المؤلفون: Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett‐Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil‐da‐Silva‐Lopes

المصدر: Jornal de Pediatria (Versão em Português), Vol 93, Iss 5, Pp 497-507 (2017)

مصطلحات موضوعية: DNA copy number variations, Congenital heart defects, 22q11 deletion syndrome, Comparative genomic hybridization, Chromosome aberrations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2255553617300332; https://doaj.org/toc/2255-5536

URL الوصول: https://doaj.org/article/3f3992170e8e45dd87eb85b3d4f77168

المؤلفون: Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M Bonilla, Tânia Kawasaki de Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões

المصدر: PLoS ONE, Vol 13, Iss 11, p e0206683 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/03becdc2e13043aba5cf02ae137b9926

المؤلفون: Wilson Marques, Luciana Cardoso Bonadia, Laura Bannach Jardim, Miriam Coelho Molck, Marcondes C. França, Thiago Mazzo Peluzzo, Amanda Donatti, Iscia Lopes-Cendes

المصدر: The Cerebellum. 18:1143-1146

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Genetic counseling, Compound heterozygosity, 050105 experimental psychology, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, 0501 psychology and cognitive sciences, Genetic Testing, Allele, Child, Genetic testing, Genetics, Sanger sequencing, biology, medicine.diagnostic_test, Point mutation, 05 social sciences, Genetic Profile, Middle Aged, Neurology, Friedreich Ataxia, Frataxin, biology.protein, symbols, Female, Neurology (clinical), medicine.symptom, Brazil, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3138c8c5ce692db94e782731f44b339f
https://doi.org/10.1007/s12311-019-01055-z

المؤلفون: Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira, Milena Simioni, Fabíola Paoli Monteiro

المصدر: Molecular Syndromology. 9:197-204

مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Clinodactyly, Chromosome, Chromosomal translocation, 030105 genetics & heredity, Biology, medicine.disease, Molecular cytogenetics, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, Gene duplication, dup, medicine, Original Article, medicine.symptom, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60a401d4a5594f43804a7357b75bf06
https://doi.org/10.1159/000489870

المؤلفون: Vera Lúcia Gil-da-Silva-Lopes, Carla Rosenberg, Ana Andrade, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Miriam Coelho Molck, Ana Cristina Victorino Krepischi, Diogo Lucas Lima do Nascimento, Simone Appenzeller, Ana Paula Santos, Milena Simioni

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Genotype, Microarray, Chromosomes, Human, Pair 22, Chromosomal translocation, 030105 genetics & heredity, Biology, Genotype phenotype, Correlation, 03 medical and health sciences, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Renal agenesis, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Comparative Genomic Hybridization, Infant, Newborn, Facies, DELEÇÃO DE GENES, Karyotype, medicine.disease, Chromosome Banding, Natural history, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 16

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f471e5ecd5001905eb24cf1bacf2b5ef
https://doi.org/10.1002/ajmg.a.37494

المؤلفون: Miriam Coelho Molck, Milena Simioni, Fabíola Paoli Monteiro, Vera Lúcia Gil-da-Silva-Lopes

المصدر: Journal of Developmental & Behavioral Pediatrics. 36:544-548

مصطلحات موضوعية: Microcephaly, Candidate gene, Pathology, medicine.medical_specialty, Heart Diseases, Heart disease, Developmental Disabilities, Bioinformatics, DiGeorge syndrome, DiGeorge Syndrome, Developmental and Educational Psychology, medicine, Humans, Deletion syndrome, Copy-number variation, Problem Behavior, Comparative Genomic Hybridization, business.industry, medicine.disease, Phenotype, Psychiatry and Mental health, Child, Preschool, Face, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, business, Chromosomes, Human, Pair 8, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202d0374f385745279edd287ddcc7429
https://doi.org/10.1097/dbp.0000000000000197

المؤلفون: Társis Paiva Vieira, Roberta Mazzariol Volpe Aquino, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Vera Lúcia Gil da Silva Lopes, Miriam Coelho Molck, Ana De Miranda Henriques Moura, Elaine Lustosa-Mendes

المصدر: Anais do Congresso de Iniciação Científica da Unicamp.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, Deletion syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::198e3acfb09458627bb3e7a92c4a8cf3
https://doi.org/10.19146/pibic-2017-78807

المؤلفون: Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Fabíola Paoli Monteiro, Milena Simioni, Társis Paiva Vieira

مصطلحات موضوعية: 0301 basic medicine, Genetics, Recurrent respiratory tract infections, Microarray analysis techniques, Low copy repeats, Biology, medicine.disease, Phenotype, Molecular cytogenetics, 03 medical and health sciences, 030104 developmental biology, Novel Insights from Clinical Practice, medicine, Deletion syndrome, Craniofacial, Genetics (clinical), Tetralogy of Fallot

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eac1b86fdbe5dad9a7a331d35f83691
https://europepmc.org/articles/PMC5448466/

المؤلفون: Maria Aparecida Custódio Domingues, Eliane Papa Ambrosio, Fernando Augusto Soares, Silvia Regina Rogatto, Miriam Coelho Molck, Cassia G. T. Silveira, Rafael Malagoli Rocha, Sandra A. Drigo, Vivian de Souza Sacomano, Luiz Paulo Kowalski

المصدر: Tumor Biology. 34:3015-3026

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Gene Dosage, Loss of Heterozygosity, Laser Capture Microdissection, Biology, Loss of heterozygosity, Cyclin D1, medicine, Chromosomes, Human, Humans, Laryngeal Neoplasms, Lymph node, Chromosome Aberrations, Comparative Genomic Hybridization, medicine.diagnostic_test, Microsatellite instability, General Medicine, Middle Aged, Laryngeal Neoplasm, medicine.disease, Immunohistochemistry, medicine.anatomical_structure, Tissue Array Analysis, Lymphatic Metastasis, Carcinoma, Squamous Cell, Female, Microsatellite Instability, Microsatellite Repeats, Comparative genomic hybridization, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e63a7fbd26a00a2ec9c8a72282ddb07
https://doi.org/10.1007/s13277-013-0866-0

المؤلفون: Tânia, Kawasaki de Araujo, Elaine, Lustosa-Mendes, Ana P, Dos Santos, Miriam, Coelho Molck, Roberta, Mazzariol Volpe-Aquino, Vera L, Gil-da-Silva-Lopes

المصدر: Molecular syndromology. 8(4)

مصطلحات موضوعية: Short Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c4fc7e0197e246da1fc13314a6258628
https://pubmed.ncbi.nlm.nih.gov/28690486

المؤلفون: Laiara Cristina de Souza, Matheus de Mello Copelli, Miriam Coelho Molck, Társis Paiva Vieira, Ilária Cristina Sgardioli, Ana Paula Santos, Amanda Sodré Bioto

المصدر: Anais do Congresso de Iniciação Científica da Unicamp.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9e2350daf8a749a8c057d63dbbe36ff3
https://doi.org/10.19146/pibic-2016-51690

المؤلفون: Natalia F. Cagnin, Aguinaldo Luiz Simões, Miriam Coelho Molck, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Milena Simioni, Tânia Kawasaki de Araujo, Allysson Allan de Farias, Fernanda B Barbosa, Fábio R. Torres

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Population, LÚPUS ERITEMATOSO SISTÊMICO, Black People, Single-nucleotide polymorphism, Ancestry-informative marker, Biology, Population stratification, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, Genetics, SNP, Humans, Lupus Erythematosus, Systemic, education, Genetics (clinical), Genetic association, education.field_of_study, Genome, Human, Indians, South American, Case-control study, 030104 developmental biology, Genetics, Population, Evolutionary biology, Case-Control Studies, Female, 030217 neurology & neurosurgery, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815b006f944dd70768d211b9591861df
https://pubmed.ncbi.nlm.nih.gov/28895130

المؤلفون: Miriam Coelho Molck, Társis Paiva Vieira, Ilária Cristina Sgardioli, Matheus de Mello Copelli, Vera Lúcia Gil da Silva Lopes

المصدر: Semina: Ciências Biológicas e da Saúde. 38:198

مصطلحات موضوعية: Oncology, medicine.medical_specialty, education.field_of_study, Population, Biology, Identity by descent, Loss of heterozygosity, Internal medicine, Homologous chromosome, medicine, Etiology, Deletion syndrome, Multiplex ligation-dependent probe amplification, education, Uncertain significance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::03f24f654de7697f90c3c5a5b0c778b9
https://doi.org/10.5433/1679-0367.2017v38n1suplp198

المؤلفون: Miriam Coelho Molck

المساهمون: Lopes, Vera Lúcia Gil da Silva, 1967, Simioni, Milena, 1983, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel, Guerra, Andrea Trevas Maciel, Melo, Mônica Barbosa de, Universidade Estadual de Campinas. Faculdade de Ciências Médicas, Programa de Pós-Graduação em Ciências Médicas, UNIVERSIDADE ESTADUAL DE CAMPINAS

المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

مصطلحات موضوعية: Mycroarray analysis, Sindrome de DiGeorge, Heart disease, Coração - Doenças, DiGeorge syndrome, Análise de microarranjo

وصف الملف: application/pdf; 214 p. : il.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08254848d2dd5d4d06c806af4031f751

المؤلفون: Vera Lúcia Gil-da-Silva-Lopes, Miriam Coelho Molck, Társis Paiva Vieira, Milena Simioni, Ana Carolina Xavier, Ilária Cristina Sgardioli, Ana Paula Santos

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Genetics, Adult, Male, Genetic heterogeneity, Genetic counseling, Chromosomes, Human, Pair 22, Facies, Locus (genetics), Low copy repeats, Biology, Gene duplication, Chromosomal region, Chromosome Duplication, DiGeorge Syndrome, Humans, Abnormalities, Multiple, Female, Copy-number variation, Homologous recombination, Child, Genetics (clinical), Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7ba61f077601fd6991cc15fd60b0f8
https://pubmed.ncbi.nlm.nih.gov/25358462

المؤلفون: Fabíola Paoli Monteiro, Ilária Cristina Sgardioli, Társis Paiva Vieira, Miriam Coelho Molck, Josiane Souza, Milena Simioni, Vera Lúcia Gil-da-Silva-Lopes, Ana Paula Santos

المصدر: European journal of medical genetics. 56(9)

مصطلحات موضوعية: Male, 22q11.2 deletion, 22q11 Deletion Syndrome, Chromosome Breakpoints, Biology, Genetic Heterogeneity, Multiplex-ligation dependent probe amplification, Segmental Duplications, Genomic, Genetics, Humans, Genetics(clinical), Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Genetic heterogeneity, Genotype–phenotype correlation, Distal 22q11.2 deletion, Breakpoint, Karyotype, General Medicine, Microdeletion syndrome, Molecular biology, Atypical copy number abnormalities, Phenotype, Child, Preschool, Chromosomal region, Array genomic Hybridization, Female, Chromosome Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fe455a1653445519d3d5625456fcec
https://pubmed.ncbi.nlm.nih.gov/23886712

المؤلفون: Têmis Maria Félix, Vera Lúcia Gil-da-Silva-Lopes, Ilária Cristina Sgardioli, Erlane Marques Ribeiro, Isabella Lopes Monlleó, Iscia Lopes-Cendes, Claudio E. M. Banzato, Clarissa de Rosalmeida Dantas, Josiane Souza, Marshall Italo Barros Fontes, Gabriela F. Leal, Miriam Coelho Molck, Ana Paula Damiano, Fabíola Paoli Monteiro, Agnes Cristina Fett-Conte, Társis Paiva Vieira

المصدر: European journal of pediatrics. 172(7)

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Adolescent, Cost effectiveness, Chromosomes, Human, Pair 22, Group ii, Population, MEDLINE, Internal medicine, medicine, DiGeorge Syndrome, Humans, Genetic Testing, education, Child, In Situ Hybridization, Fluorescence, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, Palate, Infant, Newborn, Infant, medicine.disease, Surgery, Chromosome Banding, Schizophrenia, Child, Preschool, Pediatrics, Perinatology and Child Health, Practice Guidelines as Topic, Palatal anomalies, Female, Personalized medicine, business, Multiplex Polymerase Chain Reaction, Schizophrenia, Childhood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701f999f4494929b246f5581522d4349
https://pubmed.ncbi.nlm.nih.gov/23440478

المؤلفون: Roberta Mazzariol Volpe-Aquino, Vera Lúcia Gil-da-Silva-Lopes, Miriam Coelho Molck, Tânia Kawasaki de Araujo, Elaine Lustosa-Mendes, Ana Paula Santos

المصدر: ResearcherID

مصطلحات موضوعية: 0301 basic medicine, Genetics, Ectodermal dysplasia, Ectrodactyly, ADULT SYNDROME, Tp63 gene, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, 03 medical and health sciences, TP63, medicine, Limb development, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11deabefda24e2591873de79fc29b518
http://www.karger.com/DOI/10.1159/000470025