Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

scientific article published on October 14, 2003

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1086/379155
P953full work available at URLhttp://www.cell.com/article/S0002929707619697/pdf
https://europepmc.org/articles/PMC1180486
https://europepmc.org/articles/PMC1180486?pdf=render
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P932PMC publication ID1180486
P698PubMed publication ID14560400
P5875ResearchGate publication ID9050508

P2093author name stringP. A. Jacobs
J. A. Crolla
N. S. Thomas
S. E. Roberts
F. Maggouta
P2860cites workSupernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.Q52019068
Forty four probands with an additional "marker" chromosome.Q52090526
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.Q52121611
A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.Q52188787
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridizationQ58862145
Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effectQ61498122
Segregation of a supernumerary del(15) marker chromosome in spermQ73374995
A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical regionQ73489126
Paternal origin of a small, class I inv dup(15)Q77628907
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbQ24628031
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing methodQ28237886
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Q30495343
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).Q30630998
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysisQ31165084
Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.Q33680461
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Q34384983
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletionQ34461093
The origin and behavior of two isodicentric bisatellited chromosomesQ35202187
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlationsQ35250235
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patientsQ35643492
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Q35889343
Clinical and molecular analysis of five inv dup(15) patients.Q36738218
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomesQ36843166
Mouse model implicates GNB3 duplication in a childhood obesity syndromeQ37172992
Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15Q40764942
Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formationQ40833064
Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15.Q41733295
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotypeQ43074044
Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterizationQ50301664
Maternal origin of inv dup(15) chromosomes in infantile autismQ50302844
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.Q51955271
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectgeneticsQ7162
fluorescence in situ hybridizationQ1336182
P304page(s)1061-1072
P577publication date2003-10-14
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMolecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity
P478volume73

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cites work (P2860)
Q50343349A survey of seizures and current treatments in 15q duplication syndrome
Q38399872Characterisation of supernumerary chromosomal markers: a study of 13 cases
Q50302728Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region
Q36393300Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
Q28728448De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s
Q33287971Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
Q80998304Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies
Q33998533High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
Q38010219Marker chromosomes
Q33874840Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Q35776674Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype
Q36212709Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.
Q41920951Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
Q90568183Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients
Q58564726Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Q42141375Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.
Q80914628Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
Q35804773Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder
Q50301670The behavioral phenotype of the idic(15) syndrome
Q41809824Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features

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