Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33208 ◽

2010 ◽

Vol 152A (3) ◽

pp. 713-717 ◽

Cited By ~ 7

Author(s):

Jayson D. Rodriguez ◽

Shambhu S. Bhat ◽

Ilaria Meloni ◽

Sydney Ladd ◽

Nancy D. Leslie ◽

...

Keyword(s):

Intellectual Disability ◽

Alport Syndrome ◽

Midface Hypoplasia

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Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.40375 ◽

2018 ◽

Vol 176 (9) ◽

pp. 1981-1984

Author(s):

Huy Hoang Nguyen ◽

Van Anh Pham ◽

Giulia Barcia ◽

Valérie Malan ◽

Kiem Lien Thi Nguyen ◽

...

Keyword(s):

Intellectual Disability ◽

Midface Hypoplasia

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Identification and Characterization of a Highly Conserved Protein Absent in the Alport Syndrome (A), Mental Retardation (M), Midface Hypoplasia (M), and Elliptocytosis (E) Contiguous Gene Deletion Syndrome (AMME)

Genomics ◽

10.1006/geno.1998.5666 ◽

1999 ◽

Vol 55 (3) ◽

pp. 335-340 ◽

Cited By ~ 30

Author(s):

Francesca Vitelli ◽

Monica Piccini ◽

Francesco Caroli ◽

Brunella Franco ◽

Alessandro Malandrini ◽

...

Keyword(s):

Mental Retardation ◽

Alport Syndrome ◽

Gene Deletion ◽

Deletion Syndrome ◽

Midface Hypoplasia ◽

Contiguous Gene ◽

Contiguous Gene Deletion Syndrome ◽

Identification And Characterization

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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Journal of Medical Genetics ◽

10.1136/jmg.35.4.273 ◽

1998 ◽

Vol 35 (4) ◽

pp. 273-278 ◽

Cited By ~ 38

Author(s):

J J Jonsson ◽

A Renieri ◽

P G Gallagher ◽

C E Kashtan ◽

E M Cherniske ◽

...

Keyword(s):

Mental Retardation ◽

Alport Syndrome ◽

Gene Deletion ◽

Deletion Syndrome ◽

Midface Hypoplasia ◽

Contiguous Gene ◽

Contiguous Gene Deletion 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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