| Original language | English |
|---|---|
| Pages (from-to) | 545-556 |
| Number of pages | 12 |
| Journal | Clinical Genetics |
| Volume | 93 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2018 |
Keywords
- copy number variations
- exome sequencing
- genetic diagnosis
- isodisomy
- loss of heterozygosity
- adult
- angioma
- appetite disorder
- arthrogryposis
- Article
- Bartter syndrome
- bioinformatics
- case report
- cerebellum hypoplasia
- cerebellum vermis
- child
- chromosome 14q
- chromosome 1q
- chromosome 2
- chromosome 8p
- chromosome analysis
- chromosome deletion
- chromosome mosaicism
- chromosome rearrangement
- chromosome translocation
- CLCNKB gene
- clinical article
- comparative genomic hybridization
- copy number variation
- corpus callosum agenesis
- CRB1 gene
- cryptorchism
- cytogenetics
- female
- fluorescence in situ hybridization
- gene
- gene amplification
- gene deletion
- gene duplication
- gene sequence
- genetic variation
- growth retardation
- heart atrium septum defect
- heterozygosity
- heterozygosity loss
- homozygosity
- human
- infant
- karyotyping
- kidney malformation
- language delay
- male
- missense mutation
- multiplex ligation dependent probe amplification
- muscle hypotonia
- nephrolithiasis
- newborn
- next generation sequencing
- patent foramen ovale
- polyuria
- preschool child
- priority journal
- psychomotor disorder
- retinitis pigmentosa
- Roberts syndrome
- salt wasting
- Sanger sequencing
- school child
- sex transformation
- short stature
- supravalvular aortic stenosis
- trisomy
- uniparental disomy
- vomiting
- WFS1 gene
- Williams Beuren syndrome
- young adult
Cite this
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. / Vetro, A.; Goidin, D.; Lesende, I.; Limongelli, I.; Ranzani, G.N.; Novara, F.; Bonaglia, M.C.; Rinaldi, B.; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, O.
In: Clinical Genetics, Vol. 93, No. 3, 2018, p. 545-556.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
AU - Vetro, A.
AU - Goidin, D.
AU - Lesende, I.
AU - Limongelli, I.
AU - Ranzani, G.N.
AU - Novara, F.
AU - Bonaglia, M.C.
AU - Rinaldi, B.
AU - Franchi, F.
AU - Manolakos, E.
AU - Lonardo, F.
AU - Scarano, F.
AU - Scarano, G.
AU - Costantino, L.
AU - Tedeschi, S.
AU - Giglio, S.
AU - Zuffardi, O.
N1 - Cited By :3 Export Date: 11 September 2018 CODEN: CLGNA Correspondence Address: Vetro, A.; Department of Molecular Medicine, University of PaviaItaly; email: annalisa.vetro@unipv.it
PY - 2018
Y1 - 2018
KW - copy number variations
KW - exome sequencing
KW - genetic diagnosis
KW - isodisomy
KW - loss of heterozygosity
KW - adult
KW - angioma
KW - appetite disorder
KW - arthrogryposis
KW - Article
KW - Bartter syndrome
KW - bioinformatics
KW - case report
KW - cerebellum hypoplasia
KW - cerebellum vermis
KW - child
KW - chromosome 14q
KW - chromosome 1q
KW - chromosome 2
KW - chromosome 8p
KW - chromosome analysis
KW - chromosome deletion
KW - chromosome mosaicism
KW - chromosome rearrangement
KW - chromosome translocation
KW - CLCNKB gene
KW - clinical article
KW - comparative genomic hybridization
KW - copy number variation
KW - corpus callosum agenesis
KW - CRB1 gene
KW - cryptorchism
KW - cytogenetics
KW - female
KW - fluorescence in situ hybridization
KW - gene
KW - gene amplification
KW - gene deletion
KW - gene duplication
KW - gene sequence
KW - genetic variation
KW - growth retardation
KW - heart atrium septum defect
KW - heterozygosity
KW - heterozygosity loss
KW - homozygosity
KW - human
KW - infant
KW - karyotyping
KW - kidney malformation
KW - language delay
KW - male
KW - missense mutation
KW - multiplex ligation dependent probe amplification
KW - muscle hypotonia
KW - nephrolithiasis
KW - newborn
KW - next generation sequencing
KW - patent foramen ovale
KW - polyuria
KW - preschool child
KW - priority journal
KW - psychomotor disorder
KW - retinitis pigmentosa
KW - Roberts syndrome
KW - salt wasting
KW - Sanger sequencing
KW - school child
KW - sex transformation
KW - short stature
KW - supravalvular aortic stenosis
KW - trisomy
KW - uniparental disomy
KW - vomiting
KW - WFS1 gene
KW - Williams Beuren syndrome
KW - young adult
U2 - 10.1111/cge.13060
DO - 10.1111/cge.13060
M3 - Article
VL - 93
SP - 545
EP - 556
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 3
ER -