AHI1 (Portuguese Wikipedia)
Analysis of information sources in references of the Wikipedia article "AHI1" in Portuguese language version.
refsWebsite
Global rank
Portuguese rank
5th place
5th place
43rd place
440th place
doi.org
dx.doi.org
- Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (1 de dezembro de 2004). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». American Journal of Human Genetics. 75 (6): 979–987. ISSN 0002-9297. PMC 1182159
. PMID 15467982. doi:10.1086/425985 - Saraiva, JM; Baraitser, M (1992). «Joubert syndrome: a review». American Journal of Medical Genetics. 43 (4): 726–731. PMID 1341417. doi:10.1002/ajmg.1320430415
- Joubert M, Eisenring JJ, Robb JP, Andermann F (setembro de 1969). «Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation». Neurology. 19 (9): 813–25. PMID 5816874. doi:10.1212/wnl.19.9.813
- Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 de junho de 2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». European Journal of Human Genetics (em inglês). 14 (10): 1111–1119. ISSN 1018-4813. PMID 16773125. doi:10.1038/sj.ejhg.5201675
- Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (abril de 2004). «Homozygosity mapping of a third Joubert syndrome locus to 6q23». J Med Genet. 41 (4): 273–7. PMC 1735723. PMID 15060101. doi:10.1136/jmg.2003.014787
- Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (março de 2006). «Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome». Pediatr Nephrol. 21 (1): 32–5. PMID 16240161. doi:10.1007/s00467-005-2054-y
nih.gov
ncbi.nlm.nih.gov
- «Human PubMed Reference:»
- Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (1 de dezembro de 2004). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». American Journal of Human Genetics. 75 (6): 979–987. ISSN 0002-9297. PMC 1182159. PMID 15467982. doi:10.1086/425985
- Saraiva, JM; Baraitser, M (1992). «Joubert syndrome: a review». American Journal of Medical Genetics. 43 (4): 726–731. PMID 1341417. doi:10.1002/ajmg.1320430415
- Joubert M, Eisenring JJ, Robb JP, Andermann F (setembro de 1969). «Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation». Neurology. 19 (9): 813–25. PMID 5816874. doi:10.1212/wnl.19.9.813
- Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 de junho de 2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». European Journal of Human Genetics (em inglês). 14 (10): 1111–1119. ISSN 1018-4813. PMID 16773125. doi:10.1038/sj.ejhg.5201675
- Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (abril de 2004). «Homozygosity mapping of a third Joubert syndrome locus to 6q23». J Med Genet. 41 (4): 273–7. PMC 1735723. PMID 15060101. doi:10.1136/jmg.2003.014787
- Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (março de 2006). «Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome». Pediatr Nephrol. 21 (1): 32–5. PMID 16240161. doi:10.1007/s00467-005-2054-y
- «Entrez Gene: AHI1 Abelson helper integration site 1»
worldcat.org
- Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (1 de dezembro de 2004). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». American Journal of Human Genetics. 75 (6): 979–987. ISSN 0002-9297. PMC 1182159. PMID 15467982. doi:10.1086/425985
- Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 de junho de 2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». European Journal of Human Genetics (em inglês). 14 (10): 1111–1119. ISSN 1018-4813. PMID 16773125. doi:10.1038/sj.ejhg.5201675