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78 risultati trovati.

Tipi di risorsa: Libro cartaceo Libro elettronico Articolo Rivista Tesi Capitolo
Ricerca accademica
Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities
Articolo
Articolo
Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities
Cátia Sofia Ferreira Pinto Lourenço et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2021 · ISSN 0100-7203
Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods ...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing
Articolo
Articolo
Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing
Jing Wang et al · BMC · 2026 · ISSN 1479-7364
Abstract Background Antenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic e...
LCC LCC:Medicine; LCC:GeneticsIdioma Inglés
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A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data
Articolo
Articolo
A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data
Lin Chen et al · Springer · 2026 · ISSN 1432-0711
Abstract Objective To investigate the association between ultrasonically detected fetal urinary system abnormalities and chromosomal copy number variations (CNVs) in Heilongjiang Province, northeastern China. Methods Coh...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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An Investigation on the Genetic and Epigenetic Changes of MAGE Family Genes in Breast Cancer Metastasis and Chemoresistance
Articolo
Articolo
An Investigation on the Genetic and Epigenetic Changes of MAGE Family Genes in Breast Cancer Metastasis and Chemoresistance
I Made Kresna Yoga et al · Shiraz University of Medical Sciences · 2026 · ISSN 2008-6709
Background: The investigation of genetic modifications and epigenetic controls within the melanoma antigen gene family (MAGE), the cancer-testis antigen, in breast cancer still remains elusive. The present study aimed to...
LCC TENDOk5lb3BsYXNtcy4gVHVtb3JzLiBPbmNvbG9neS4gSW5jbHVkaW5nIGNhbmNlciBhbmQgY2FyY2lub2dlbnM~Idioma Inglés
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Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome
Articolo
Articolo
Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome
Fanni Szumutku et al · SpringerOpen · 2026 · ISSN 2194-7791
Abstract Background Although 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, a substantial proportion of patients with clinically suspected 22q11.2DS (clin22q11.2) remain without ...
LCC TENDOlBlZGlhdHJpY3M~Idioma Inglés
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Lung Tumor Segmentation in Medical Imaging Using U-NET
Articolo
Articolo
Lung Tumor Segmentation in Medical Imaging Using U-NET
J Jayapradha et al · MMU Press · 2025 · ISSN 2821-370X
Tumors are a deadly condition often triggered by a range of abnormal modifications and genetic abnormalities. Early tumor diagnosis is essential due to the highly concerned nature of the disease. Early detection and trea...
LCC LCC:Electronic computers. Computer science; TENDOkluZm9ybWF0aW9uIHRlY2hub2xvZ3k~Idioma Inglés
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Comprehensive molecular portraits of human breast tumours
Articolo
Articolo
Comprehensive molecular portraits of human breast tumours
The Cancer Genome Atlas Network · Nature · 2012
We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and reverse-phase protein arrays. Our ability to integrate information ac...
Idioma Inglés
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Genetic analysis of biopsy-related droplets in patients undergoing PGT-A and its potential application
Articolo
Articolo
Genetic analysis of biopsy-related droplets in patients undergoing PGT-A and its potential application
Zhiqing Huang et al · Frontiers Media S.A · 2026 · ISSN 1664-2392
PurposePreimplantation genetic testing for aneuploidy (PGT-A) is essential for selecting embryos free from chromosomal abnormalities before transfer. However, challenges such as detection failures, mosaicism, and the lim...
LCC LCC:Diseases of the endocrine glands. Clinical endocrinologyIdioma Inglés
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Genetic and biochemical biomarkers in the macrophyte Bidens laevis L. exposed to a commercial formula of endosulfan
Articolo
Articolo
Genetic and biochemical biomarkers in the macrophyte Bidens laevis L. exposed to a commercial formula of endosulfan
Pérez, Débora Jesabel et al · John Wiley & Sons Inc · 2014 · ISSN 1063-1071
Previous studies in the wetland macrophyte Bidens laevis L have demonstrated that the insecticide endosulfan induces a high frequency of somatic chromosome aberrations in anaphase-telophase (CAAT) but no DNA changes as d...
Idioma Inglés
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Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease
Articolo
Articolo
Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease
Neringa Alisauskaite et al · Oxford University Press · 2020 · ISSN 0891-6640
Abstract Cortical atrophy has been identified using magnetic resonance imaging (MRI) in humans and dogs with Lafora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicates decreased...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma Inglés
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Chromosomal abnormalities in couples with recurrent first trimester abortions
Articolo
Articolo
Chromosomal abnormalities in couples with recurrent first trimester abortions
Rozana Oliveira Gonçalves et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2014 · ISSN 0100-7203
PURPOSE: To investigate the prevalence of chromosomal abnormalities in couples with two or more recurrent first trimester miscarriages of unknown cause. METHODS: The study was conducted on 151 women and 94 partners wh...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS) Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)
Articolo
Articolo
Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS) Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)
Mariana de Almeida Pinto Borges et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2012 · ISSN 0100-7203
A forma atípica e mais severa da síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) ou MRKH tipo II é também conhecida como associação de MURCS, cujo mnemônico significa aplasia/hipoplasia mülleriana (MU), malformaç...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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Frequency of Chromosomal Abnormalities in Products of Conception
Articolo
Articolo
Frequency of Chromosomal Abnormalities in Products of Conception
Thaís Mesquita Alves Teles et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2017 · ISSN 0100-7203
Abstract Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome
Articolo
Articolo
Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome
Yaqi Wang et al · BMC · 2026 · ISSN 1750-1172
Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneou...
LCC LCC:MedicineIdioma Inglés
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The Incidence of Muscle Abnormalities in Broiler Breast Meat – A Review
Articolo
Articolo
The Incidence of Muscle Abnormalities in Broiler Breast Meat – A Review
Xi Huang et al · Springer Nature · 2018 · ISSN 2636-0772
Abstract The dramatic improvements in the growth rate and breast muscle size and yield in broilers through the intensive genetic selection, and the improvement in nutrition and management over the past 50 years have intr...
LCC TENDOkZvb2QgcHJvY2Vzc2luZyBhbmQgbWFudWZhY3R1cmU~; LCC:Animal cultureIdioma Inglés
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A potential early clinical phenotype of necrotizing meningoencephalitis in genetically at‐risk pug dogs
Articolo
Articolo
A potential early clinical phenotype of necrotizing meningoencephalitis in genetically at‐risk pug dogs
Rebecca Windsor et al · Oxford University Press · 2022 · ISSN 0891-6640
Abstract Background Necrotizing meningoencephalitis (NME) in the pug dogs is a fatal neuroinflammatory disease associated with rapid progression and poor response to conventional immunosuppressive therapy. Diagnosis is t...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma Inglés
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Hemophilia in Women: Beyond the Carrier State - Clinical, Genetic, and Diagnostic Challenges
Articolo
Articolo
Hemophilia in Women: Beyond the Carrier State - Clinical, Genetic, and Diagnostic Challenges
Sylwia Haba et al · Nicolaus Copernicus University in Toruń · 2026 · ISSN 2450-3118
Background: Hemophilia is a genetic bleeding disorder resulting from a deficiency of specific coagulation factors. The most common forms, hemophilia A and B, are X-linked and mainly affect males, with females usually bei...
LCC TENDOlNwb3J0cw~~; TENDOlNwb3J0cyBtZWRpY2luZQ~~Idioma Inglés
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Sensitivity and specificity of a novel preimplantation genetic test for aneuploidy (PGT-A) test detecting the presence and origin of the error: creation of haploid embryos as controls
Articolo
Articolo
Sensitivity and specificity of a novel preimplantation genetic test for aneuploidy (PGT-A) test detecting the presence and origin of the error: creation of haploid embryos as controls
Santiago Munne et al · BMJ Publishing Group · 2025 · ISSN 3050-2551
Introduction Conventional PGT-A methods using NGS sequencing can not detect polyploidy or haploidy, embryo parental origin, or differentiate between mitotic and meiotic abnormalities. To be detected, SNP analysis is need...
LCC LCC:GeneticsIdioma Inglés
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Ultrassonografia obstétrica entre a 11ª e a 14ª semanas: além do rastreamento de anomalias cromossômicas Obstetric ultrasound between the 11th and 14th weeks: beyond the screening for chromosomal abnormalities
Articolo
Articolo
Ultrassonografia obstétrica entre a 11ª e a 14ª semanas: além do rastreamento de anomalias cromossômicas Obstetric ultrasound between the 11th and 14th weeks: beyond the screening for chromosomal abnormalities
Cleisson Fábio Andrioli Peralta et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2011 · ISSN 0100-7203
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A CNTNAP1 Missense Variant Associated With Laryngeal Paralysis and Polyneuropathy in Young Great Dane Dogs
Articolo
Articolo
A CNTNAP1 Missense Variant Associated With Laryngeal Paralysis and Polyneuropathy in Young Great Dane Dogs
G. Diane Shelton et al · Oxford University Press · 2025 · ISSN 0891-6640
ABSTRACT Background Major genetic risk loci and causative mutations classified as LPN1 (Leonberger polyneuropathy type 1), LPN2 (Leonberger polyneuropathy type 2), and LPPN3 (Laryngeal paralysis polyneuropathy type 3) ha...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma Inglés
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Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs
Articolo
Articolo
Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs
A.‐C. Merveille et al · Oxford University Press · 2014 · ISSN 0891-6640
Background Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English S...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma Inglés
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Clinical, neuroimaging, and biomarker profiling of four Alzheimer’s disease pedigrees caused by pathogenic APP variants
Articolo
Articolo
Clinical, neuroimaging, and biomarker profiling of four Alzheimer’s disease pedigrees caused by pathogenic APP variants
Jie-Wen Zhang et al · BMC · 2026 · ISSN 1758-9193
Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...
LCC LCC:Neurosciences. Biological psychiatry. Neuropsychiatry; LCC:Neurology. Diseases of the nervous systemIdioma Inglés
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Complicações materno-fetais da biópsia de vilo corial: experiência de um centro especializado do Nordeste do Brasil Fetal and maternal complications of chorionic villus sampling: results from a specialized center in the Northeast of Brazil
Articolo
Articolo
Complicações materno-fetais da biópsia de vilo corial: experiência de um centro especializado do Nordeste do Brasil Fetal and maternal complications of chorionic villus sampling: results from a specialized center in the Northeast of Brazil
Antonio Carlos Vieira Lopes et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2007 · ISSN 0100-7203
OBJETIVO: avaliar complicações maternas e fetais após realização de biópsia de vilo corial (BVC) para diagnóstico pré-natal de alterações genéticas, na cidade de Salvador (BA). MÉTODOS: série de 958 gestante...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma Inglés
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Fenótipo de subfertilidade, polimorfismos cromossômicos e falhas de concepção Subfertility phenotype, chromosome polymorphism and conception failures
Articolo
Articolo
Fenótipo de subfertilidade, polimorfismos cromossômicos e falhas de concepção Subfertility phenotype, chromosome polymorphism and conception failures
Cássia de Lourdes Campanho et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2011 · ISSN 0100-7203
OBJETIVO: avaliar a prevalência de alterações citogenéticas e polimorfismos cromossômicos em casais com fenótipo de subfertilidade em uma população brasileira. MÉTODOS: foram avaliados 1.236 cariótipos de casai...
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