Výsledky vyhľadávania - "Genomic Rearrangements and Copy Number Variations"

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Autori: Harvy Velasco Aida M. Bertoli‐Avella Carolina Jaramillo Jaramillo a ďalší

Zdroj: Eur J Hum Genet

Predmety: Adult, Male, 0301 basic medicine, Adolescent, Immunology, Colombia, Gene, Adolescent [MeSH], Female [MeSH], Adult [MeSH], 692/308/2056, Humans [MeSH], Whole Genome Sequencing/standards [MeSH], Middle Aged [MeSH], Colombia [MeSH], Article, Genetic Testing/standards [MeSH], Infant [MeSH], Male [MeSH], 692/308/575, Rare Diseases/genetics [MeSH], Genetic Testing/methods [MeSH], Rare Diseases/diagnosis [MeSH], Child [MeSH], article, Child, Preschool [MeSH], Computational biology, 03 medical and health sciences, Rare Diseases, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Pathology, Humans, Genetic Testing, DNA sequencing, Child, Biology, Immunology and Microbiology, 0303 health sciences, Genome, Whole Genome Sequencing, Genetic Basis of Primary Immunodeficiency Disorders, FOS: Clinical medicine, Cohort, 1. No poverty, Infant, Life Sciences, Middle Aged, Standards and Guidelines for Genetic Variant Interpretation, Genomic Rearrangements and Copy Number Variations, 3. Good health, Child, Preschool, FOS: Biological sciences, Whole genome sequencing, Medicine, Female

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38909121
https://repository.publisso.de/resource/frl:6519929

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Autori: Shantanu Jain Marena Trinidad Thanh Nguyen a ďalší

Zdroj: bioRxiv

Predmety: Clinical significance, Mutation, Missense, Gene, Article, Machine Learning, Computational biology, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, Missense mutation, Biology, Internal medicine, Cerebroside-Sulfatase, Interpretation (philosophy), Genome, 4. Education, Genetic Variation, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Structural Variation, 16. Peace & justice, Computer science, Genomic Rearrangements and Copy Number Variations, Programming language, 3. Good health, Genomic Studies and Association Analyses, Phenotype, FOS: Biological sciences, CAGI, Arylsulfatase A, Protein variant effect predicition, enzyme activity, Medicine

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40055237
https://pubmed.ncbi.nlm.nih.gov/38798479
https://hdl.handle.net/11585/1016062
https://doi.org/10.1007/s00439-025-02731-3

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Autori: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree a ďalší

Prispievatelia: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree a ďalší

Zdroj: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Predmety: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and In Silico Analysis in an Iranian Family with Consanguineous Relationships

Autori: Vahid Omarmeli Alireza Sharafshah Kai-Uwe Levandrowski a ďalší

Zdroj: Current Aging Science. 18:80-85

Predmety: Male, Exome sequencing, FOS: Computer and information sciences, Heredity, Calcium Channels, L-Type, Bioinformatics, DNA Mutational Analysis, Exon, Iran, Gene, Young Adult, Consanguinity, Calcium Channels, T-Type, Human genetics, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Computer Simulation, Missense mutation, Molecular Biology, Biology, In silico, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Molecular Mechanisms of Retinal Degeneration and Regeneration, Pedigree, Genomic Rearrangements and Copy Number Variations, 3. Good health, Phenotype, FOS: Biological sciences, Mutation, Female, Genetic counseling

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38778612

New insights into candidate genes for autism spectrum disorder in 8p23.1 duplication syndrome

Autori: Maytza M. Corrêa Thiago Domingos Corrêa Cíntia Barros Santos-Rebouças a ďalší

Zdroj: Brazilian Journal of Case Reports. 3:16-23

Predmety: FOS: Computer and information sciences, 0301 basic medicine, Candidate gene, Gene duplication, Bioinformatics, Autism, Intellectual disability, Gene, 03 medical and health sciences, Developmental Neuroscience, Neurodevelopmental disorder, Biochemistry, Genetics and Molecular Biology, Genetics, Autism spectrum disorder, Molecular Mechanisms of Cardiac Development and Regeneration, Molecular Biology, Biology, Psychiatry, 2. Zero hunger, 0303 health sciences, Genome, 9. Industry and infrastructure, Life Sciences, Genetic and Neurodevelopmental Aspects of Williams Syndrome, Genomic Rearrangements and Copy Number Variations, 3. Good health, Segmental Duplications, Copy-number variation, FOS: Biological sciences, Medicine, Neuroscience

Diagnostic value of molecular approach in screening for fragile X premutation cases

Autori: Refeat, Miral M. El Saied, Mostafa M. Abdel Raouf, Ehab R.

Zdroj: Ir J Med Sci

Predmety: Male, Cognitive Neuroscience, Real-Time Polymerase Chain Reaction, Gene, Computational biology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Value (mathematics), 0302 clinical medicine, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Fragile x, Machine learning, Genetics, Humans, RNA, Messenger, Child, Biology, Life Sciences, Computer science, 3. Good health, Genomic Rearrangements and Copy Number Variations, Autism Spectrum Disorders, FOS: Biological sciences, Fragile X Syndrome, Mutation, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Original Article, Neuroscience, Fragile X syndrome

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36409419

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

Autori: Hashir Khan Ricardo Harripaul Anna Mikhailov a ďalší

Zdroj: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Predmety: Male, 0301 basic medicine, Exome sequencing, Sanger sequencing, Genotyping, DNA Copy Number Variations, Genotype, Autism Spectrum Disorder, Science, Cognitive Neuroscience, Autism, Population, Gene, Article, Consanguinity, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, Pakistan, Genetic Predisposition to Disease, Pedigree chart, Autism spectrum disorder, Preschool, Child, 10. No inequality, Biology, Alleles, Psychiatry, 0303 health sciences, Homozygote, Life Sciences, Pedigree, Genomic Rearrangements and Copy Number Variations, 3. Good health, Autism Spectrum Disorders, Environmental health, Child, Preschool, FOS: Biological sciences, Mutation, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Female, Neuroscience

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38649688
https://doaj.org/article/c0a0fa5ec9c24957836e4148a61322bb
https://discovery-pp.ucl.ac.uk/id/eprint/10192156/

Hemivertebra with pathogenic microdeletion of chromosome 9

Autori: Yeshey Dorjey Tashi Gyeltshen

Zdroj: Clin Case Rep
Clinical Case Reports, Vol 12, Iss 4, Pp n/a-n/a (2024)

Predmety: Medicine (General), abnormal karyotype, Karyotype, Chromosomal Abnormality, Case Report, Chromosome, spine, Gene, 03 medical and health sciences, R5-920, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology, Prenatal Diagnosis, Health Sciences, chromosomal deletion, Genetics, Pathology, Biology, Psychiatry, 2. Zero hunger, congenital abnormalities, Abnormality, Prenatal Aneuploidy Diagnosis and Screening Techniques, Life Sciences, Impact of Spinal Deformity on Health and Function, Genomic Rearrangements and Copy Number Variations, 3. Good health, FOS: Biological sciences, Pediatrics, Perinatology and Child Health, Medicine, Surgery, Preimplantation Genetic Diagnosis, Trisomy Detection, Anatomy

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38590330
https://doaj.org/article/2e3b6af11c94492798004ee129ff0453

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region

Autori: Rabeya Akter Mim Anjana Soorajkumar Noor Kosaji a ďalší

Zdroj: Brain Behav
Brain and Behavior, Vol 14, Iss 4, Pp n/a-n/a (2024)

Predmety: Male, 0301 basic medicine, Granular Cell Tumor: Clinical and Pathological Characteristics, DNA Copy Number Variations, Genomic imprinting, Prader–Willi syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, Gene, Pathology and Forensic Medicine, Pathological Characteristics, Mice, 03 medical and health sciences, Genomic Imprinting, 15q11–q13 duplication syndrome (Dup15q syndrome), Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Animals, Imprinting (psychology), 10. No inequality, Biology, Alleles, Mammals, Bangladesh, 0303 health sciences, DNA methylation, Life Sciences, Structural Variation, Genomic Imprinting and Parental Gene Expression Control, Genomic Rearrangements and Copy Number Variations, 3. Good health, Segmental Duplications, Phenotype, FOS: Biological sciences, Angelman syndrome, Medicine, Original Article, Female, Gene expression, Angelman Syndrome, Prader-Willi Syndrome, High-Resolution Mapping, chromosome 15q11–q13 region, RC321-571

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38616334
https://doaj.org/article/d2f63ef63fa54a7cabbd9daec83e03d0

Genome Scan for Variable Genes Involved in Environmental Adaptations of Nubian Ibex

Autori: Emmanuel A. Mpolya Vivien J Chebii J. Musembi Mutuku a ďalší

Zdroj: J Mol Evol

Predmety: capra ibex, 0301 basic medicine, Desert adaptation, goats, DNA Copy Number Variations, Genome Evolution and Polyploidy in Plants, Evolutionary biology, Plant Science, Gene, Agricultural and Biological Sciences, Genome adaptations, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Genetics, molecular biology, Animals, genetics, small ruminants, RNA Sequencing Data Analysis, Molecular Biology, Biology, 2. Zero hunger, Nubian ibex, 0303 health sciences, Genome, Adaptation (eye), Copy number variation, Goats, Life Sciences, 15. Life on land, Copy Number Variation, 6. Clean water, Genomic Rearrangements and Copy Number Variations, 3. Good health, Copy-number variation, Phenotype, FOS: Biological sciences, Original Article, genomes, Neuroscience

Popis súboru: application/pdf

Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007/s00239-021-10015-3.pdf
https://pubmed.ncbi.nlm.nih.gov/34142199
https://ui.adsabs.harvard.edu/abs/2021JMolE..89..448C/abstract
https://link.springer.com/article/10.1007/s00239-021-10015-3
https://link.springer.com/content/pdf/10.1007/s00239-021-10015-3.pdf

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Autori: Maria Bejerholm Christensen Amanda M. Levy Nazanin A. Mohammadi a ďalší

Prispievatelia: Maria Bejerholm Christensen Amanda M. Levy Nazanin A. Mohammadi a ďalší

Zdroj: Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
CLINICAL GENETICS

Predmety: 0301 basic medicine, INTELLECTUAL DISABILITY, Intellectual disability, Seizures/complications, Hypotonia, HAPLOINSUFFICIENCY, Neurodevelopmental Disorders/genetics, Gene, 03 medical and health sciences, Neurodevelopmental disorder, Seizures, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Medicine and Health Sciences, Genetics, Humans, Missense mutation, Biology, neurodevelopmental disorder, 0303 health sciences, Movement Disorders/complications, Movement Disorders, MUTATIONS, DELETION, Intellectual Disability/diagnosis, Brain Development, Life Sciences, disorder, Original Articles, Standards and Guidelines for Genetic Variant Interpretation, GENE, ddc, Genomic Rearrangements and Copy Number Variations, ZNF142, language impairement, Phenotype, intellectual disability, Neurodevelopmental Disorders, FOS: Biological sciences, ONSET, epilepsy, Molecular Basis of Rett Syndrome and Related Disorders, Human medicine, movement disorder, movement, Transcription Factors

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35616059
http://hdl.handle.net/10261/367869
https://hdl.handle.net/10067/1891320151162165141
https://repository.uantwerpen.be/docstore/d:irua:13112
https://curis.ku.dk/ws/files/314145844/Biallelic.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10149455/
http://hdl.handle.net/1854/LU-01GSSQW1W69EWCCTCCCZYHD0W2
http://doi.org/10.1111/cge.14165
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2/file/01GSSQXC5BBGYR2SVX5MDTVEPM
https://mediatum.ub.tum.de/1834878

The effect of trisomic chromosomes on spatial genome organization and global transcription in embryonic stem cells

Autori: Mengfan Li Junsheng Yang R. Xiao a ďalší

Zdroj: Cell Prolif

Predmety: 0301 basic medicine, Cell biology, Transcription, Genetic, Genome Evolution and Polyploidy in Plants, Trisomy, Plant Science, Chromosome, Gene, Agricultural and Biological Sciences, Mice, 03 medical and health sciences, Regulation of Chromatin Structure and Function, Biochemistry, Genetics and Molecular Biology, Chromosome Duplication, Genetics, Animals, Molecular Biology, Biology, Embryonic Stem Cells, 0303 health sciences, Genome, Life Sciences, Mouse Embryonic Stem Cells, 3D Genome Organization, Linguistics, Aneuploidy, Transcription (linguistics), Genomic Rearrangements and Copy Number Variations, FOS: Philosophy, ethics and religion, 3. Good health, Nucleosome Positioning, Embryonic stem cell, Philosophy, FOS: Biological sciences, FOS: Languages and literature, Original Article

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38553796

Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data

Autori: Asmaa A. Helal Bishoy T. Saad Mina T. Saad a ďalší

Zdroj: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-22 (2024)

Predmety: 0301 basic medicine, Artificial intelligence, Nanopore sequencing, sequence variation, Genome Evolution and Polyploidy in Plants, 02 engineering and technology, Plant Science, Gene, Agricultural and Biological Sciences, Computational biology, Cognitive psychology, Psychology, Business, Oxford nanopore technology, Marketing, Genome, 4. Education, Statistics, Life Sciences, Genomics, Structural Variation, Mutation detection, Genomic Rearrangements and Copy Number Variations, Programming language, 3. Good health, FOS: Psychology, Benchmarking, sequence alignment, Medicine, Sequence Analysis, Science, False positive paradox, 0206 medical engineering, Article, FOS: Economics and business, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, F1 score, Genetics, FOS: Mathematics, Humans, RNA Sequencing Data Analysis, Molecular Biology, Biology, Precision and recall, Human genome, Structural variations (SVs), Computer science, Nanopore Sequencing, FOS: Biological sciences, Mutation, Recall, Pipeline (software), Structural variation, Mathematics

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38486064
https://doaj.org/article/e0bc5065945e4f8580caa7bcf7b1b77c

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Autori: Asmaa K. Amin Jeremias Krause Thomas Eggermann

Zdroj: Mol Cytogenet
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-5 (2024)
Molecular cytogenetics 17, 5 (2024). doi:10.1186/s13039-024-00672-6

Predmety: FOS: Computer and information sciences, 0301 basic medicine, Bioinformatics, SLC1A2, Karyotype, Epigenetic Modifications and Their Functional Implications, Case Report, QH426-470, Chromosome, Pediatrics, Gene, Silver–Russell syndrome, 03 medical and health sciences, Human genetics, Biochemistry, Genetics and Molecular Biology, 11p13 microduplication syndrome, Genetics, Pathology, Macrocephaly, 10. No inequality, Molecular Biology, Biology, 0303 health sciences, Genome, Uniparental disomy, Life Sciences, Structural Variation, Genomic Imprinting and Parental Gene Expression Control, Genomic Rearrangements and Copy Number Variations, 3. Good health, Copy-number variation, FOS: Biological sciences, Angelman syndrome, Medicine, Differential diagnosis

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38486332
https://doaj.org/article/153e4c9ef32146559747e1e862ef44c1
https://repository.publisso.de/resource/frl:6497659
https://publications.rwth-aachen.de/record/984727

Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity

Autori: Lilia Romdhane S. Kefi Nessrine Mezzi a ďalší

Zdroj: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)

Predmety: 0301 basic medicine, DNA Copy Number Variations, Genotype, Science, Genome Evolution and Polyploidy in Plants, Population, Evolutionary biology, HapMap Project, Plant Science, Polymorphism, Single Nucleotide, Gene, Article, Genetic diversity, Agricultural and Biological Sciences, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, Genetic admixture, International HapMap Project, Genetic variation, Biology, Allele, 2. Zero hunger, 0303 health sciences, Genome, North African People, Human genome, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Copy Number Variation, Genomic Rearrangements and Copy Number Variations, 3. Good health, Copy-number variation, Genetics, Population, Environmental health, FOS: Biological sciences, Medicine

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38409353
https://doaj.org/article/74ddedd6d9b74cfca46ce714398b9c4f

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

Autori: Fatima Ouboukss Zhour El Amrani Hicham Bouchahta a ďalší

Zdroj: Front Genet
Frontiers in Genetics, Vol 15 (2024)

Predmety: 0301 basic medicine, clinical features, Small supernumerary marker chromosome, Genome Evolution and Polyploidy in Plants, Karyotype, Trisomy, Plant Science, QH426-470, Chromosome, Gene, Agricultural and Biological Sciences, 03 medical and health sciences, Cytogenetics, Maternal Plasma DNA Sequencing, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Biology, Genetics (clinical), 2. Zero hunger, 0303 health sciences, chromosome 8 and 14, partial trisomy, complex small supernumerary marker chromosome (sSMC), Life Sciences, Prenatal Aneuploidy Diagnosis and Screening Techniques, Marker chromosome, Supernumerary, Genomic Rearrangements and Copy Number Variations, 3. Good health, Meiosis, FOS: Biological sciences, Pediatrics, Perinatology and Child Health, Breakpoint, Molecular Medicine, Medicine, molecular cytogenetics, Trisomy Detection, Anatomy, Chromosomal translocation, Genetic counseling

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38463166
https://doaj.org/article/d41a9bacfd38469f92632042d1f9a6a3

Emanuel syndrome due to unusual pattern

Autori: Hala T. El‐Bassyouni Engy A. Ashaat Khaled H. Hamed a ďalší

Zdroj: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)

Predmety: 0301 basic medicine, 2. Zero hunger, Medicine (General), 0303 health sciences, Intellectual disability, Life Sciences, QH426-470, Genomic Rearrangements and Copy Number Variations, Chromosomal Aberrations, 3. Good health, Emanuel syndrome, Dysmorphism, 03 medical and health sciences, R5-920, t(11, 22), Biochemistry, Genetics and Molecular Biology, FOS: Biological sciences, Microcephaly, Genetics, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Molecular Mechanisms of Cardiac Development and Regeneration, 10. No inequality, And convulsions, Molecular Biology

Prístupová URL adresa: https://doaj.org/article/eda3043060a542e784738f1cd6a26243

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

Autori: Tingting Zhao Shengnan Wu Yiping Shen a ďalší

Zdroj: Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Predmety: 0301 basic medicine, Retrospective cohort study, China, Genetic testing, Genotype, Developmental delay, Population, Intellectual disability, Pediatrics, Gene, 03 medical and health sciences, Transcription Factor 4, 0302 clinical medicine, Psychological intervention, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, Hyperventilation, Prospective Studies, Child, Molecular Mechanisms of Cardiac Development and Regeneration, Molecular Biology, Internal medicine, Biology, TCF4, Retrospective Studies, Psychiatry, Research, Facies, Life Sciences, Genomic Rearrangements and Copy Number Variations, 3. Good health, Endothelial Cell-Lineage Analysis, Phenotype, Environmental health, Pitt–Hopkins syndrome, FOS: Biological sciences, Genetic diagnosis, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Follow-Up Studies

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38331897
https://doaj.org/article/5b68b4dc7acc4619bc708151bbe77485

Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

Autori: Quentin Hennocq Marjolaine Willems Jeanne Amiel a ďalší

Prispievatelia: Quentin Hennocq Marjolaine Willems Jeanne Amiel a ďalší

Zdroj: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)

Predmety: 0301 basic medicine, Cancer Research, Artificial intelligence, Genotype, Science, Article, 03 medical and health sciences, Artificial Intelligence, Biochemistry, Genetics and Molecular Biology, Phenotype Analysis, Genetics, Humans, Abnormalities, Multiple, 10. No inequality, Biology, Preprocessor, Retrospective Studies, Histone Demethylases, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Pathogenicity Prediction, 4. Education, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Hematologic Diseases, Computer science, Genomic Landscape of Cancer and Mutational Signatures, Genomic Rearrangements and Copy Number Variations, 3. Good health, Phenotype, Vestibular Diseases, Face, FOS: Biological sciences, Mutation, Medicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38282012
https://doaj.org/article/9c5ec937868541c8bad4ceb27187e34f

Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning

Autori: Clemer Abad Maria C. Robayo Sandra Martín Lorenzo a ďalší

Zdroj: Transl Psychiatry
Translational Psychiatry, Vol 14, Iss 1, Pp 1-13 (2024)

Predmety: 0301 basic medicine, Epigenetic Modifications and Their Functional Implications, Neurosciences. Biological psychiatry. Neuropsychiatry, Hypotonia, Haploinsufficiency, GATA Transcription Factors, Gene, Article, Histone Deacetylases, Mice, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Corticogenesis, Genetics, Humans, Animals, Molecular Biology, Biology, 2. Zero hunger, 0303 health sciences, Tumor Suppressor Proteins, Brain Development, Life Sciences, Syndrome, Genomic Rearrangements and Copy Number Variations, 3. Good health, Repressor Proteins, Embryonic stem cell, Phenotype, FOS: Biological sciences, Molecular Basis of Rett Syndrome and Related Disorders, RC321-571, Transcription Factors, Neuroscience

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38238293
https://doaj.org/article/decc1c5afde54ffa8f3b5b3c808252a4