المؤلفون: Souza, Carolina F.M., Siqueira, Ana Cecília, Antunes, Natália S., Horovitz, Dafne D.G., Politei, Juan, Lourenço, Charles M., Doriqui, Maria Juliana Rodovalho, Souza, Débora Lima, Galera, Marcial Francis, Abrahão, Leonardo Cury, Matos, Marcos Almeida, Mendes, Pedro Henrique Barros, Magalhães, Tatiana S.P.C

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8

مصطلحات موضوعية: slowly progressive MPS, Morquio A syndrome, Maroteaux-Lamy syndrome, osteoarticular abnormalities, hip dysplasia

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100305

المؤلفون: Paiva, Anderson Rodrigues Brandão de, Pessoa, André Luiz Santos, Nóbrega, Paulo Ribeiro, Moreno, Cristiane Araujo Martins, Lynch, David S, Taniguti, Lucas Mitsuo, Kitajima, João Paulo, Freua, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Peixoto de Barcelos, Isabella, Macedo-Souza, Lúcia Inês, Takeuchi, Carlos Augusto, Garcia, Antônio Milton Silva, Nardes, Flávia, Fontão, Ramiro, Antoniuk, Sérgio Antônio, Troncoso, Monica, Spécola, Norma, Durand, Consuelo, Madeiro, Bianca de Aguiar Coelho Silva, Doriqui, Maria Juliana Rodovalho, Vergara, Diane, Houlden, Henry, Kok, Fernando

المصدر: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2023, Vol. 94 Issue: 5 p405-408, 4p

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Mariath, Luiza Monteavaro, Santin, Juliana Tosetto, Frantz, Jeanine Aparecida, Doriqui, Maria Juliana Rodovalho, Schuler‐Faccini, Lavínia, Kiszewski, Ana Elisa

المصدر: Clinical Genetics; Jan2021, Vol. 99 Issue 1, p29-41, 13p

مصطلحات موضوعية: EPIDERMOLYSIS bullosa, SYMPTOMS, SKIN, AMINO acids, INTEGRINS

المؤلفون: de Carvalho, Acacia Fernandes Lacerda, Alves, Esmeralda Santos, Pitanga, Paula Monique Leite, Ribeiro, Erlane Marques, Doriqui, Maria Juliana Rodovalho, Toralles, Maria Betânia Pereira, Topázio, Bianca Arcaro, dos Santos, Jéssica Fernandes, de Lima, Renata Lúcia Leite Ferreira, Kulikowski, Leslie Domenici, Acosta, Angelina Xavier

المصدر: Journal of Pediatric Genetics; 20240101, Issue: Preprints

المؤلفون: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson

المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257

المؤلفون: de Carvalho AFL; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., Alves ES; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., Pitanga PML; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., Ribeiro EM; Faculty of Medicine Estacio of Juazeiro Norte, Estacio-FMJ, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil., Doriqui MJR; Association of Parents and Friends of Exceptional Children (APAE), São Luiz, Maranhão, Brazil., Toralles MBP; Medical School of Medicine, Medical Genetic Service - Edgard Santos Teaching Hospital/Federal University of Bahia, Salvador, Bahia, Brazil., Topázio BA; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., Dos Santos JF; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., de Lima RLLF; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil., Kulikowski LD; Department of Pathology, Cytogenomics Laboratory - LIM 03, University of São Paulo, São Paulo, Brazil., Acosta AX; Medical School of Medicine, Medical Genetic Service - Edgard Santos Teaching Hospital/Federal University of Bahia, Salvador, Bahia, Brazil.

المصدر: Journal of pediatric genetics [J Pediatr Genet] 2022 Nov 14; Vol. 13 (2), pp. 90-98. Date of Electronic Publication: 2022 Nov 14 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101589859 Publication Model: eCollection Cited Medium: Print ISSN: 2146-4596 (Print) Linking ISSN: 2146460X NLM ISO Abbreviation: J Pediatr Genet Subsets: PubMed not MEDLINE

المؤلفون: Araujo TF; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil., Ribeiro EM; Children's Hospital Albert Sabin, Fortaleza, CE, Brazil.; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil., Arruda AP; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil., Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil., de Medeiros PF; Federal University of Campina Grande, Campina Grande, PB, Brazil., Minillo RM; Children's Clinic, City Hall of Guarulhos, Guarulhos, SP, Brazil., Melo DG; Medical Department, Federal University of de São Carlos (UFSCAR), São Carlos, SP, Brazil., Kim CA; Medical Genetics Unit, Children's Institute, Medical Sciences Faculty, University of São Paulo (FCMUSP), São Paulo, SP, Brazil., Doriqui MJ; Children's Hospital Juvêncio Mattos, São Luís, MA, Brazil., Felix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, RS, Brazil., Fock RA; Centro de Genética Médica da Universidade Federal de São Paulo, São Paulo, SP, Brazil., Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.

المصدر: European journal of medical research [Eur J Med Res] 2016 Aug 24; Vol. 21 (1), pp. 33. Date of Electronic Publication: 2016 Aug 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X (Electronic) Linking ISSN: 09492321 NLM ISO Abbreviation: Eur J Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Pedigree* , Polymorphism, Genetic*, Cathepsin K/*genetics , Pycnodysostosis/*genetics, Brazil ; Female ; Founder Effect ; Homozygote ; Humans ; Male