Results 11 to 20 of about 433,850 (368)
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Romiplostim use in pregnant women with immune thrombocytopenia
American Journal of Hematology, Volume 98, Issue 1, Page 31-40, January 2023., 2023 Abstract Treatment for immune thrombocytopenia (ITP) in pregnancy is hampered by the lack of fetal safety evidence of maternally‐administered medications. The Pregnancy Surveillance Program (PSP) collected patient information from 2017–2020 for pregnancy, birth outcomes, and adverse events (AEs) for 186 women exposed to romiplostim from 20 days before ...
James B. Bussel +7 more
wiley +1 more source
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023 Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani +10 more
wiley +1 more source
Philosophy Compass, 2018 AbstractThe diagnosis of autism is on the rise. Autistic people, parents, professionals, and policy makers alike face important questions about the right approach toward autism. For example, there are questions about the desirability of early detection, the role and consequences of underlying cognitive theories, and whether autism is a disorder to be ...
Kristien Hens +2 more
openaire +4 more sources
Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome
Molecular Autism, 2022 Background Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD).
A. Kolevzon +10 more
doaj +1 more source
Frontiers in Psychiatry, 2014 Autism spectrum disorders (ASDs) are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression, and measures of the body's ...
Goldani, Andre AS +4 more
openaire +5 more sources
Sex differences in social and emotional insight in youth with and without autism
Molecular Autism, 2023 Autism was formally recognized by the medical community in the first half of the twentieth century. Almost 100 years later, a small but growing literature has reported sex differences in the behavioral expression of autism. Recent research has also begun
Hunter Mattern +9 more
doaj +1 more source
Autism, 2022 The language used to refer to autism has been a topic of ongoing debate. Research in English-speaking countries indicated an overall preference for identity-first language (‘autistic person’) among autistic adults rather than person-first language ...
Riley Buijsman, S. Begeer, A. Scheeren
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023 Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia +30 more
wiley +1 more source
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source