Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. - Wikidata - awgldk - TriplyDB

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

http://www.wikidata.org/entity/Q48611267

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux Haploinsufficiency of TAB2 causes congenital heart defects in humans Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Of mice and men: molecular genetics of congenital heart disease Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report Rai1 frees mice from the repression of active wake behaviors by light.Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Behavioral disturbance and treatment strategies in Smith-Magenis syndrome Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome Risk of malignancy in 22q11.2 deletion syndrome.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Auditory Phenotype of Smith-Magenis Syndrome.First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.What can we learn from old microdeletion syndromes using array-CGH screening?Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

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P2860

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

http://www.wikidata.org/entity/Q48611267

description

2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Variability in clinical phenot ...... in Smith-Magenis syndrome [del

@nl

Variability in clinical phenot ...... yndrome [del(17)(p11.2p11.2)].

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type

label

Variability in clinical phenot ...... in Smith-Magenis syndrome [del

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Variability in clinical phenot ...... yndrome [del(17)(p11.2p11.2)].

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prefLabel

Variability in clinical phenot ...... in Smith-Magenis syndrome [del

@nl

Variability in clinical phenot ...... yndrome [del(17)(p11.2p11.2)].

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Genetics in Medicine

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Variability in clinical phenot ...... yndrome [del(17)(p11.2p11.2)].

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P2093

Christine J Shaw

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James R Lupski

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Lorraine Potocki

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Pawel Stankiewicz

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P2860

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

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