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Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101480 - 101480
Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the... 
AHI1 | MUTATIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
International Journal of Environmental Research and Public Health, ISSN 1661-7827, 07/2017, Volume 14, Issue 7, p. 670
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A27 - A27
Background and rationaleHuntington’s disease (HD) patients’ cell lines may theoretically offer the opportunity to study longitudinal changes due to the mutated... 
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38
Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the... 
Care and treatment | Gene mutations | Joubert syndrome | Stem cells | Research | Risk factors
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 03/2019, Volume 78, Issue 3, pp. 248 - 256
Abstract Higher-grade meningiomas (WHO grade II and III) represent a diagnostic and prognostic challenge. We assessed the pathological and molecular... 
SYSTEM | TERT PROMOTER MUTATIONS | Prognosis | SOFT-TISSUE SARCOMAS | CLASSIFICATION | PATHOLOGY | TUMORS | NEUROSCIENCES | Prognostic factors | CLINICAL NEUROLOGY | Score | PHASE-II TRIAL | BRAIN INVASION | TERT | SSTR2a | VARIABLES | Ki67 | RECURRENCE-FREE SURVIVAL | EXPRESSION | Meningioma | Original
Journal Article
by Ranzato Filardi, Fabiana L and De Barros, Fábio and Baumgratz, José Fernando A and Bicudo, Carlos E.M and Cavalcanti, Taciana B and Nadruz Coelho, Marcus A and Costa, Andrea F and Costa, Denise P and Goldenberg, Renato and Labiak, Paulo Henrique and Lanna, João M and Leitman, Paula and Lohmann, Lúcia G and Costa Maia, Leonor and Mansano, Vidal F and Morim, Marli P and Peralta, Denilson F and Pirani, José Rubens and Prado, Jefferson and Roque, Nádia and Secco, Ricardo S and Stehmann, João Renato and Sylvestre, Lana S and Viana, Pedro L and Walter, Bruno M.T and Zimbrão, Geraldo and Forzza, Rafaela Campostrini and Abreu, Maria C and Abreu, Vanessa H.R and Acevedo-Rodríguez, Pedro and Rafael, Acunã C and Afonso, Edgar A.L and Agra, Leandro A.N.N and Agra, Maria F and Almeda, Frank and Almeida, Gracineide S.S and Almeida, Mariana M and Almeida, Nicolli B.C and Almeida, Rafael F and Almeida, Thaís E and Alves, Flávio M and Alves, Maria and Alves-Araújo, Anderson and Amaral, Maria C.E and Amélio, Leandro A and Amorim, André M.A and Amorim, Bruno S and Amorim, Vivian O and Andrade, Ivanilza M and André, Thiago and Andreata, Regina H.P and Andrino, Caroline O and Angulo, María B and Antar, Guilherme M and Aona, Lidyanne Y.S and Arana, Marcelo and Aranha Filho, João L.M and Araújo, Andréa O and Araújo, Camila C and Araújo, Cintia A.T and Araújo, Mário H.T and Asprino, Renata C and Assis, Francine C and Assis, Leandro C.S and Assis, Marta C and Athayde Filho, Francisco and Athiê-Souza, Sarah M and Azevedo, Michaele A.M and Bacci, Lucas F and Barbosa, Ariane R and Barbosa, Camilo V.O and Barbosa, Juliana F and Barbosa, Maria R.V and Barbosa-Silva, Rafael G and Barboza, Gloria E and Barcelos, Flávia R.B and Barcelos, Laísa B and Barreto, Kamilla L and Bastos, Cid J.P and Bastos, Cláudia A and Benelli, Ada and Bernacci, Luís C and Beyer, Maila and Bezerra, Andrea C.C and Bigio, Narcísio C and Biral, Leonardo and Bissoli, Vinícius F and Bochorny, Thuane and Bohs, Lynn and Boldorini, Abril and Boldrini, Ilsi I and Bolson, Mônica and Bonadeu, Francismeire and Bordin, Juçara and Bordon, Natali G and Borges, Leonardo M and Borges, Rafael A.X and Borges, Rodrigo L and Bortoluzzi, Roseli L.C and Bove, Cláudia P and ...
Rodriguesia, ISSN 0370-6583, 10/2018, Volume 69, Issue 4, pp. 1513 - 1527
Abstract The Global Strategy for Plant Conservation (GSPC) was established by the Conference of Parties in 2002 to decrease the loss of plant diversity, reduce... 
Database | Taxonomy | Diversity | Hotspots | database | diversity | taxonomy | hotspots
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2013, Volume 288, Issue 32, pp. 22915 - 22929
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
Sociología del Trabajo, ISSN 0210-8364, 10/2015, Issue 85, p. 63
Journal Article
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