Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (scientific article)

cites work (P2860)

Q37691480	"Idiopathic" mental retardation and new chromosomal abnormalities
Q40182646	A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.
Q37598586	A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.
Q53551115	An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.
Q34009396	Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies
Q57828426	Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
Q24632941	CNV and nervous system diseases--what's new?
Q37239862	Characterization of six human disease-associated inversion polymorphisms
Q36744802	Common variants at 6q22 and 17q21 are associated with intracranial volume
Q33856401	Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
Q42210110	Complex phenotype associated with 17q21.31 microdeletion.
Q37408049	Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females
Q28752220	Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Q42249306	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
Q24630191	Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome
Q26744182	Cytogenomic Aberrations in Congenital Cardiovascular Malformations
Q34288731	De novo mutations in human genetic disease
Q57990805	De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
Q38068938	Detection and interpretation of genomic structural variation in health and disease.
Q30886605	Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
Q37499225	Duplication hotspots, rare genomic disorders, and common disease
Q47579952	Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Q37784961	Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches
Q47696253	Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
Q50640120	Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics.
Q37945467	Functional enrichment analysis with structural variants: pitfalls and strategies
Q47070224	GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Q90669133	Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Q38112901	Genetic architecture of reciprocal CNVs
Q38233866	Genetics and genomics of Parkinson's disease
Q41929373	Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
Q37198442	Genomic disorders ten years on.
Q33937230	Genomics, intellectual disability, and autism
Q37654549	Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.
Q90139882	Human core duplicon gene families: game changers or game players?
Q22065433	Human genome sequencing in health and disease
Q33387075	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Q57150513	Identification of copy number variants associated with BPES-like phenotypes
Q52912983	Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Q88732265	Inversion variants in human and primate genomes
Q35751744	KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
Q47553892	KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood
Q38166377	LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules.
Q53150475	Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
Q93096067	Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)
Q54408863	Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
Q42916354	Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil
Q64994553	Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network.
Q37185997	Molecular and clinical delineation of the 17q22 microdeletion phenotype
Q88038924	Monozygotic twins with 17q21.31 microdeletion syndrome
Q63432936	Multi-platform discovery of haplotype-resolved structural variation in human genomes
Q55670707	Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Q51788691	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Q96431622	Neural metabolic imbalance induced by MOF dysfunction triggers pericyte activation and breakdown of vasculature
Q28073446	New insights into the generation and role of de novo mutations in health and disease
Q26995476	Of mice and men: molecular genetics of congenital heart disease
Q35226155	On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
Q50303585	Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics.
Q36486642	Perspectives on stress resilience and adolescent neurobehavioral function
Q35030847	Phenotype mining in CNV carriers from a population cohort
Q35892626	Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience
Q38089841	Prenatal diagnosis by array-comparative genomic hybridization
Q36504775	Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Q41842853	Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region
Q88580639	Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions
Q52320476	RASopathies are associated with a distinct personality profile.
Q34328409	Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
Q24633748	Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype
Q29544005	Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Q53426251	Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders.
Q30566015	SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay
Q93043682	Structural Genome Variations Related to Craniosynostosis
Q36129488	Structural diversity and African origin of the 17q21.31 inversion polymorphism
Q45423315	Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Q48756991	Tau's role in the developing brain: implications for intellectual disability.
Q30477238	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Q37058516	The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Q50306612	The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Q47740737	The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients
Q33965270	The genetic variability and commonality of neurodevelopmental disease
Q35765523	The genetics of microdeletion and microduplication syndromes: an update.
Q58617586	The many lives of KATs - detectors, integrators and modulators of the cellular environment
Q34694730	The phenotype of recurrent 10q22q23 deletions and duplications
Q37445023	The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts
Q36035703	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
Q38728734	When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

P356	DOI	10.1136/JMG.2008.058701
P8608	Fatcat ID	release_c532smjlrnbcfgfg4sjzucrxny
P932	PMC publication ID	3071570
P698	PubMed publication ID	18628315
P5875	ResearchGate publication ID	51403229

P50	author	Andrew Oliver Mungo Wilkie	Q21165202
P2093	author name string	H G Brunner
		R Pfundt
		C E Schwartz
		J M Garrett
		J A Hurst
		T M Strom
		E Rossi
		B B A de Vries
		S Aradhya
		O Zuffardi
		A Rauch
		M J M Nowaczyk
		R Ciccone
		H Stewart
		C Rosenberg
		K Bell
		A Goldenberg
		B Grisart
		G M S Mancini
		M Field
		E E Eichler
		J A Veltman
		P Saugier-Veber
		A M Vianna-Morgante
		A J Sharp
		A Hackett
		M Zenker
		D A Koolen
		S Crosby
		L Willatt
		N Van der Aa
		S J L Knight
		L E L M Vissers
		H V Firth
		A C Krepischi-Santos
		A Destrée
		A O M Wilkie
		C Shaw-Smith
		J Wagenstaller
		L L Antonacci-Fulton
		L Rooms
		M A Manning
		M A Wiechert
		M D McLellan
		M De Gregori
		P J Poddighe
		S M Price
		T L Miner
P2860	cites work	Structural variation in the human genome	Q22122017
		UBE3A/E6-AP mutations cause Angelman syndrome	Q24311799
		Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification	Q24530153
		Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features	Q24675632
		Segmental duplications and copy-number variation in the human genome	Q28253048
		Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability	Q28257488
		Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17	Q28274687
		Genome architecture, rearrangements and genomic disorders	Q29614721
		A common inversion under selection in Europeans	Q29614908
		PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing	Q29618564
		PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data	Q31108463
		High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs	Q34106761
		Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.	Q34439696
		A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.	Q34529384
		Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome	Q34556894
		A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.	Q34556905
		The natural history of Noonan syndrome: a long-term follow-up study	Q34567819
		A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features	Q34638615
		The epidemiology of mental retardation: challenges and opportunities in the new millennium	Q34821968
		Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group	Q35249493
		Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration	Q35447435
		Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements	Q36360406
		Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation	Q36430804
		Whole genome DNA copy number changes identified by high density oligonucleotide arrays	Q36475181
		A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures	Q36627230
		Diagnosis and management of medical problems in adults with Williams-Beuren syndrome	Q36886033
		Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays	Q37004613
		A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays	Q40396914
		The prevalence of mental retardation: a critical review of recent literature.	Q41376660
		Association of an extended haplotype in the tau gene with progressive supranuclear palsy	Q47726308
		Genome structural variation and sporadic disease traits	Q48085036
		Mutations in RAI1 associated with Smith-Magenis syndrome	Q48254701
		Pick's disease is associated with mutations in the tau gene.	Q49153118
		Clinical features and management issues in Mowat-Wilson syndrome.	Q51910142
		Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.	Q51916075
		Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.	Q51983225
		The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.	Q53270733
		Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.	Q53338420
		Development and validation of a CGH microarray for clinical cytogenetic diagnosis	Q57537935
		Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses	Q62937182
		Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits	Q77572380
P433	issue	11
P407	language of work or name	English	Q1860
P921	main subject	microdeletion syndrome	Q10329580
P304	page(s)	710-20
P577	publication date	2008-11-01
P1433	published in	Journal of Medical Genetics	Q14640281
P1476	title	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
P478	volume	45

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

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