Results 121 to 130 of about 1,245,890 (249)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Extracellular matrix remodeling upregulates hippocampal neurogenic niche stiffness and impairs neurogenesis in Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Abstract INTRODUCTION Preserving adult hippocampal neurogenesis alleviates cognitive deficits in Alzheimer's disease (AD), yet how biophysical alterations in such as stiffness in the neurogenic niche regulate neurogenesis remains unclear. METHODS Stiffness in the hippocampal dentate gyrus subgranular cell zone (SGZ) of 5×FAD mice was measured using ...
Weiqi Sun, Biyu Yang, Hanyuan Zheng, Qi Wang, Yajiao Shi, Gandig Wang, Wang Yin, Hui Wang, Xuetao Qi, Yun Yao, Jiaxin Wang, Shuang Cui, Kun Cui, Jian Mao, Yiyuan Xia, Jianwen Deng, Siyuan Zhao, Zhihao Wang, Fengyu Liu, Ming Yi, Jiuyang Ding, Weidong Le, Xinyan Li, Junliang Yuan, You Wan, Jie Zheng   +25 more
wiley   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, Volume 100, Issue 3, Page 584-599, September 2026.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Pregnancy‐related effect on elexacaftor, tezacaftor and ivacaftor pharmacokinetics in women with cystic fibrosis

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3202-3213, September 2026.
Aim The number of pregnancies among women with cystic fibrosis (wwCF) has steadily increased over the past decade. However, the pharmacokinetics (PK) of elexacaftor–tezacaftor–ivacaftor (ETI) during gestation remains uncharacterized, despite its widespread use in this population.
Paulette Magnas, Naim Bouazza, Frantz Foissac, Saïk Urien, Léo Froelicher‐Bournaud, Gabrielle Lui, Victoria Guillemart, Nicolas Carlier, Jennifer Da Silva, Johanna Fesenbeckh, Reem Kanaan, Isabelle Honoré, Clémence Martin, Jean‐Marc Treluyer, Vassilis Tsatsaris, Pierre‐Régis Burgel, Sihem Benaboud   +16 more
wiley   +1 more source

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study

BMJ Open
Introduction Newborn bloodspot screening (NBS) is freely and universally available to babies born in Australia, with nearly 300 000 newborns screened each year.
Karin S Kassahn, Nicholas Smith, Christopher P Barnett, Hamish S Scott, Tracy Merlin, Camille Schubert, Jovanka King, Scott Morris, Jennie Louise, Lucy Anastasi, Ayesha Chowdhury, Alex Ashenden, Tomas Rozek, Khoa Lam, Stephanie Skinner, Kirsty Stallard, Arlene Vogan, Sarah Cohen-Woods, Enzo Ranieri, Benjamin Saxon, Drago Bratkovic, Carol Wai-Kwan Siu   +21 more
doaj   +1 more source

Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns; a Report of a Work Group [PDF]

Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens.

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Evaluating the Performance of Traditional Pharmacoepidemiologic and Machine Learning Models to Predict Pregnancies at Risk of Major Congenital Malformations

Birth Defects Research, Volume 118, Issue 9, September 2026.
ABSTRACT Background With approximately 50% of pregnancies being unplanned, there is an unintended exposure to potential feto‐toxic drugs that may cause major congenital malformations (MCM). This study aims to compare the predictive performance between traditional pharmacoepidemiologic (PE) and machine learning (ML) models. Methods We conducted a cohort
Gabra Nohmie, Marc Lanovaz, Odile Sheehy, Cristina Longo, Robert Platt, Audrey Durand, Christine Damase‐Michel, Anick Bérard   +7 more
wiley   +1 more source

Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]

, 1996
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Rizzo, M., Vassallo Agius, Paul, Parascandalo, Raymond, Felice, Alex   +3 more
core  

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening

, 2012
BACKGROUND: Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell-receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined ...
Pass, Kenneth A., Pai, Sung-Yun, Navas, Jennifer S., Wilkey, Jonathan F., Baptiste, Jennifer C., Comeau, Anne Marie, Gerstel-Thompson, Jacalyn L., Eaton, Roger B.   +7 more
core   +1 more source