Keywords: Supernumerary marker chromosomes derived from chromosome 19; Chromosome 19 duplications; Copy number variations; Array-CGH;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Array-CGH; array-based Comparative Genomic Hybridization; FISH; Fluorescence In Situ Hybridization; ISCN; International System for Human Cytogenomic Nomenclature; UCSC; University of California, Santa Cruz; TTK; TTK Protein Kinase; BCKDHB; Branched Chain
Keywords: Gene amplification; Neural stem cell differentiation; Array-CGH; qPCR
Keywords: Intellectual disability; Array-CGH; Phenotype; Clinical database
Keywords: array-CGH; embryo aneuploidy; embryo culture; trophectoderm biopsy
The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
Keywords: Chromosomal rearrangement; Corpus callosum; Ä°nvdupdel(8p); Array-CGH; MLPA;
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region
Keywords: Array-CGH; Small region of overlap; 3q29 duplication;
Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm
Keywords: Molecular cytogenetics; myeloid neoplasm; MECOM gene; array-CGH; RTqPCR; chromosome 7; cryptic abnormalities;
Discovering a familial Xp11.4 microduplication: Does the mother matter?
Keywords: XCI; X chromosome inactivation; ID; intellectual disability; GMDS-ER; Griffiths Mental Developmental Scales Extended Revised 0-8â¯years; ADOS; Autism Diagnostic Observation Schedule; ADI-R; Autism Diagnostic Interview-Revised; FISH; fluorescence in sit
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)
Keywords: Hypotrichosis; Lymphedema; Telangiectasia; SOX18; C3 glomerulonephritis; HLTS; Hypotrichosis-Lymphedema-Telangiectasia syndrome; SD; Standard deviation; OFC; Occipitofrontal circumference; CNV; Copy Number Variant; array-CGH; Array comparative genomic hyb
Mutational game changer: Chromothripsis and its emerging relevance to cancer
Keywords: SAC; spindle assembly checkpoint; APOBEC; apolipoprotein B mRNA-editing catalytic subunit; SNP; single-nucleotide polymorphism; array-CGH; comparative genomic hybridization; CLTP; chromothripsis-like pattern; SKY; spectral karyotyping; FISH; fluorescent i
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
Keywords: Feingold syndrome; Keratoconus; Array-CGH; SLITRK1; MBNL2; IPO5; MIR17HG;
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1
Keywords: Brain-lung-thyroid syndrome; NKX2-1; Congenital hypothyroidism; Array-CGH;
In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study
Keywords: Aneuploidy; array-CGH; embryo biopsy; maternal age; PGD-A;
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy
Keywords: 12q22q23.3; Array-CGH; Temporal lobe epilepsy;
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits
Keywords: 9p24.3 deletion; DOCK8; KANK1; Trigonocephaly; Array-CGH;
IL-17 receptor AÂ and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation
Keywords: Adenosine deaminase 2; chronic inflammation; chronic mucocutaneous candidiasis; CECR1; immunodeficiency; IL17RA; vasculitis; whole-genome analyses; ADA; Adenosine deaminase; APC; Allophycocyanin; Array-CGH; Array-based comparative genomic hybridization; C
Short communicationClinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior
Keywords: Array-CGH; array based comparative genomic hybridization; BMI; body mass index; C9orf123 gene; chromosome 9 open reading frame 72; C9orf66 gene; chromosome 9 open reading frame 66; C9orf72 gene; chromosome 9 open reading frame 72; CNVs; copy number variat
Clinical and molecular delineation of a 16p13.2p13.13 microduplication
Keywords: 16p13.3p13.13 duplication; Array-CGH
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia
Keywords: 13q31.1 microdeletion; SPRY2; NDFIP2; Rasopathies; Macroglossia; Macrocephaly; Array-CGH; Prenatal diagnosis
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature
Keywords: 7p22.1; Microduplication syndrome; Language delay; Array-CGH
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
Keywords: Duplication/deletion 4p; Wolf-Hirschhorn syndrome; Trisomy 4p; Array-CGH; Chinese children;
A translocation t(6;14) in two cases of leiomyosarcoma: Molecular cytogenetic and array-based comparative genomic hybridization characterization
Keywords: Leiomyosarcoma; soft tissue sarcoma; translocation; FISH; array-CGH; HMGA1
Clinical reportHeterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature
Keywords: CHL1; 3p26.3 deletion; Language delay; Array-CGH;
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
Keywords: Microdeletion 15q26.1; Epilepsy; Intellectual disability; Array-CGH; CHD2; RGMA
Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion
Keywords: Chromosome 9; Interstitial deletion; Interstitial duplication; Array-CGH; Intrachromosomal paracentric direct insertion
Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome
Keywords: 3q26.33–3q27.2 microdeletion syndrome; Array-CGH; Immunodeficiency; Thrombopoietin/THPO; LAMP3; Growth retardation
Genotype–phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion
Keywords: 12p13.33 Deletion; CACNA1C; Speech delay; Array-CGH; Interstitial deletion; Microcephaly
A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion
Keywords: array-CGH; array comparative genomic hybridization; BAC; bacterial artificial chromosomes; DD; developmental delay; DWM; Dandy Walker malformation; FISH; fluorescence in situ hybridization; ID; intellectual disability; MCB; multicolor banding technique; O
Exceptional complex chromosomal rearrangement and microdeletions at the 4q22.3q23 and 14q31.1q31.3 regions in a patient with azoospermia
Keywords: Array-CGH; array comperative genomic hybridization; GTG; G-banding; FISH; fluorescence in situ hybridization; CCR; complex chromosomal rearrangements; PHA; phytohemagglutinin; AZF; azoospermic factor; PCR; polymerase chain reaction; SRY; sex determinating
A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement
Keywords: CCR; Complex chromosomal rearrangements; MRI; Magnetic resonance ımaging; FISH; Fluorescence in situ hybridization; WCP; Whole chromosome painting; array-CGH; Array-comparative genomic hybridization; UCSC; University of California Santa Cruz; HTR1A; 5-Hy
A small de novo 16q24.1 duplication in a woman with severe clinical features
Keywords: 16q24.1; Duplication; Mental retardation; Array-CGH; QFM-PCR;
Short CommunicationMosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event
Keywords: 5â²UTR; 5â² unstranslated region; Array-CGH; array-Comparative Genomic Hybridization; FMR1; Fragile X Mental Retardation 1 gene; FMRP; Fragile X Mental Retardation Protein; IQ; Intelligence Quotient; PCR; Polymerase Chain Reaction; STR; Short Tandem Rep
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?
Keywords: 3q26.33-3q27.2 microdeletion syndrome; Abnormal dentition; Developmental delay; Growth retardation; Array-CGH;
Short clinical reportMEF2C deletions and mutations versus duplications: A clinical comparison
Keywords: MEF2C; 5q14.3 microduplication syndrome; Array-CGH;
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
Keywords: Autosomal dominant microcephaly; Mental retardation; Array-CGH; DPP6 gene;
Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature
Keywords: FISH; fluorescence in situ hybridization array; CGH; array comparative genomic hybridization; Kb; kilo base; Mb; mega base; CIH; congenital inguinal hernia; PHA; phytohemagglutinin; ISCN 2009; International System for Human Cytogenetic Nomenclature (2009)
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1Â M array-CGH platform
Keywords: Array-CGH; C2ORF80; Disorders of sex development; Gonadal dysgenesis; SUPT3H; PIP5K1B;
Original articleConfirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
Keywords: Chromosomal microarray (CMA); Array-CGH; Developmental delay; Intellectual disability; Neurodevelopmental disorders; Autism spectrum disorders; Dysmorphic features; ASDs; autism spectrum disorders; CMA; chromosomal microarray; DD; developmental delay; ID;
5p13 microduplication syndrome: A new case and better clinical definition of the syndrome
Keywords: NIPBL; 5p13 microduplication syndrome; Array-CGH
Use of array comparative genomic hybridization (array-CGH) for embryo assessment: clinical results
Keywords: Array-CGH; PGS; aneuploidy
Polar body biopsy
Keywords: Polar body biopsy; oocyte; array-CGH; aneuploidy; PGS
Neurological features and long-term follow-up in 15q11.2-13.1 duplication
Keywords: 15q11.2-q13.1 duplication; Epilepsy; Array-CGH; Language
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
Keywords: Microcephaly; Psychomotor retardation; Autism; 16q2122.1 microdeletion syndrome; Congenital heart defects; Array-CGH
Clinical and cytogenetic features of a Potocki–Lupski syndrome with the shortest 0.25 Mb microduplication in 17p11.2 including RAI1
Keywords: Array-CGH; 17p11.2; Duplication; Potocki–Lupski syndrome (PTLS); RAI1
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
Keywords: CdLS; NIPBL deletion; Mosaicism; MLPA; FISH; Array-CGH; Deletion junction
6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder
Keywords: Microdeletion 6p25; Array-CGH; Gyral pattern anomaly; Intellectual disability; Speech and language disorder; LYRM4
Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)
Keywords: arr; microarray; array-CGH; a - to be canceled Array based Comparative Genome Hybridization; Arrow (â); from - to, in detailed system for designating structural chromosome aberrations; ART; Assisted reproductive technology; AZF; Azoospermia Factor; BA
Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation
Keywords: 22q13 duplication; Mental retardation; Interchromosomal insertion; Array-CGH; Malformed hippocampus
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
Keywords: 9q21.13; Interstitial deletion; Mental retardation; Epilepsy; RORB; Array-CGH