Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. - Wikidata - wikimedia - TriplyDB

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

http://www.wikidata.org/entity/Q34305522

about

Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus Detailed analysis of 22q11.2 with a high density MLPA probe set Analysis of TBX1 variation in patients with psychotic and affective disorders.Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Phenotype of adults with the 22q11 deletion syndrome: A review 22q11 deletion syndrome: a genetic subtype of schizophrenia.Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes AT-rich palindromes mediate the constitutional t(11;22) translocation.Genetic insights into schizophrenia Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11 Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.Schizophrenia and genetics: new insights.Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome 22q11 deletion syndrome in adults with schizophrenia.Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome.Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.Transcription factor pathways and congenital heart disease.From murine to human nude/SCID: the thymus, T-cell development and the missing link.Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia.Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population.A patient with 22q11.2 deletion syndrome: case report.Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.Evaluation of linkage disequilibrium between chromosome 22q11 single nucleotide polymorphisms in a large outbred population.Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.

P2860

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P2860

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

http://www.wikidata.org/entity/Q34305522

description

1995 nî lūn-bûn

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1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1995 թվականի հուլիսին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年论文

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name

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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type

label

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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prefLabel

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

@ast

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

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Baldini A

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Carlson C

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Goldberg R

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