Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
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Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failureGlobal variation in copy number in the human genomeOrigins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspotsCancer/testis antigens: an expanding family of targets for cancer immunotherapyThe SSX gene family: characterization of 9 complete genesNF-kappaB-related genetic diseasesCharacterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patientsMutation analysis in primary immunodeficiency diseases: case studies.Absence of somatic mutations of NEMO in keratoacanthomaAbundant gene conversion between arms of palindromes in human and ape Y chromosomes.Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationDefective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency.Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.Directions in the immune targeting of cancer: lessons learned from the cancer-testis Ag NY-ESO-1.Incontinentia pigmenti in boys: a series and review of the literature.Clinical Utility Gene Card for: incontinentia pigmenti.Inverted low-copy repeats and genome instability--a genome-wide analysisComplex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.A 14-year-old girl with an unusual combination of incontinentia pigmenti and conversion disorder.Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes.Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.The LCR at the IKBKG locus is prone to recombine.Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.Deletion of filamin A in two female patients with periventricular nodular heterotopia
P2860
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P2860
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@ast
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@en
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@nl
type
label
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@ast
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@en
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@nl
prefLabel
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@ast
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@en
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@nl
P2093
P356
P1476
Multiple pathogenic and benign ...... lving the NEMO and LAGE2 genes
@en
P2093
A Ciccodicola
D L Nelson
P Galgóczy
S Kenwrick
T Esposito
T Yamagata
P304
P356
10.1093/HMG/10.22.2557
P407
P577
2001-10-15T00:00:00Z