Intellectual disability-seizures-macrocephaly-obesity syndrome

A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.galenos.2020.2020.0101 ◽

2020 ◽

Vol 0 (0) ◽

pp. 0-0 ◽

Cited By ~ 1

Author(s):

Asude Durmaz ◽

Ayca Aykut ◽

Tahir Atik ◽

Samim Ozen ◽

Durdugul Ayyildiz Emecen ◽

...

Keyword(s):

Intellectual Disability ◽

Hypogonadotropic Hypogonadism ◽

Obesity Syndrome

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Aniridia-ptosis-intellectual disability-familial obesity syndrome

10.32388/7dauyw ◽

2020 ◽

Author(s):

Keyword(s):

Intellectual Disability ◽

Familial Obesity ◽

Obesity Syndrome

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Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36034 ◽

2013 ◽

Vol 161 (9) ◽

pp. 2294-2299 ◽

Cited By ~ 7

Author(s):

Scott E. Hickey ◽

Lauren Walters-Sen ◽

Theresa Mihalic Mosher ◽

Ruthann B. Pfau ◽

Robert Pyatt ◽

...

Keyword(s):

Intellectual Disability ◽

Short Stature ◽

Fmr1 Gene ◽

Obesity Syndrome

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Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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