Behavioral characteristics associated with 19p13.2 microdeletions. (Q52661949)

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19 February 2020

title

Behavioral characteristics associated with 19p13.2 microdeletions (English)

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19 February 2020

8

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19 February 2020

Joanna Moss

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19 February 2020

author name string

Alice Welham

1

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19 February 2020

Bursharan Barth

2

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19 February 2020

Jessica Penhallow

4

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19 February 2020

Krupa Sheth

5

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19 February 2020

Lucy Wilde

6

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19 February 2020

Sarah Wynn

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19 February 2020

language of work or name

English

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publication date

16 July 2015

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American Journal of Medical Genetics

19 February 2020

published in

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19 February 2020

volume

167A

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19 February 2020

issue

10

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19 February 2020

page(s)

2334-2343

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Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

19 February 2020

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The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes

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Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

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Autism screening questionnaire: diagnostic validity

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A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

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Autism is associated with the fragile-X syndrome

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The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability.

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Adults with intellectual disabilities: prevalence, incidence and remission of self-injurious behaviour, and related factors

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Developmental and behavioural characteristics of cri du chat syndrome

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Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6

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Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers

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Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system

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Health and sleep problems in Cornelia de Lange Syndrome: a case control study

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Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

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Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: findings from a study of individuals with Cohen syndrome.

21 January 2018

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A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

21 January 2018

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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

21 January 2018

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A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

21 January 2018

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Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

21 January 2018

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Primary structure and functional expression from complementary DNA of a brain calcium channel

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The prevalence and phenomenology of repetitive behavior in genetic syndromes.

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Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes

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Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome.

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Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

21 January 2018

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Preliminary analysis of the psychometric properties of the Mood, Interest & Pleasure Questionnaire (MIPQ) for adults with severe and profound learning disabilities

21 January 2018

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A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.

21 January 2018

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Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome

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Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia

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Behaviour problems in Angelman syndrome

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21 January 2018

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A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

21 January 2018

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Language, social, and cognitive impairments in autism and severe mental retardation

21 January 2018

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Identifiers

DOI

10.1002/AJMG.A.37180

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19 February 2020

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