دانلود مقالات ISI درباره aCGH، Arbridge Hybridization مقایسه ژنومی + ترجمه فارسی

تجزیه و تحلیل میکرواروسای کروموزومی افراد متوالی با اختلالات طیف اوتیسم یا ناتوانی یادگیری ارائه خدمات ژنتیکی

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; A2BP1, ataxin 2-binding protein 1 gene; ACADL, acyl-coA dehydrogenase, long chain gene; aCGH, array comparative genomic hybridization; ACOXL, acyl-coA oxidase-like gene; ADIPOQ, adipocyte-, C1q-, and collagen domain containing gene; ANKRD11, ankyrin repea

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

ریشه کاهش باروری در زنان سالخورده و گزینه های درمان جسمی: ​​وضعیت فعلی و آینده چشم انداز

The root of reduced fertility in aged women and possible therapentic options: Current status and future perspects

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; AFC, antral follicle count; AMH, Anti-Müllerian hormone; ART, assisted reproductive technology; BMT, bone marrow transplantation; CC, clomiphene citrate; CGH, comparative genomic hybridization; Dnmt, DNA meth

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2014 سفارش ترجمه

تشخیص تغییرات نسخه کوچک تعداد (CNV) در اختلال طیف اوتیسم (ASD) توسط آرایه سفارشی مقایسه هیبریداسیون ژنومی (aCGH)

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; CNV, copy number variation; MLPA, multiplex ligation probe amplification; NGS, next generation sequencingAutism; Copy number variation; Comparative genomic hybridization; Neurodevelopmental disorder; MBD2; SL

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; CK, creatine kinase; UPD, uniparental disomy; DAG, diacylglycerol; PA, phosphatidic acidCreatine kinase; Rhabdomyolysis; LPIN1; Lipin-1; Chromosome 2; Uniparental disomy; Treatment

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

A novel 47.2 Mb duplication on chromosomal bands Xq21.1–25 associated with mental retardation

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; CNV, copy number variation; MR, mental retardation; aCGH, array comparative genomic hybridization; Mb, megabase; NMD, nonsense-mediated mRNA decay; OMIM, Online Mendelian Inheritance in Man; RT-PCR, reverse transcription polymerase chain reaction; XLMR, X

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; miRNAs, microRNAs; Lingo2, leucine rich repeat and Ig domain containing 2; aCGH, array comparative genomic hybridization; DGV, Database of Genomic Variants; Hh, HedgehogCraniofacial; Developmental defect; Haploinsufficiency; Hedgehog; miR-873; miR-876

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; FSH, follicle stimulating hormone; LH, luteinizing hormone; E2, estradiol; del, deletion; der, derivative chromosome; dup, duplication; t, translocation; OMIM, Online Mendelian Inheritance in Man; FISH, fluor

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, Array comparative genomic hybridization; BAC, Bacterial artificial chromosome; CER1, Cerberus 1; Chr9, Chromosome 9; CT, Computerized tomography; DMRT 1,2,3, Doublesex and Mab.3 related transcription factor -1, -2 and -3; DOCK8, Dedicator of cytokin

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; OFC, occipitofrontal circumference; BERA, brainstem evoked response audiometry; aCGH, array comparative genomic hybridization; CNV, copy number variation; FISH, fluorescence in situ hybridization; ASD, autism spectrum disorder7q deletion; Comparative geno

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Deletion of the last exon of SHANK3 gene produces the full Phelan–McDermid phenotype: A case report

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; ASD, autism spectrum disorders; PSD, postsynaptic density; aCGH, array comparative genomic hybridization; DSM-IV, diagnostic and statistical manual-IV; MLPA, multiplex ligation-dependent probe amplification22q13 deletion; Autism; Developmental regression;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

An interstitial deletion of 8q23.3–q24.22 associated with Langer–Giedion syndrome, Cornelia de Lange syndrome and epilepsy

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; OMIM, Online Mendelian Inheritance in Man; EDS, Ehlers–Danlos syndrome; TRPS, trichorhinophalangeal syndrome; del, deletion; LGS, Langer–Giedion syndrome; CDLS4, Cornelia de Lange syndrome-4; QF-PCR, quantita

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; OMIM, Online Mendelian Inheritance in Man; QF-PCR, quantitative fluorescent polymerase chain reaction; CVS, chorionic villus sampling; FISH, fluorescence in situ hybridization; CNS, central nervous system; de

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1 → q31.1)

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; AVSD, atrioventricular septal defect; del, deletion; BAC, bacterial artificial chromosome; aCGH, array comparative genomic hybridization; FISH, fluorescence in situ hybridization; QF-PCR, quantitative fluorescent polymerase chain reaction; MoM, multiples

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; MoM, multiples of the median; AFP, α-fetoprotein; r(21), ring chromosome 21; idic r(21), isodicentric ring chromosome 21; aCGH, array comparative genomic hybridization; FISH, fluorescence in situ hybridization; BAC, bacterial artificial chromosome; i(12p)

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Prenatal diagnosis of de novo interstitial deletions involving 5q23.1–q23.3 and 18q12.1–q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; BAC, bacterial artificial chromosome; FISH, fluorescence in situ hybridization; OMIM, Online Mendelian Inheritance in Man; QF-PCR, quantitative fluorescent polymerase chain reaction; del, deletion; NCBI, Nati

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; FISH, fluorescence in situ hybridization; del, deletion; idic, isodicentric chromosome; r, ring chromosome; mar, marker chromosome; AFP, α-fetoprotein; β-hCG, β-human chorionic gonadotrophin; uE3, unconjugate

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, Array comparative genomic hybridization; HPE, Holoprosencephaly; del, Deletion; PMA, Premaxillary agenesis; OMIM, Online Mendelian Inheritance in Man; FISH, Fluorescence in situ hybridization; BAC, Bacterial artificial chromosome; QF-PCR, Quantitati

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; OMIM, Online Mendelian Inheritance in Man; sSMC, small supernumerary marker chromosome; aCGH, array comparative genomic hybridization; FISH, fluorescence in situ hybridization; del, deletion; der, derivative chromosome; r, ring chromosome; mar, marker chr

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; Neuroblastoma; 11q syndrome; MYCN; OncogeneARSH, ARSE, ARSD, arilsulphatases genes; aCGH, array comparative genomic hybridization; CR, critical region; DECIPHER, database of chromosomal imbalance and phenotype in humans using ensembl resources; DGV, datab

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2013 سفارش ترجمه

1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, Array comparative genomic hybridization; CNV, Copy Number Variation; CPLX, Complexin-1; CTBP1, C-terminal binding protein 1; DCE, difficult to control epilepsy; DGKQ, Diacylglycerol kinase, theta; EEG, Electroencephalography; FGFRL1, fibroblast grow

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Taxane resistance in breast cancer: A closed HER2 circuit?

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; 4EBP1, factor 4E binding protein 1; ABCB1, ATP-binding cassette, sub-family B (MDR/TAP), member 1; ABCC3, ATP-binding cassette, sub-family C, member 3; aCGH, array comparative genomic hybridization; ASK1, apoptosis regulating signal kinase 1; BCL2, B-cell

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2012 سفارش ترجمه

Potential of fungi as category I Consolidated BioProcessing organisms for cellulosic ethanol production

Keywords: aCGH، Arbridge Hybridization مقایسه ژنومی; aCGH, array comparative genomic hybridization; ADH, alchol dehydrogenase; ARS, autonomous replicating sequence; ATMT, Agrobacterium tumefaciens-Mediated Transformation; AXE, acetyl xylan esterase; BG, Brewer's spent grain; CAE, p-coumaroyl esterase; CAZy,

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2012 سفارش ترجمه