Results 171 to 180 of about 45,424 (315)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism. [PDF]

Mol Genet Metab Rep
Sawyer K, Miller W, Popp C, Strege C, Eide C, Tolar J.   +5 more
europepmc   +1 more source

In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]

, 1988
Shuichi Yamaguchi
openalex   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Association of maternal autoimmune disease and early childhood infections with offspring autism spectrum disorder: A population‐based cohort study

Autism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022
Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen, Natasha Nassar, Antonia W. Shand, Hannah F. Jones, Velda X. Han, Shrujna Patel, Adam J. Guastella, Russell C. Dale, Samantha J. Lain   +8 more
wiley   +1 more source

Characterization of the epidemiology, susceptibility genes and clinical features of viral infections among children with inborn immune errors: a retrospective study. [PDF]

Virol J
Zhang H, Wang W, Zhou Q, Hou J, Ying W, Hui X, Sun J, Liu L, Liu L, Wang C, Zhang H, Sun B, Wang X.   +12 more
europepmc   +1 more source

138 PROSPECTIVE ANALYSIS OF PATENT DUCTUS ARTERIO-SUS (PDA) IN INBORN INFANTS < 1500 GM [PDF]

, 1981
Jaime A Furzán, W. Pennock Laird, Jon E. Tyson, Charles R. Rosenfeld   +3 more
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]

, 1985
J. B. Holton
openalex   +1 more source