Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11 - Wikidata - wikimedia - TriplyDB

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

http://www.wikidata.org/entity/Q34389097

about

Microduplication and triplication of 22q11.2: a highly variable syndrome.Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Genomic disorders on 22q11 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 A method for accurate detection of genomic microdeletions using real-time quantitative PCR.Evidence for involvement of GNB1L in autism.A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.Palindrome-mediated chromosomal translocations in humans.The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.Supportive evidence for reduced expression of GNB1L in schizophrenia.AT-rich palindromes mediate the constitutional t(11;22) translocation.Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.Derivative 11;22 (emanuel) syndrome: a case report and a review.Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region.Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].

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Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

http://www.wikidata.org/entity/Q34389097

description

1999 nî lūn-bûn

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1999 թուականի Մարտին հրատարակուած գիտական յօդուած

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1999 թվականի մարտին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

@zh-hk

1999年論文

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1999年論文

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1999年论文

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name

Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

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Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

@en

type

label

Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

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Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

@en

prefLabel

Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

@ast

Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

@en

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American Journal of Human Genetics

P1476

Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11

@en

P2093

A Shanske

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

B Funke

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

L Cannizzaro

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L Edelmann

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M Zohouri

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N McCain

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R K Pandita

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

P2860

Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.

The aetiology of the cat eye syndrome reconsidered.

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Cre-mediated site-specific translocation between nonhomologous mouse chromosomes

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747-758

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scholarly article

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10.1086/302284

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3

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64

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Bernice E. Morrow

Jose Carlos Ferreira

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1999-03-01T00:00:00Z

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13237364

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10053009

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1377792

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