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1دورية أكاديمية
المؤلفون: Malú Zamariolli, Mileny Colovati, Mariana Moysés‐Oliveira, Natália Nunes, Leonardo Caires dos Santos, Ana B. Alvarez Perez, Silvia Bragagnolo, Maria Isabel Melaragno
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
مصطلحات موضوعية: candidate genes, oculo‐auriculo‐vertebral spectrum (OAVS), sequencing, SNVs, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Mirlene C. S. P. Cernach, Angela Flávia Logullo Waitzberg, Ana B. Alvarez Perez, Eduardo Perrone, Thiago Rodrigues Cavole, Felipe S. Castro
المصدر: American Journal of Medical Genetics Part A. 182:1473-1476
مصطلحات موضوعية: Genetics, Gene mutation, Biology, medicine.disease, Serine, PHGDH Gene, medicine, NLS, Missense mutation, Neu-Laxova syndrome, Phosphoglycerate dehydrogenase, Pathological, Genetics (clinical)
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المؤلفون: Fernanda Teixeira da Silva Bellucco, Ana B. Alvarez Perez, Rodrigo Ambrosio Fock, Hélio Rodrigues de Oliveira-Junior, Maria Isabel Melaragno
المصدر: Cytogenetic and Genome Research. 156:173-178
مصطلحات موضوعية: 0301 basic medicine, Adolescent, Chromosomes, Human, Pair 21, Marker chromosome, Genetic counseling, Chromosomal translocation, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Chromosome Duplication, Gene duplication, Genetics, Humans, Multiplex ligation-dependent probe amplification, Molecular Biology, Small supernumerary marker chromosome, Genetics (clinical), Chromosome Aberrations, 030219 obstetrics & reproductive medicine, Chromosome, Chromosome Banding, Cytogenetic Analysis, Female, Maternal Inheritance, Chromosomes, Human, Pair 4, SNP array
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e770a72b6b2638fd9b4e6f905bb57d0
https://doi.org/10.1159/000494682 -
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المؤلفون: Mileny E. S. Colovati, Silvia Bragagnolo, Mariana Moysés-Oliveira, Ana B. Alvarez Perez, Malú Zamariolli, Natalia Neto Dos Santos Nunes, Maria Isabel Melaragno, Leonardo Caires Santos
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)مصطلحات موضوعية: Male, 0301 basic medicine, Untranslated region, Candidate gene, lcsh:QH426-470, Adolescent, Developmental Disabilities, In silico, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, oculo‐auriculo‐vertebral spectrum (OAVS), Untranslated Regions, Genetics, Humans, Child, Molecular Biology, Gene, Genetics (clinical), Adaptor Proteins, Signal Transducing, Sanger sequencing, Otx Transcription Factors, Genetic heterogeneity, Infant, Nuclear Proteins, Original Articles, sequencing, Phenotype, CRKL, lcsh:Genetics, 030104 developmental biology, Child, Preschool, symbols, Original Article, SNVs, Female, candidate genes
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المؤلفون: Maria Isabel Melaragno, Roberta Santos Guilherme, Malú Zamariolli de Souza, Ana B. Alvarez Perez, Mileny E. S. Colovati, Silvia Bragagnolo, Anelisa Gollo Dantas, Maria F. de Soares
المصدر: Cytogenetic and Genome Research. 150:17-22
مصطلحات موضوعية: Adult, 0301 basic medicine, Candidate gene, Chromosome Breakpoints, Chromosomal translocation, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Child, Molecular Biology, Wolf–Hirschhorn syndrome, Genetics (clinical), Dermoid Cyst, Chromosomes, Human, X, Wolf-Hirschhorn Syndrome, Microarray analysis techniques, Microtia, Infant, Karyotype, medicine.disease, Chromosome Banding, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b9d879861410e30077dd2e1486ac6e2
https://doi.org/10.1159/000452237 -
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المؤلفون: Malú Zamariolli de Souza, Maria Isabel Melaragno, Ana B. Alvarez Perez, Anelise G. Dantas, Maria Fernanda Soares, Mileny E. S. Colovati, Silvia Bragagnolo
المصدر: American journal of medical genetics. Part A. 176(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Candidate gene, Adolescent, DNA Copy Number Variations, Goldenhar syndrome, 030105 genetics & heredity, Biology, 03 medical and health sciences, symbols.namesake, Young Adult, Goldenhar Syndrome, Genetics, medicine, Prevalence, Humans, Copy-number variation, Child, Genetics (clinical), Genetic Association Studies, Chromosome Aberrations, Microtia, Infant, Newborn, Infant, Middle Aged, medicine.disease, Phenotype, Hemifacial microsomia, 030104 developmental biology, Child, Preschool, Cytogenetic Analysis, Mendelian inheritance, symbols, Multifactorial Inheritance, Female
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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Nara Sobreira, Ana B. Alvarez Perez, Kimberly F. Doheny, Decio Brunoni, Maria de Fátima de Faria Soares, Renata Moldenhauer Minillo, Kurt N. Hetrick, Hua Ling, Julie Jurgens, David Valle
المصدر: Molecular Syndromology. 5:268-275
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Phenotype, Bone morphogenetic protein 1, 03 medical and health sciences, PEDF, PPIB, Osteogenesis imperfecta, Genotype, Medicine, business, Gene, Genetics (clinical), 030304 developmental biology, Founder effect
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المؤلفون: Leslie Domenici Kulikowski, Maria Isabel Melaragno, Roberta Santos Guilherme, Sylvia Satomi Takeno, Ana B. Alvarez Perez, Ahmed B. Hamid, M.M. Oliveira, Elisabeth Klein, Thomas Liehr, A.R.N. Dutra
المصدر: Cytogenetic and Genome Research. 139:284-288
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Marker chromosome, Chromosome Disorders, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Genetics, medicine, Humans, Abnormalities, Multiple, Multiplex ligation-dependent probe amplification, Molecular Biology, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Human, Pair 14, medicine.diagnostic_test, Infant, Newborn, Infant, Chromosome, Forkhead Transcription Factors, Karyotype, Chromosome Banding, Phenotype, Child, Preschool, Chromosome 20, Multiplex Polymerase Chain Reaction, Chromosomes, Human, Pair 8, Fluorescence in situ hybridization, SNP array
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المؤلفون: Vera Ayres Meloni, Mariana Moysés-Oliveira, Nadezda Kosyakova, Ana B. Alvarez Perez, Gianna Carvalheira, Mauro Abi Haidar, Renata Ueta, Roberta Santos Guilherme, Rosane Seidler Canonaco, Anelisa Gollo Dantas, Thomas Liehr, Maria Isabel Melaragno
المصدر: Fertility and sterility. 103(5)
مصطلحات موضوعية: Candidate gene, LIM-Homeodomain Proteins, Muscle Proteins, Chromosomal translocation, Nerve Tissue Proteins, Biology, Translocation, Genetic, Chromosome Painting, Chromosome Breakpoints, Risk Factors, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Gene, Amenorrhea, Genetic Association Studies, In Situ Hybridization, Fluorescence, Retrospective Studies, Genetics, Chromosomes, Human, X, Comparative Genomic Hybridization, Autosome, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Breakpoint, Obstetrics and Gynecology, DNA-Binding Proteins, Fibroblast Growth Factors, Position effect, Fertility, Phenotype, Reproductive Medicine, Gene Expression Regulation, Female, Fluorescence in situ hybridization, Transcription Factors