Intrachromosomal triplication of 15q11-q13.

scientific article

Intrachromosomal triplication of 15q11-q13. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.31.10.798
P932PMC publication ID1050127
P698PubMed publication ID7837257
P5875ResearchGate publication ID15362482

P2093author name stringSchinzel AA
Binkert F
Brecevic L
Robinson WP
Bernasconi F
Berthet F
Wuilloud A
P2860cites workSister chromatid fusion initiates amplification of the dihydrofolate reductase gene in Chinese hamster cellsQ30467650
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysisQ31165084
Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopyQ33281355
Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified libraryQ33298181
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndromeQ33595511
An immunodeficiency characterized by impaired antibody responses to polysaccharidesQ34180879
Detection of the Philadelphia chromosome in interphase nucleiQ34289265
Deletions of chromosome 15 as a cause of the Prader-Willi syndromeQ34718526
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 casesQ35202068
Clinical and molecular analysis of five inv dup(15) patients.Q36738218
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.Q36762586
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.Q36783665
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?Q52026256
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequencesQ57386849
P433issue10
P407language of work or nameEnglishQ1860
P304page(s)798-803
P577publication date1994-10-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleIntrachromosomal triplication of 15q11-q13.
P478volume31

Reverse relations

cites work (P2860)
Q30168524Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.
Q50302516Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation
Q50302069Autism and maternally derived aberrations of chromosome 15q.
Q24680506Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
Q50305599Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement
Q50302728Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region
Q34570567Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters
Q34389945Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
Q53215506Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
Q34705056Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements
Q53612711Copy number variations in children with brain malformations and refractory epilepsy.
Q44017821Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.
Q50310138Genomic screen and follow-up analysis for autistic disorder
Q30827417Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
Q33678546Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.
Q35250235Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations
Q50301664Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization
Q33537428Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism
Q32113622Intrachromosomal triplication of distal 7p.
Q73001724Intrachromosomal triplications: molecular cytogenetic and clinical studies
Q57790305Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
Q34385408Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Q37044340Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.
Q37634108Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication
Q30495343Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Q35643492Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
Q42633715Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome
Q57339092Optimal design of oligonucleotide microarrays for measurement of DNA copy-number
Q21266627Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
Q34386784Rearrangements of chromosome 15 in epilepsy
Q61497970Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations
Q71104624Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)
Q50309756Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic-like syndrome?
Q24614728Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
Q28283600Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Q33712728Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
Q28301354The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
Q33680198The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Q33680746Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
Q51907530Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

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