scholarly article | Q13442814 |
P356 | DOI | 10.1089/GTMB.2010.0079 |
P8608 | Fatcat ID | release_6dphlj4s6rehzhdxjkryzkuzki |
P953 | full work available at URL | http://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2010.0079 |
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0079 | ||
P698 | PubMed publication ID | 20854099 |
P50 | author | Leda Dalprà | Q114563955 |
P2093 | author name string | Isabella Mammi | |
Serena Redaelli | |||
Paola Drigo | |||
Elisabetta Lenzini | |||
Melissa Rosa-Rizzotto | |||
P2860 | cites work | Medical Science Monitor | Q15756323 |
A 3 1/2 year old girl with distal trisomy 19q defined by FISH | Q33677831 | ||
Cryptic subtelomeric translocations in the 22q13 deletion syndrome | Q35433306 | ||
Duplication of distal 19q: clinical report and review | Q35884564 | ||
A rare case of de novo distal 19q trisomy prenatally diagnosed | Q35927009 | ||
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities | Q36930079 | ||
Trisomy for the distal third of the long arm of chromosome 19 in brother and sister | Q39208440 | ||
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays | Q40396914 | ||
Distal 19q duplication | Q41935428 | ||
Epilepsy and trisomy 19q--different seizure patterns in a brother and a sister | Q43774643 | ||
Subtelomeric imbalances in phenotypically normal individuals. | Q51903797 | ||
Subtelomere deletions and translocations are frequently familial. | Q51931492 | ||
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. | Q51989119 | ||
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. | Q52011856 | ||
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. | Q52124007 | ||
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. | Q53499660 | ||
A cryptic unbalanced translocation resulting in del 13q and dup 15q | Q58612608 | ||
First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH | Q73651862 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 695-701 | |
P577 | publication date | 2010-09-20 | |
P1433 | published in | Genetic Testing and Molecular Biomarkers | Q15753742 |
P1476 | title | Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy | |
P478 | volume | 14 |
Q30614022 | 19q13.33→qter trisomy in a girl with intellectual impairment and seizures |
Q53310147 | Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. |
Q56320335 | De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce |
Q91038026 | Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q |
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