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1
المؤلفون: Beatriz Gonçalves Ferraz, Siulan Vendramini-Pittoli, Luiz Paulo Gomes, Michele Madeira Brandão, Nivaldo Alonso, Cristiano Tonello
المصدر: Journal of Craniofacial Surgery.
مصطلحات موضوعية: Otorhinolaryngology, Surgery, General Medicine
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2
المؤلفون: Luiz Paulo Gomes, Beatriz Gonçalves Ferraz, Michele Madeira Brandão, Nivaldo Alonso, Siulan Vendramini Pittoli, Cristiano Tonello
المصدر: Journal of Craniofacial Surgery.
مصطلحات موضوعية: Otorhinolaryngology, Surgery, General Medicine
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3
المؤلفون: Henrique R. Serigatto, Nancy M. Kokitsu-Nakata, Priscila P. Moura, Siulan Vendramini-Pittoli, Luiza A. Virmond, Adriano P. Peixoto, Cristiano Tonello, Luciano A. Brito, Maria R. Passos-Bueno, Roseli M. Zechi-Ceide
المصدر: Clinical dysmorphology. 32(1)
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine
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4
المؤلفون: Siulan Vendramini-Pittoli, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, David R. FitzPatrick, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, Lucilene Arilho Ribeiro-Bicudo, Fernanda Sarquis Jehee
المساهمون: Clinical Genetics
المصدر: J Pediatr Genet
Journal of Pediatric Genetics, 09(04), 258-262. Georg Thieme Verlagمصطلحات موضوعية: Proband, 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, 030305 genetics & heredity, chemical and pharmacologic phenomena, HCCS, medicine.disease, Corpus callosum, Short stature, Microphthalmia, 03 medical and health sciences, 0302 clinical medicine, Agenesis, Pediatrics, Perinatology and Child Health, medicine, Craniofacial, medicine.symptom, business, AMELX, 030217 neurology & neurosurgery, Genetics (clinical)
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5
المؤلفون: Fernanda Sarquis Jehee, Madelief Overes, Siulan Vendramini-Pittoli, Cristiano Tonello, Rejane A.C. Monteiro, Roseli Maria Zechi-Ceide, Juliana F. Mazzeu, Roza Ali-Amin, Nancy Mizue Kokitsu-Nakata, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Lies H. Hoefsloot, Marjon van Slegtenhorst, Mariana Lacerda de Freitas
المساهمون: Clinical Genetics
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, ANORMALIDADES CRANIOFACIAIS, Oral cleft, business.industry, 030105 genetics & heredity, Semilobar holoprosencephaly, medicine.disease, Encephalocele, 03 medical and health sciences, 030104 developmental biology, Holoprosencephaly, Bilateral cleft lip, Genetics, medicine, Craniofacial, Agenesis of the corpus callosum, business, Genetics (clinical), Exome sequencing
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6
المؤلفون: Maria Leine Guion-Almeida, Paolo Uva, Eleonora Palagano, Dario Strina, Nancy Mizue Kokitsu-Nakata, Jeanne Amiel, Clémantine Dimartino, Cristina Sobacchi, Roseli Maria Zechi-Ceide, Christopher T. Gordon, Siulan Vendramini-Pittoli, Anna Villa
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Bone (New York, NY) 153 (2021). doi:10.1016/j.bone.2021.116152
info:cnr-pdr/source/autori:Palagano E.; Gordon C.T.; Uva P.; Strina D.; Dimartino C.; Villa A.; Amiel J.; Guion-Almeida M.L.; Vendramini-Pittoli S.; Kokitsu-Nakata N.M.; Zechi-Ceide R.M.; Sobacchi C./titolo:A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects/doi:10.1016%2Fj.bone.2021.116152/rivista:Bone (New York, NY)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:153مصطلحات موضوعية: Genetics, PIGB gene, Histology, Physiology, Acrofrontofacionasal dysostosis, Glycosylphosphatidylinositols, Endocrinology, Diabetes and Metabolism, Biology, medicine.disease, Phenotype, CONVULSÕES, Mannosyltransferases, Exon skipping, Seizures, Neuroblastoma, Mutation, medicine, Humans, Gene, Acrofrontofacionasal dysostosis type 1, Function (biology), Cellular localization, Mandibulofacial Dysostosis, Sequence (medicine)
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7
المؤلفون: Siulan Vendramini-Pittoli, Vanessa Luiza Romanelli Tavares, Renato da Silva Freitas, Simone Gomes Ferreira, Maria Leine Guion-Almeida, Gabriella Shih Ping Hsia, Christopher T. Gordon, Débora Romeo Bertola, Guilherme L. Yamamoto, Nancy Mizue Kokitsu-Nakata, Suzana A. M. Ezquina, Mayana Zatz, Jeanne Amiel, Roseli Maria Zechi-Ceide, Cesar Augusto Raposo-Amaral, Josiane Souza, Maria Rita Passos-Bueno
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, VARIAÇÃO GENÉTICA, PLCB4, Micrognathism, Phospholipase C beta, Gene Expression, GTP-Binding Protein alpha Subunits, Gi-Go, Biology, Condyle, 03 medical and health sciences, Terminology as Topic, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic variability, Craniofacial, Child, Ear Diseases, Genetics (clinical), Genes, Dominant, Endothelin-1, Pierre Robin Syndrome, High-Throughput Nucleotide Sequencing, Ear, Anatomy, medicine.disease, Dermatology, Phenotype, Pedigree, 030104 developmental biology, Dysplasia, Mutation, Female, Abnormality, Rare disease
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8
المؤلفون: Rolando Prada, Tatiana Pineda Buitrago, Cristiano Tonello, Hallvard Reigstad, Rameshwar Prasad, Jennifer Henkind, Brooke Meader, Natalie D. Shaw, Susan Kim, Bianca E Russell, Janice Lee, John M. Graham, Gazal Arora, Kathleen A. Williamson, Nancy Mizue Kokitsu-Nakata, Ravikumar Balasubramanian, Rita Volochayev, Yline Capri, Stephanie B. Seminara, Kaoru Inoue, Jennifer R. Law, Germaine Y Noukelak, Orlando Perez, Andrew A. Dwyer, Laura J. Chalmers, Uttam Mondal, Angela Delaney, Konstantinia Almpani, Kathryn B Salnikov, Janet E. Hall, Roseli Maria Zechi-Ceide, Kosuke Morioka, Katharina Steindl, Chie-Hee Cho, Jose Elias Garcia, Gisele da Silva Dalben, Lacey Plummer, William F. Crowley, Christina Jacobsen, Michiyo Mizota, Angela E. Lin, Angela M. Kaindl, Anita Rauch, Nicole P DiOrio, Scott A. Clements, Siulan Vendramini-Pittoli
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
J Clin Endocrinol Metabمصطلحات موضوعية: Male, 0301 basic medicine, Olfactory system, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Cohort Studies, Gonadotropin-Releasing Hormone, Olfaction Disorders, 0302 clinical medicine, Endocrinology, Medicine, Child, Neurons, GnRH Neuron, Clinical Research Article, Reproductive function, FENÓTIPOS, Olfactory Pathways, Organ Size, Middle Aged, Hypothalamus, Child, Preschool, Female, Luteinizing hormone, hormones, hormone substitutes, and hormone antagonists, Adult, endocrine system, medicine.medical_specialty, Adolescent, Neurogenesis, Context (language use), Nose, Young Adult, 03 medical and health sciences, Internal medicine, Humans, Abnormalities, Multiple, Gonads, Aged, Breast development, business.industry, Hypogonadism, Biochemistry (medical), Infant, Luteinizing Hormone, 030104 developmental biology, Follicle Stimulating Hormone, business, 030217 neurology & neurosurgery, Hormone
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9
المؤلفون: Bruno F. Gamba, Lucilene Arilho Ribeiro-Bicudo, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Ana C.V. Krepischi Santos, Carla Rosenberg, Roseli Maria Zechi-Ceide, Antonio Richieri-Costa
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Microcephaly, medicine.medical_specialty, business.industry, Skeletal anomalies, DELEÇÃO DE GENES, Dysmorphic face, Scoliosis, Anatomy, Audiology, medicine.disease, DUF1220, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Novel Insights from Clinical Practice, Intellectual disability, Genetics, Medicine, Multiple skeletal anomalies, Deletion syndrome, business, 030217 neurology & neurosurgery, Genetics (clinical)
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10
المؤلفون: Patrícia P.O. Rocha, Juliana G. Giannetti, Marzia Pollazzon, Alessandro Iodice, Maria Marinelli, Satz Mengensatzproduktion, Ilaria Kolobova, Elvis C. Mateo, Patrícia R. de M. Lima, Manuela Napoli, Ivan Ivanovski, Tiong Yang Tan, Martin Poot, Elga Fabia Belligni, Joziele de S. Lima, Siulan Vendramini-Pittoli, Livia Garavelli, Rafaella X. Pietra, Bruno F. Gamba, Carlo Fusco, Charles Coutton, Veronica Barbieri, Giovana da C. César, Roseli Maria Zechi-Ceide, Mariana Lacerda de Freitas, Luana Assis Ferreira, Paula Frassinetti Vasconcelos de Medeiros, Gabrielle S. Vianna, Michele da S. Gonçalves, Nicky Kilpatrick, Francesca Madia, Anthony J. Penington, Chiara Sartori, Jessie X. Xu, Nancy Mizue Kokitsu-Nakata, Manuela Mussini, Fernanda S. Jehee, Fabrizia Franchi, Maria E. Street, Carla Rosenberg, Patrick Yap, Liam Crapper, Antonio Richieri-Costa, Rejane A.C. Monteiro, Rosana R. Xavier, Ilenia Maini, Naomi L. Baker, Scott C. Bell, Maria Augusta N.P. Monteiro, Valdirene T. de Oliveira, Simonetta Rosato, Ana C.V. Krepischi Santos, Druckerei Stückle, Carl Ernst, Rosario Pascarella, Andréia M. Carvalho, Lucilene Arilho Ribeiro-Bicudo, Peter G. Farlie
المصدر: Molecular Syndromology. 7:I-VI
مصطلحات موضوعية: Genetics, Genetics (clinical)
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11
المؤلفون: Victor Martinez-Glez, Vera Lúcia Gil da Silva Lopes, Federico Tessadori, Sheela Nampoothiri, Connie S. Motter, Marie-José H. van den Boogaard, Patrick W. B. Derksen, Catherine Ward Melver, Madelon M. Maurice, Corstiaan C. Breugem, Hülya Kayserili, Max Krall, Leontine van Unen, Fernando Santos-Simarro, Annelies de Klein, Jeroen Bakkers, Pablo Lapunzina, Elaine Lustosa-Mendes, Anneke Kievit, Margo L. Whiteford, Anne Slavotinek, Hannie Douben, Michael L. Cunningham, Nancy Mizue Kokitsu-Nakata, Wilfred F. J. van IJcken, Koen L.I. van Gassen, Gijs van Haaften, Anne V. Hing, Annette F. Baas, Antonio Richieri-Costa, Maarten P.G. Massink, Raoul C.M. Hennekam, Karen Duran, Siulan Vendramini-Pittoli, Jeannette Hoogeboom, Marco Castori, Ingrid Jordens
المساهمون: Clinical Genetics, APH - Quality of Care, Paediatric Genetics, ARD - Amsterdam Reproduction and Development, Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
European Journal of Human Genetics, 26(2), 210-219. Nature Publishing Group
European journal of human genetics, 26(2), 210-219. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, Male, Delta Catenin, Ectropion, 030105 genetics & heredity, medicine.disease_cause, CDH1, Ectropion/genetics, Child, Genetics (clinical), Zebrafish, Mutation, CTNND1, Cleft Lip/genetics, Antigens, CD/genetics, Catenins, Cadherins, Cleft Palate, CD/genetics, Child, Preschool, MCF-7 Cells, Female, Catenin complex, Hereditary diffuse gastric cancer, Protein Binding, Adult, ANORMALIDADES CRANIOFACIAIS, Adolescent, Cleft Lip, Catenins/genetics, Biology, Article, 03 medical and health sciences, Antigens, CD, Cleft Palate/genetics, Tooth Abnormalities/genetics, Genetics, medicine, Cell Adhesion, Animals, Humans, Antigens, Preschool, Gene, Cadherin, Tooth Abnormalities, Cadherins/genetics, medicine.disease, Blepharocheilodontic syndrome, 030104 developmental biology, Cancer research, biology.protein
وصف الملف: application/pdf
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12
المؤلفون: Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Antonio Richieri-Costa, Daniela Gamba Garib, Siulan Vendramini-Pittoli, Priscila Padilha Moura, Pedro H. Hori, Marilia Yatabe, Roseli Maria Zechi-Ceide
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Maxillary hypoplasia, business.industry, Hearing loss, Genetic heterogeneity, Mandible, Anatomy, 030105 genetics & heredity, medicine.disease, Phenotype, 03 medical and health sciences, medicine.anatomical_structure, Genetics, medicine, DISOSTOSE MANDIBULOFACIAL, Zygomatic arch, Eyelid, Craniofacial, medicine.symptom, business, Genetics (clinical)
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13
المؤلفون: Antonio Richieri-Costa, Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide, Lucilene Arilho Ribeiro-Bicudo, Camila Wenceslau Alvarez, Nancy Mizue Kokitsu-Nakata
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Coloboma, Mutation, endocrine system, Nevoid basal-cell carcinoma syndrome, PTCH1 Gene, Consanguinity, Biology, medicine.disease, medicine.disease_cause, Microphthalmia, eye diseases, 03 medical and health sciences, stomatognathic diseases, 030104 developmental biology, Holoprosencephaly, PTCH1, Pediatrics, Perinatology and Child Health, medicine, sense organs, Genetics (clinical)
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14
المؤلفون: Nancy Mizue Kokitsu-Nakata, Maurício Mitsuru Yoshida, Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Juliana M. Santos, Silvio M. Garcia Júnior
المصدر: Clinical dysmorphology. 24(4)
مصطلحات موضوعية: Male, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, business.industry, Cleft Lip, Infant, General Medicine, Dermatology, Facial Bones, Pathology and Forensic Medicine, stomatognathic diseases, Goldenhar Syndrome, X ray computed, Pediatrics, Perinatology and Child Health, Medicine, Humans, Anatomy, Craniofacial, Presentation (obstetrics), business, Genetics (clinical)
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15
المؤلفون: Christopher T. Gordon, Pernille Lindholm, Maria Leine Guion-Almeida, Florence Petit, Frédéric Tores, Thierry Hieu, Peter M. Kroisel, Muriel Holder-Espinasse, Linda P. Jakobsen, Solenn Pruvost, Stanislas Lyonnet, Cécile Masson, Nancy Mizue Kokitsu-Nakata, Myriam Oufadem, Roseli Maria Zechi-Ceide, Philippe Pellerin, Patrick Nitschke, Christine Bole-Feysot, Siulan Vendramini-Pittoli, Arnold Munnich, Jeanne Amiel
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, Endothelin receptor type A, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, GNAI3, Report, Genetics, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Ear Diseases, Gene, Furin, Peptide sequence, Genetics (clinical), Genes, Dominant, Endothelin-1, Ear, Endothelin 1, Phenotype, Molecular biology, Pedigree, Amino Acid Substitution, ENDOTELINAS, Mutation, biology.protein, Female, Sequence Alignment, Signal Transduction
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16
المؤلفون: Maria Rita Passos-Bueno, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Siulan Vendramini-Pittoli, Vanessa Luiza Romanelli Tavares
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: medicine.medical_specialty, Genetic Linkage, Mandible, Prominent cheeks, Condyle, Genetic Heterogeneity, Familial case, stomatognathic system, Microstomia, Genetics, medicine, Humans, Child, Ear Diseases, Genetics (clinical), Temporomandibular Joint, Genetic heterogeneity, business.industry, Ear, medicine.disease, Dermatology, GENÉTICA MÉDICA, Pedigree, Temporomandibular joint, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Female, Abnormality, business, Brazil
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17
المؤلفون: Aline Petrin, Jason Paul Heard, Nancy Mizue Kokitsu-Nakata, Jeffrey C. Murray, Laura E Henkle, Antonio Richieri-Costa, Siulan Vendramini-Pittoli, Daniela Vera Cruz dos Santos
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, Biology, Article, Exon, Posteriorly-rotated ears, Retrognathia, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), Brachydactyly, Infant, medicine.disease, Hematologic Diseases, Neoplasm Proteins, Pedigree, DNA-Binding Proteins, Vestibular Diseases, HEREDITARIEDADE, Face, Mutation (genetic algorithm), Female, Kabuki syndrome, Brazil
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18
المؤلفون: Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide, Maria Rita Passos-Bueno, Maria Leine Guion-Almeida
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Male, Microcephaly, Pediatrics, medicine.medical_specialty, Mothers, Branchial arch, Nuclear Family, Familial case, Genes, X-Linked, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), X chromosome, Genes, Dominant, business.industry, Infant, Newborn, Infant, Ear, Mandibulofacial dysostosis, Syndrome, medicine.disease, Developmental disorder, Cleft Palate, Child, Preschool, Speech delay, Skin Abnormalities, Female, medicine.symptom, business, First branchial arch anomalies, Mandibulofacial Dysostosis
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19
المصدر: Clinical dysmorphology. 18(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Adolescent, business.industry, Infant, General Medicine, Dermatology, Pathology and Forensic Medicine, Goldenhar Syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, medicine, Humans, Abnormalities, Multiple, Family, Female, Anatomy, business, Child, Genetics (clinical), Genes, Dominant
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20Academic Journal
المؤلفون: Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Maria Rita Santos Passos-Bueno, Roseli Maria Zechi-Ceide
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1072.1255; http://genoma.ib.usp.br/sites/default/files/publicacoes/mandibulofacial.pdf