X‐ray Structures and Feasibility Assessment of CLK2 Inhibitors for Phelan–McDermid Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "ChemMedChem"
DOI: 10.1002/cmdc.201800344
Abstract: CLK2 inhibition has been proposed as a potential mechanism to improve autism and neuronal functions in Phelan–McDermid syndrome (PMDS). Herein, the discovery of a very potent indazole CLK inhibitor series and the CLK2 X‐ray structure… read more here.
Keywords: clk2 inhibitors; clk2; ray structures; ray ... See more keywords
Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature
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DOI: 10.1002/mgg3.2035
Abstract: Sleep is essential to maintaining a healthy life. Sleep disturbances among individuals with neurodevelopmental disorders are not well studied, affecting their early detection and treatment. Sleep disturbances in individuals with Phelan–McDermid Syndrome (PMS) are among… read more here.
Keywords: sleep phelan; phelan mcdermid; lessons international; mcdermid syndrome ... See more keywords
Opportunities for ABA intervention in Phelan–McDermid syndrome
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DOI: 10.1080/20473869.2021.1895698
Abstract: Phelan–McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan–McDermid Syndrome Foundation, 2019, How rare is P... read more here.
Keywords: intervention phelan; aba intervention; opportunities aba; mcdermid syndrome ... See more keywords
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
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DOI: 10.1111/cge.14074
Abstract: Phelan-McDermid syndrome (PMS) (OMIM *606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association… read more here.
Keywords: metabolic profiling; profiling individuals; genetic metabolic; individuals phelan ... See more keywords
Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14364
Abstract: Lymphedema is a troubling condition present in many disorders including the rare genetic disorder known as Phelan-McDermid syndrome (PMS). The neurobehavioral features of PMS, also known as 22q13.3 deletion syndrome, have been investigated, but little… read more here.
Keywords: celsr1; phelan mcdermid; lymphedema; mcdermid syndrome ... See more keywords
Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-020-9309-6
Abstract: Background Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3 , which codes… read more here.
Keywords: illness regression; regression; psychiatric illness; mcdermid syndrome ... See more keywords
Characterisation of the clinical phenotype in Phelan-McDermid syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-021-09370-5
Abstract: Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3 , a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID).… read more here.
Keywords: phenotype; deletion size; mcdermid syndrome; phelan mcdermid ... See more keywords
Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-021-09400-2
Abstract: Background The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum… read more here.
Keywords: group; disorder; memory phelan; phelan mcdermid ... See more keywords
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
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DOI: 10.1186/s13229-019-0291-3
Abstract: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia, severe speech impairments, and autism spectrum disorder. Emerging evidence indicates that there are changes… read more here.
Keywords: loss; loss skills; neuropsychiatric decompensation; decompensation ... See more keywords
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment
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DOI: 10.1371/journal.pone.0213921
Abstract: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SHANK3, which is located… read more here.
Keywords: analysis; region; expression; mcdermid syndrome ... See more keywords
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
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DOI: 10.1371/journal.pone.0253859
Abstract: Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities… read more here.
Keywords: position effects; position; candidate genes; effects 22q13 ... See more keywords