scholarly article | Q13442814 |
P819 | ADS bibcode | 2016PLoSO..1153864P |
P356 | DOI | 10.1371/JOURNAL.PONE.0153864 |
P932 | PMC publication ID | 4847873 |
P698 | PubMed publication ID | 27120335 |
P50 | author | Beate Peter | Q88660415 |
University of Washington Center for Mendelian Genomics | Q98686649 | ||
Alejandro Q Nato | Q57031493 | ||
Ellen M. Wijsman | Q37369759 | ||
P2093 | author name string | Wendy H Raskind | |
Kathy L Chapman | |||
Ian B Stanaway | |||
John Wolff | |||
Virginia B Gabo | |||
Kaori Oda | |||
Mark M Matsushita | |||
P2860 | cites work | Deletion 2p15-16.1 syndrome: Case report and review | Q58193296 |
Intelligibility as a clinical outcome measure following intervention with children with phonologically based speech-sound disorders | Q59441813 | ||
School-Age Follow-Up of Children With Childhood Apraxia of Speech | Q64459123 | ||
Report of the Committee on Methods of Linkage Analysis and Reporting | Q69848402 | ||
Monte Carlo analysis on a large pedigree | Q72787401 | ||
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome | Q86393463 | ||
De novo microdeletion of BCL11A is associated with severe speech sound disorder | Q87838797 | ||
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. | Q21198726 | ||
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B | Q24293248 | ||
A functional genetic link between distinct developmental language disorders | Q24312638 | ||
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression | Q24318443 | ||
Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression | Q24336136 | ||
Ensembl 2014 | Q24567767 | ||
Further characterization of microdeletion syndrome involving 2p15‐p16.1 | Q24600096 | ||
Common genetic variants on 5p14.1 associate with autism spectrum disorders | Q24603204 | ||
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. | Q24604419 | ||
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder | Q24604488 | ||
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder | Q24624740 | ||
Relationship between speech-sound disorders and early literacy skills in preschool-age children: impact of comorbid language impairment | Q24642644 | ||
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 | ||
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 | Q24647937 | ||
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder | Q24655630 | ||
Sequential tests for the detection of linkage | Q24676543 | ||
PLINK: a tool set for whole-genome association and population-based linkage analyses | Q24677407 | ||
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study | Q27345528 | ||
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees | Q27860829 | ||
Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | Q28137841 | ||
Treatment intensity and childhood apraxia of speech. | Q50607967 | ||
Developmental apraxia of speech: I. Descriptive and theoretical perspectives. | Q50958615 | ||
7q11.23 Duplication syndrome: Physical characteristics and natural history. | Q52150046 | ||
Clinical assessment of oropharyngeal motor development in young children. | Q52255687 | ||
Nonword repetition and child language impairment. | Q52905791 | ||
Time-by-Count Measurement of Diadochokinetic Syllable Rate | Q54132797 | ||
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. | Q55048415 | ||
The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15. | Q55048884 | ||
An Extensive Comparison of Quantitative Trait Loci Mapping Methods | Q57203353 | ||
Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21 | Q57338077 | ||
A forkhead-domain gene is mutated in a severe speech and language disorder | Q28190379 | ||
Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia | Q28211302 | ||
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome | Q28219681 | ||
A copy number variation map of the human genome | Q28256361 | ||
Localisation of a gene implicated in a severe speech and language disorder | Q28261550 | ||
Consensus paper: the cerebellum's role in movement and cognition | Q28655933 | ||
Human non-synonymous SNPs: server and survey | Q29547603 | ||
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations | Q29614573 | ||
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor | Q29614870 | ||
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data | Q29614933 | ||
An anatomically comprehensive atlas of the adult human brain transcriptome | Q29614949 | ||
A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
Endophenotypes of FOXP2: dysfunction within the human articulatory network | Q30010940 | ||
Data-driven subclassification of speech sound disorders in preschool children. | Q30417794 | ||
GEMINI: integrative exploration of genetic variation and genome annotations | Q30418169 | ||
Copy number variation detection and genotyping from exome sequence data | Q30422583 | ||
Early gray-matter and white-matter concentration in infancy predict later language skills: a whole brain voxel-based morphometry study | Q30445007 | ||
Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study | Q30445289 | ||
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization | Q30447724 | ||
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. | Q30469080 | ||
A multigenerational family study of oral and hand motor sequencing ability provides evidence for a familial speech sound disorder subtype | Q30469175 | ||
A nonword repetition task for speakers with misarticulations: the Syllable Repetition Task (SRT) | Q30479393 | ||
Myosin-X functions in polarized epithelial cells | Q30513859 | ||
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech | Q30529890 | ||
Inheritance model introduces differential bias in CNV calls between parents and offspring | Q30540543 | ||
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). | Q30541813 | ||
PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers | Q30984320 | ||
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data | Q30991765 | ||
Toward diagnostic and phenotype markers for genetically transmitted speech delay | Q33230334 | ||
Computer-simulation methods in human linkage analysis | Q33867255 | ||
The structure of genetic linkage data: from LIPED to 1M SNPs | Q33953316 | ||
Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population | Q34126247 | ||
A fast, powerful method for detecting identity by descent | Q34163751 | ||
Deciphering the genetic basis of speech and language disorders | Q34170013 | ||
PtdIns (3,4,5) P3 recruitment of Myo10 is essential for axon development | Q34271141 | ||
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. | Q34295566 | ||
A molecular approach to galactosemia | Q34305060 | ||
Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning | Q34416238 | ||
mrsFAST: a cache-oblivious algorithm for short-read mapping. | Q35047218 | ||
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention | Q36059777 | ||
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes | Q36083196 | ||
Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family | Q36125741 | ||
A second-generation combined linkage physical map of the human genome | Q36177402 | ||
The interaction of the retina cell surface N-acetylgalactosaminylphosphotransferase with an endogenous proteoglycan ligand results in inhibition of cadherin-mediated adhesion | Q36235610 | ||
Molecular diversity of voltage-dependent Ca2+ channels | Q36439916 | ||
Emerging roles of the corepressors NCoR1 and SMRT in homeostasis | Q36832163 | ||
Identification of rare variants from exome sequence in a large pedigree with autism | Q37042364 | ||
Multilocus lod scores in large pedigrees: combination of exact and approximate calculations | Q37240936 | ||
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech | Q37419191 | ||
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation | Q37992402 | ||
Cadherins and neuropsychiatric disorders | Q38024167 | ||
A systematic review of treatment outcomes for children with childhood apraxia of speech. | Q38200901 | ||
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample | Q38271952 | ||
Dimensions of early speech sound disorders: A factor analytic study | Q38410167 | ||
How Valid Is the Checklist for Autism Spectrum Disorder When a Child Has Apraxia of Speech? | Q41638964 | ||
Grey matter volume in the cerebellum is related to the processing of grammatical rules in a second language: a structural voxel-based morphometry study | Q41878083 | ||
Exclusion mapping. | Q42081347 | ||
Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves | Q42674561 | ||
The power to detect linkage in complex disease by means of simple LOD-score analyses | Q43217773 | ||
cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs | Q45641817 | ||
Educational consequences of developmental speech disorder: Key Stage 1 National Curriculum assessment results in English and mathematics | Q50147699 | ||
A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion | Q50306740 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | apraxia | Q498916 |
P304 | page(s) | e0153864 | |
P577 | publication date | 2016-04-27 | |
P1433 | published in | PLOS One | Q564954 |
P1476 | title | Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech | |
P478 | volume | 11 |
Q38849781 | A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker |
Q91586600 | A Psycholinguistic Framework for Diagnosis and Treatment Planning of Developmental Speech Disorders |
Q47340286 | Novel transcriptional networks regulated by CLOCK in human neurons |
Q47937416 | Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech. |
Q52088814 | Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays. |
Q92060237 | ZGRF1 Is Associated with Poor Prognosis in Triple-Negative Breast Cancer and Promotes Cancer Stemness Based on Bioinformatics |
Search more.