(Q47579952)

4 February 2018

title

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia (English)

1 reference

4 February 2018

main subject

Koolen de Vries syndrome

1 reference

1

1 reference

4 February 2018

Cristina Mei

Cristina Mei

5

0 references

Tiong Y Tan

Tiong Yang Tan

6

0 references

Simon Fisher

Simon E Fisher

8

0 references

David J Amor

David Amor

7

0 references

author name string

Leenke van Haaften

2

1 reference

4 February 2018

Karen van Hulst

3

1 reference

4 February 2018

Carol Edley

4

1 reference

4 February 2018

David A Koolen

9

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4 February 2018

publication date

11 December 2017

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4 February 2018

European Journal of Human Genetics

published in

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4 February 2018

volume

26

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4 February 2018

issue

1

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4 February 2018

page(s)

75-84

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4 February 2018

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Oromotor Feeding in Children Born Before 30 Weeks' Gestation and Term-Born Peers at 12 Months' Corrected Age.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Speech therapy for children with dysarthria acquired before three years of age

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

CATALISE: A Multinational and Multidisciplinary Delphi Consensus Study. Identifying Language Impairments in Children

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

A Randomized Controlled Trial for Children With Childhood Apraxia of Speech Comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme-Third Edition

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Effects of feeding a soft diet and subsequent rehabilitation on the development of the masticatory function

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Development of oral motor behavior related to the skill assisted spoon feeding.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Phonology matters: a comprehensive investigation of reading and spelling skills of school-age children with mild to moderate sensorineural hearing loss

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

A pilot study to increase chewing in children with feeding disorders.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

The Social Communication Intervention Project: a randomized controlled trial of the effectiveness of speech and language therapy for school-age children who have pragmatic and social communication problems with or without autism spectrum disorder.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Role of cerebellum in fine speech control in childhood: persistent dysarthria after surgical treatment for posterior fossa tumour.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Re-thinking diagnostic classification of the dysarthrias: a developmental perspective.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

The phenotype of Floating-Harbor syndrome in 10 patients.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Evaluation of a combined treatment approach for childhood apraxia of speech.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

The effects of an early history of otitis media on children's language and literacy skill development

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Intervention for children with severe speech disorder: a comparison of two approaches

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Speech and language therapy interventions for children with primary speech and language delay or disorder

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Mother-child interaction revisited: communication with non-speaking physically disabled children.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Clinical assessment of oropharyngeal motor development in young children.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5839037

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

29 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41431-017-0035-9

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41431-017-0035-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41431-017-0035-9

1 reference

4 February 2018

PMC publication ID

5839037

0 references

1 reference

4 February 2018