231 related articles for article (PubMed ID: 30647996)
1. MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Capkova P; Srovnal J; Capkova Z; Staffova K; Becvarova V; Trkova M; Adamova K; Santava A; Curtisova V; Hajduch M; Prochazka M
PeerJ; 2019; 6():e6183. PubMed ID: 30647996
[TBL] [Abstract][Full Text] [Related]
2. Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.
Akter H; Rahman MM; Sarker S; Basiruzzaman M; Islam MM; Rahaman MA; Rahaman MA; Eshaque TB; Dity NJ; Sarker S; Amin MR; Hossain MM; Lopa M; Jahan N; Hossain S; Islam A; Mondol A; Faruk MO; Saha N; Kundu GK; Kanta SI; Kazal RK; Fatema K; Rahman MA; Hasan M; Hossain Mollah MA; Hosen MI; Karuvantevida N; Begum G; Zehra B; Nassir N; Nabi AHMN; Uddin KMF; Uddin M
Front Genet; 2023; 14():955631. PubMed ID: 36959829
[No Abstract] [Full Text] [Related]
3. A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Chaves TF; Ocampos M; Barbato IT; de Camargo Pinto LL; de Luca GR; Barbato Filho JH; Bernardi P; Costa Netto Muniz Y; Francesca Maris A
Sci Rep; 2024 Feb; 14(1):3762. PubMed ID: 38355898
[TBL] [Abstract][Full Text] [Related]
4. Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.
Shin S; Yu N; Choi JR; Jeong S; Lee KA
Ann Lab Med; 2015 Sep; 35(5):510-8. PubMed ID: 26206688
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.
Lovrečić L; Rajar P; Volk M; Bertok S; Gnidovec Stražišar B; Osredkar D; Jekovec Vrhovšek M; Peterlin B
J Appl Genet; 2018 May; 59(2):179-185. PubMed ID: 29564645
[TBL] [Abstract][Full Text] [Related]
6. Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Hnoonual A; Thammachote W; Tim-Aroon T; Rojnueangnit K; Hansakunachai T; Sombuntham T; Roongpraiwan R; Worachotekamjorn J; Chuthapisith J; Fucharoen S; Wattanasirichaigoon D; Ruangdaraganon N; Limprasert P; Jinawath N
Sci Rep; 2017 Sep; 7(1):12096. PubMed ID: 28935972
[TBL] [Abstract][Full Text] [Related]
7. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
[TBL] [Abstract][Full Text] [Related]
8. [Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].
Liu Y; Xie J; Geng Q; Xu Z; Wu W; Luo F; Li S; Wang Q; Chen W; Tan H; Zhang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):1-5. PubMed ID: 28186583
[TBL] [Abstract][Full Text] [Related]
9. Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.
Lou J; Sun M; Zhao Y; Fu Y; Yuan H; Dai Y; Liang F; He Y; Liu Y
J Matern Fetal Neonatal Med; 2022 Aug; 35(16):3064-3069. PubMed ID: 32811234
[TBL] [Abstract][Full Text] [Related]
10. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
D'Angelo CS; Varela MC; de Castro CIe; Kim CA; Bertola DR; Lourenço CM; Perez AB; Koiffmann CP
Mol Cytogenet; 2014; 7(1):75. PubMed ID: 25411582
[TBL] [Abstract][Full Text] [Related]
11. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Roberts JL; Hovanes K; Dasouki M; Manzardo AM; Butler MG
Gene; 2014 Feb; 535(1):70-8. PubMed ID: 24188901
[TBL] [Abstract][Full Text] [Related]
12. Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Ho KS; Wassman ER; Baxter AL; Hensel CH; Martin MM; Prasad A; Twede H; Vanzo RJ; Butler MG
Int J Mol Sci; 2016 Dec; 17(12):. PubMed ID: 27941670
[TBL] [Abstract][Full Text] [Related]
13. Genomic imbalances in craniofacial microsomia.
Spineli-Silva S; Sgardioli IC; Dos Santos AP; Bergamini LL; Monlleó IL; Fontes MIB; Félix TM; Ribeiro EM; Xavier AC; Lustosa-Mendes E; Gil-da-Silva-Lopes VL; Vieira TP
Am J Med Genet C Semin Med Genet; 2020 Dec; 184(4):970-985. PubMed ID: 33215817
[TBL] [Abstract][Full Text] [Related]
14. Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.
Chaves TF; Baretto N; Oliveira LF; Ocampos M; Barbato IT; Anselmi M; De Luca GR; Barbato Filho JH; Pinto LLC; Bernardi P; Maris AF
Sci Rep; 2019 Nov; 9(1):17776. PubMed ID: 31780800
[TBL] [Abstract][Full Text] [Related]
15. Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.
Barseghyan H; Pang AWC; Clifford B; Serrano MA; Chaubey A; Hastie AR
Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895217
[TBL] [Abstract][Full Text] [Related]
16. Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel.
Fan X; Huang H; Lin X; Xue H; Cai M; Lin N; Xu L
Risk Manag Healthc Policy; 2021; 14():1431-1438. PubMed ID: 33859509
[TBL] [Abstract][Full Text] [Related]
17. Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis.
Štefeková Andrea; Čapková Pavlína; Curtisová Václava; Mracká Enghjargalan; Filipová Hana; Spurná Zuzana; Procházka Martin; Ľubušký Marek; Pilka Radovan; Vrtěl Radek
Ceska Gynekol; 2023; 88(3):162-171. PubMed ID: 37344181
[TBL] [Abstract][Full Text] [Related]
18. Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder.
Fan Y; Du X; Liu X; Wang L; Li F; Yu Y
Front Genet; 2018; 9():665. PubMed ID: 30619482
[TBL] [Abstract][Full Text] [Related]
19. Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Ghasemi Firouzabadi S; Vameghi R; Kariminejad R; Darvish H; Banihashemi S; Firouzkouhi Moghaddam M; Jamali P; Farbod Mofidi Tehrani H; Dehghani H; Raeisoon MR; Narooie-Nejad M; Jamshidi J; Tafakhori A; Sadabadi S; Behjati F
Int J Mol Cell Med; 2016; 5(4):236-245. PubMed ID: 28357200
[TBL] [Abstract][Full Text] [Related]
20. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
