Results 111 to 120 of about 1,245,890 (249)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2320-2330, October 2026.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management

JIMD Reports
Innovative treatments have allowed the introduction of conditions such as lysosomal storage disorders (LSDs) to newborn screening (NBS). This study explored the challenges healthcare providers faced with the addition of LSDs to NBS and identified ...
A. Terrell, K. Sapp, B. Graham, M. McPheron, L. Wetherill   +4 more
doaj   +1 more source

Expanded newborn screening in Texas : a cost-effectiveness analysis using Markov modeling [PDF]

, 2009
textTexas House Bill 790 resulted in the expansion of the newborn screening panel from 7 to 27 disorders. The long-term economic implications of this expansion have not been studied.
Tiwana, Simrandeep Kaur
core  

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

, 2012
PURPOSE: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program.
Wheeler, Patricia G., Dorkin, Henry L., Smith, Rosemarie, Bianchi, Diana W., Parad, Richard B., Comeau, Anne Marie   +5 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1866-1877, September 2026.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

A Multi-Voting Enhancement for Newborn Screening Healthcare Information System

, 2011
The clinical symptoms of metabolic disorders during neonatal period are often not apparent. If not treated early, irreversible damages such as mental retardation may occur, even death.
謝嵩淮;鄭伯壎;陳啓煌;黃國軒;翁永卿;謝筱齡;賴飛羆, HSIEH, SUNG-HUAI;CHENG, PO-HSUN;CHEN, CHI- HUANG;HUANG, KUO-HSUAN;WENG, YUNG-CHING;HSIEH, SHEAU-LING;LAI, FEIPEI   +1 more
core   +1 more source

Identification of a Nonribosomal Peptide Analog With Activity Against Multiple Gram‐Positive Bacteria via a Synthetic Bioinformatic Natural Product Discovery Approach

Advanced Science, Volume 13, Issue 50, 7 September 2026.
The genome of Rhodococcus erythropolis D‐1 was analyzed by bioinformatic tools to mine a novel nonribosomal peptide synthetase (NRPS) gene cluster. A nonribosomal peptide analog ZURJC5 associated with the NRPS was chemically synthesized. Through structure‐activity relationship studies, ZURJC28 was ultimately obtained and showed antibacterial activity ...
Keyi Chen, Jiayi Liang, Yujia Wu, Jianan Xu, Yi Liu, Wenguang Wang, Xinhang Jiang, Benjie Gao, Yueyue Wang, Hui Jiang   +9 more
wiley   +1 more source

Different algorithms for CF newborn screening (NBS): a retrospective evaluation

Journal of Cystic Fibrosis, 2010
Corbetta, C., Zani, G., Mariani, T., Sangiovanni, M., Seia, M., Padoan, R.F.   +5 more
openaire   +2 more sources

Charter of the Kansas Advisory Council on Newborn Screening. [2011]

, 2011
"Effective Date: May 15, 2008. Revision Date: August 18, 2011.""The Kansas Advisory Council on Newborn Screening (KACNS, sometimes referred to as “KACNS” or the “Council”) was established under amendments to KSA 65-180 in 2007 by the ...
Kansas Advisory Council on Newborn Screening.
core   +1 more source

Effect of Excluding Non-Patient Benefits As An Element On Acmg Newborn Screening (Nbs) Recommendations [PDF]

Value in Health, 2014
Mahida, S., Algarni, M., Rittenhouse, B.
openaire   +3 more sources