دانلود مقالات ISI درباره دل، حذف + ترجمه فارسی

تجزیه و تحلیل ذوب با وضوح بالا پلی مورفیسم حذف / قرار دادن: روش جدید برای تشخیص و اندازه گیری کیمریسم مخلوط در پیوند سلول های بنیادی آلوژن

High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation

Keywords: دل، حذف; Deletion/insertion polymorphisms; High resolution melting; Mixed chimerismSCT, stem cell transplantation; HRMA, high resolution melting analysis; DIPs, deletion/insertion polymorphisms; INS, insertion; DEL, deletion; SNPs, single nucleotide polymorphisms;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

A further inv dup/del 9p de novo rearrangement. Reappraisal of 25 instances

Keywords: دل، حذف; dup, duplication; inv, inverted; del, deletion; p, short arm; q, long armChromosome 9; 9p deletion; Inverted 9p duplication

دانلود رایگان متن کامل مقاله ISI 4 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: دل، حذف; 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

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

Keywords: دل، حذف; XP, Xeroderma pigmentosum; XP-A, Xeroderma pigmentosum group A; XP-C, Xeroderma pigmentosum group C; XP-G, Xeroderma pigmentosum group G; del, Deletion; DNA, Deoxyribonucleic acid; OMIM, Online Mendelian Inheritance in Man; KD, Kilo Dalton; PCR, Polymeras

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

Protein modeling of cathepsin C mutations found in Papillon–Lefèvre syndrome

Keywords: دل، حذف; A, adenine; C, cytosine; ctsc, cathepsin C gene; CTSC, cathepsin C protein; del, deletion; DNA, deoxyribonucleic acid; G, guanine; L, leucine; P, proline; PLS, Papillon–Lefèvre syndrome; Q, glutamine; R, arginine; RFLP, restriction fragment length polymor

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

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

Keywords: دل، حذف; 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

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

Keywords: دل، حذف; 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

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

Keywords: دل، حذف; 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

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Keywords: دل، حذف; 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

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: دل، حذف; 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

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

Keywords: دل، حذف; 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

Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 − 652 6N ins/del promoter polymorphism (rs3834129) in breast cancer

Keywords: دل، حذف; AICD, activation-induced cell death; bi-PASA, bi-directional PCR allele-specific amplification; CASP8, caspase-8; DISC, death induced signaling complex; CI, confidence intervals; CRC, colorectal cancer; Del, deletion; EOC, epithelial ovarian cancer; ESCC,

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes

Keywords: دل، حذف; AADC, aromatic l-aminoacid decarboxylase; Ab, antibody(ies); AIRE, autoimmune regulator; APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy; Del, deletion; ELISA, enzyme-linked immunosorbent assay; IFN, interferon; TPH, tryptophan hydr

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

A case of del(13)(q14.2)(q31.3) associated with hypothyroidism, hypertriglyceridemia, hypercholesterolemia and total ophthalmoplegia

Keywords: دل، حذف; BAC, bacterial artificial chromosome; CGH, comparative genomic hybridization; del, deletion; DNA, deoxyribo nucleic acid; EEG, electroencephalography; VLDL, very low density lioproteinChromosome 13q deletion; Ophthalmoplegia; Hypertriglyceridemia; Hyperch

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Maternal homozygocity for a 14 base pair insertion in exon 8 of the HLA-G gene and carriage of HLA class II alleles restricting HY immunity predispose to unexplained secondary recurrent miscarriage and low birth weight in children born to these patients

Keywords: دل، حذف; Bp, base pair; Del, deletion; HYrHLA, class II HLA alleles restricting anti-HY immunity; HY, male-specific minor histocompatibility antigen; LD, linkage disequilibrium; Ins, insertion; RM, recurrent miscarriage; s-HLA-G, soluble HLA-G

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

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

Keywords: دل، حذف; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia; diagnosis; genetic testing; mutationARVC, arrhythmogenic right ventricular cardiomyopathy/dysplasia; cDNA, coding deoxyribonucleic acid; del, deletion; DNA, deoxy

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه

Neuropeptide Y1Receptor NPY1R : Discovery of Naturally Occurring Human Genetic Variants Governing Gene Expression In Cella as Well as Pleiotropic Effects on Autonomic Activity and Blood Pressure In Vivo

Keywords: دل، حذف; hypertension; neuropeptide; geneticsBP, blood pressure; DBP, diastolic blood pressure; Del, deletion; h2, heritability; HR, heart rate; Ins, insertion; LD, linkage disequilibrium; NPY, neuropeptide Y; NPY1R, neuropeptide Y1receptor; SBP, systolic blood pr

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2009 سفارش ترجمه

Insight into the complex genetic network of tetraploid Atlantic salmon (Salmo salar L.): Description of multiple novel Pax-7 splice variants

Keywords: دل، حذف; BLAST, basic local alignment search tool; bp, base pair(s); BSA, Bovine Serum Albumine; cDNA, DNA complementary to RNA; CK2, casein kinase II; del, deletion; dNTP, deoxyribonucleoside triphosphate; gDNA, genomic DNA; HD, homeodomain; ins, insertion; kb, k

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه