Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
about
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsIntegrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbiditiesDevelopmental 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.Genomics, intellectual disability, and autismDoes epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Hepatocyte nuclear factor-1β: A regulator of kidney development and cystogenesisIndependent 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 SpectrumAssociation testing of copy number variants in schizophrenia and autism spectrum disorders.Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Copy number variants: a new molecular frontier in clinical psychiatry.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.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.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.17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.Complex autism spectrum disorder in a patient with a 17q12 microduplication
P2860
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P2860
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
description
2010 nî lūn-bûn
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name
Autism in three patients with ...... and chromosome 17q12 deletion.
@en
Autism in three patients with ...... and chromosome 17q12 deletion.
@nl
type
label
Autism in three patients with ...... and chromosome 17q12 deletion.
@en
Autism in three patients with ...... and chromosome 17q12 deletion.
@nl
prefLabel
Autism in three patients with ...... and chromosome 17q12 deletion.
@en
Autism in three patients with ...... and chromosome 17q12 deletion.
@nl
P2093
P356
P1476
Autism in three patients with ...... and chromosome 17q12 deletion.
@en
P2093
Chantal Loirat
Georges Deschênes
Isabelle Husson
Nadia Chabane
P304
P356
10.1093/NDT/GFQ380
P407
P577
2010-06-28T00:00:00Z