Results 191 to 200 of about 45,554 (278)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

American Journal of Human Genetics, 2014
Claire C. Homan, Raman Kumar, L. Nguyen, E. Haan, F. Raymond, F. Abidi, M. Raynaud, C. Schwartz, S. Wood, J. Gécz, L. Jolly   +10 more
semanticscholar   +1 more source

Righting Past Wrongs Through Restorative Justice: Managerial Motivations for Collaboration

Nonprofit Management and Leadership, EarlyView.
ABSTRACT Nonprofits are crucial to state collaborations as their embedded nature in communities allows them to gain the trust necessary to facilitate change and enhance strengths. As nonprofits collaborate with the public sector to tackle systemic challenges, understanding managerial motivations for collaboration and implications for social change is ...
Kara L. Lawrence, Nina R. Y. Blau, Paige L. Moore   +2 more
wiley   +1 more source

A fusion model integrating magnetic resonance imaging radiomics and deep learning features for predicting alpha-thalassemia X-linked intellectual disability mutation status in isocitrate dehydrogenase-mutant high-grade astrocytoma: a multicenter study. [PDF]

Quant Imaging Med Surg
Liu Z, Xu X, Zhang W, Zhang L, Wen M, Gao J, Yang J, Kan Y, Yang X, Wen Z, Chen S, Cao X.   +11 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility

Human Molecular Genetics, 2017
F. C. Guarnieri, D. Pozzi, A. Raimondi, R. Fesce, M. Valente, V. S. Delvecchio, H. Van Esch, M. Matteoli, F. Benfenati, P. D’Adamo, F. Valtorta   +10 more
semanticscholar   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability

Omics, 2017
Babylakshmi Muthusamy, L. D. N. Selvan, Thong T. Nguyen, Jesna Manoj, Eric W. Stawiski, B. Jaiswal, Weiru Wang, R. Raja, V. Ramprasad, Ravi Gupta, S. Murugan, J. Kadandale, T. K. Prasad, Kavita S Reddy, A. Peterson, A. Pandey, S. Seshagiri, S. Girimaji, H. Gowda   +18 more
semanticscholar   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

X-linked intellectual disability with marfanoid habitus [PDF]

, 2020
openaire   +1 more source