Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. - Wikidata - awgldk - TriplyDB

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

http://www.wikidata.org/entity/Q34328696

about

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Clinical report of a 17q12 microdeletion with additionally unreported clinical features.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Phenotypic manifestations of copy number variation in chromosome 16p13.11.A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum An assessment of sex bias in neurodevelopmental disorders.Association testing of copy number variants in schizophrenia and autism spectrum disorders.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era Copy-number disorders are a common cause of congenital kidney malformations Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans Phenotypic variability and genetic susceptibility to genomic disorders Copy number variants: a new molecular frontier in clinical psychiatry.Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?The genetic landscape of autism spectrum disorders.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.HNF1B-associated clinical phenotypes: the kidney and beyond.Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.Genetic basis of human congenital anomalies of the kidney and urinary tract.Recent advances in the molecular diagnosis of polycystic kidney disease.Choledochal Cyst with 17q12 Chromosomal Duplication.Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.Recurrent duplications of 17q12 associated with variable phenotypes.17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.17q12 microduplications: a challenge for clinicians.

P2860

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P2860

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

http://www.wikidata.org/entity/Q34328696

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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type

label

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

@en

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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prefLabel

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

@ast

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

@en

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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European Journal of Human Genetics

P1476

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

@en

P2093

Ayelet Erez

http://www.w3.org/2001/XMLSchema#string

Chumei Li

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Elizabeth Roeder

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Lefkothea Karaviti

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Margret Pearson

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Pawel Stankiewicz

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Sandesh Chakravarthy Sreenath Nagamani

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Sarah Cox

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Sau Wai Cheung

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Seema R Lalani

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Requirement for Lim1 in head-organizer function

LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, control Purkinje cell differentiation in the developing cerebellum

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.

Private inherited microdeletion/microduplications: implications in clinical practice.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.

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278-284

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10.1038/EJHG.2009.174

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3

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19844256

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