Institutes of Health, UK Medical Research Council, National …
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
C Lu, L Lin, H Tan, H Wu, SL Sherman, F Gao, P Jin, D Chen
Human molecular genetics 21 (23), 5039-5047, 2012
Zorunlu olanlar: US National Institutes of Health
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome
AE Locke, KJ Dooley, SW Tinker, SY Cheong, E Feingold, EG Allen, ...
Genetic epidemiology 34 (6), 613-623, 2010
Zorunlu olanlar: US National Institutes of Health
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