Triple-A syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Triple-A syndrome" in English language version.

refsWebsite

Global rank English rank

23nih.gov

4^th place

16doi.org

2^nd place

9semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

4,305^th place

1qucosa.de

low place

1harvard.edu

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1handle.net

102^nd place

76^th place

1orpha.net

3,537^th place

7,177^th place

doi.org

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M (2006). "A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome". Hormone Research. 65 (4): 171–176. doi:10.1159/000092003. PMID 16543750. S2CID 36128858.
Gazarian M, Cowell CT, Bonney M, Grigor WG (January 1995). "The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities". European Journal of Pediatrics. 154 (1): 18–23. doi:10.1007/BF01972967. PMID 7895750. S2CID 8904441.
Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K (January 2018). ""Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports". BMC Pediatrics. 18 (1): 6. doi:10.1186/s12887-017-0973-y. PMC 5769402. PMID 29334914.
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M (May 2003). "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics. 63 (5): 415–417. doi:10.1034/j.1399-0004.2003.00070.x. PMID 12752575. S2CID 19250948.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K (November 2004). "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocrine Research. 30 (4): 891–899. doi:10.1081/ERC-200044138. PMID 15666842. S2CID 31047487.
Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, et al. (2008). "Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management". Hormone Research. 70 (6): 364–372. doi:10.1159/000161867. PMID 18953174. S2CID 8097415.
Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K (November 2000). "Triple A syndrome--clinical aspects and molecular genetics". Endocrine Research. 26 (4): 751–759. doi:10.3109/07435800009048596. PMID 11196451. S2CID 42579320.
Krumbholz M, Koehler K, Huebner A (April 2006). "Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation". Biochemistry and Cell Biology. 84 (2): 243–249. doi:10.1139/o05-198. PMID 16609705.
Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (February 2006). "ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome". Proceedings of the National Academy of Sciences of the United States of America. 103 (7): 2298–2303. Bibcode:2006PNAS..103.2298H. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.
Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER (September 2017). "ALADIN is required for the production of fertile mouse oocytes". Molecular Biology of the Cell. 28 (19): 2470–2478. doi:10.1091/mbc.E16-03-0158. PMC 5597320. PMID 28768824.
Wallace IR, Hunter SJ (August 2012). "AAA syndrome--adrenal insufficiency, alacrima and achalasia". QJM. 105 (8): 803–804. doi:10.1093/qjmed/hcr145. PMID 21865313.
Gaiani F, Gismondi P, Minelli R, Casadio G, de'Angelis N, Fornaroli F, et al. (May 2020). "Case report of a familial triple: a syndrome and review of the literature". Medicine. 99 (22): e20474. doi:10.1097/MD.0000000000020474. hdl:11392/2533523. PMID 32481456.
Yadav P, Kumar D, Bohra GK, Garg MK (May 2020). "Triple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome". Journal of Family Medicine and Primary Care. 9 (5): 2531–2534. doi:10.4103/jfmpc.jfmpc_237_20. PMC 7380807. PMID 32754538.
Adams J, Schaaf CP (July 2018). "Diagnosis and genetics of alacrima". Clinical Genetics. 94 (1): 54–60. doi:10.1111/cge.13173. PMID 29120068. S2CID 32409479.

handle.net

hdl.handle.net

Gaiani F, Gismondi P, Minelli R, Casadio G, de'Angelis N, Fornaroli F, et al. (May 2020). "Case report of a familial triple: a syndrome and review of the literature". Medicine. 99 (22): e20474. doi:10.1097/MD.0000000000020474. hdl:11392/2533523. PMID 32481456.

harvard.edu

ui.adsabs.harvard.edu

Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (February 2006). "ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome". Proceedings of the National Academy of Sciences of the United States of America. 103 (7): 2298–2303. Bibcode:2006PNAS..103.2298H. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.

nih.gov

pubmed.ncbi.nlm.nih.gov

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M (2006). "A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome". Hormone Research. 65 (4): 171–176. doi:10.1159/000092003. PMID 16543750. S2CID 36128858.
Gazarian M, Cowell CT, Bonney M, Grigor WG (January 1995). "The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities". European Journal of Pediatrics. 154 (1): 18–23. doi:10.1007/BF01972967. PMID 7895750. S2CID 8904441.
Bharadia L, Kalla M, Sharma SK, Charan R, Gupta JB, Khan F (2005). "Triple A syndrome". Indian Journal of Gastroenterology. 24 (5): 217–218. PMID 16361769.
Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K (January 2018). ""Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports". BMC Pediatrics. 18 (1): 6. doi:10.1186/s12887-017-0973-y. PMC 5769402. PMID 29334914.
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M (May 2003). "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics. 63 (5): 415–417. doi:10.1034/j.1399-0004.2003.00070.x. PMID 12752575. S2CID 19250948.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K (November 2004). "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocrine Research. 30 (4): 891–899. doi:10.1081/ERC-200044138. PMID 15666842. S2CID 31047487.
Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, et al. (2008). "Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management". Hormone Research. 70 (6): 364–372. doi:10.1159/000161867. PMID 18953174. S2CID 8097415.
Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K (November 2000). "Triple A syndrome--clinical aspects and molecular genetics". Endocrine Research. 26 (4): 751–759. doi:10.3109/07435800009048596. PMID 11196451. S2CID 42579320.
Krumbholz M, Koehler K, Huebner A (April 2006). "Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation". Biochemistry and Cell Biology. 84 (2): 243–249. doi:10.1139/o05-198. PMID 16609705.
Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (February 2006). "ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome". Proceedings of the National Academy of Sciences of the United States of America. 103 (7): 2298–2303. Bibcode:2006PNAS..103.2298H. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.
Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER (September 2017). "ALADIN is required for the production of fertile mouse oocytes". Molecular Biology of the Cell. 28 (19): 2470–2478. doi:10.1091/mbc.E16-03-0158. PMC 5597320. PMID 28768824.
Wallace IR, Hunter SJ (August 2012). "AAA syndrome--adrenal insufficiency, alacrima and achalasia". QJM. 105 (8): 803–804. doi:10.1093/qjmed/hcr145. PMID 21865313.
Gaiani F, Gismondi P, Minelli R, Casadio G, de'Angelis N, Fornaroli F, et al. (May 2020). "Case report of a familial triple: a syndrome and review of the literature". Medicine. 99 (22): e20474. doi:10.1097/MD.0000000000020474. hdl:11392/2533523. PMID 32481456.
Yadav P, Kumar D, Bohra GK, Garg MK (May 2020). "Triple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome". Journal of Family Medicine and Primary Care. 9 (5): 2531–2534. doi:10.4103/jfmpc.jfmpc_237_20. PMC 7380807. PMID 32754538.
Adams J, Schaaf CP (July 2018). "Diagnosis and genetics of alacrima". Clinical Genetics. 94 (1): 54–60. doi:10.1111/cge.13173. PMID 29120068. S2CID 32409479.

ncbi.nlm.nih.gov

Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K (January 2018). ""Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports". BMC Pediatrics. 18 (1): 6. doi:10.1186/s12887-017-0973-y. PMC 5769402. PMID 29334914.
Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (February 2006). "ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome". Proceedings of the National Academy of Sciences of the United States of America. 103 (7): 2298–2303. Bibcode:2006PNAS..103.2298H. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.
Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER (September 2017). "ALADIN is required for the production of fertile mouse oocytes". Molecular Biology of the Cell. 28 (19): 2470–2478. doi:10.1091/mbc.E16-03-0158. PMC 5597320. PMID 28768824.
Yadav P, Kumar D, Bohra GK, Garg MK (May 2020). "Triple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome". Journal of Family Medicine and Primary Care. 9 (5): 2531–2534. doi:10.4103/jfmpc.jfmpc_237_20. PMC 7380807. PMID 32754538.

rarediseases.info.nih.gov

"Triple A syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-04-20.

ghr.nlm.nih.gov

"Triple A Syndrome". Genetics Home Reference. February 2010. Retrieved 10 May 2020.

omim.org

Online Mendelian Inheritance in Man (OMIM): 231550

orpha.net

Nicolino M (April 2013). "Triple A syndrome". Orphanet. Retrieved 31 August 2020.

qucosa.de

tud.qucosa.de

Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, et al. (2008). "Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management". Hormone Research. 70 (6): 364–372. doi:10.1159/000161867. PMID 18953174. S2CID 8097415.

semanticscholar.org

api.semanticscholar.org

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M (2006). "A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome". Hormone Research. 65 (4): 171–176. doi:10.1159/000092003. PMID 16543750. S2CID 36128858.
Gazarian M, Cowell CT, Bonney M, Grigor WG (January 1995). "The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities". European Journal of Pediatrics. 154 (1): 18–23. doi:10.1007/BF01972967. PMID 7895750. S2CID 8904441.
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M (May 2003). "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics. 63 (5): 415–417. doi:10.1034/j.1399-0004.2003.00070.x. PMID 12752575. S2CID 19250948.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K (November 2004). "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocrine Research. 30 (4): 891–899. doi:10.1081/ERC-200044138. PMID 15666842. S2CID 31047487.
Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, et al. (2008). "Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management". Hormone Research. 70 (6): 364–372. doi:10.1159/000161867. PMID 18953174. S2CID 8097415.
Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K (November 2000). "Triple A syndrome--clinical aspects and molecular genetics". Endocrine Research. 26 (4): 751–759. doi:10.3109/07435800009048596. PMID 11196451. S2CID 42579320.
Adams J, Schaaf CP (July 2018). "Diagnosis and genetics of alacrima". Clinical Genetics. 94 (1): 54–60. doi:10.1111/cge.13173. PMID 29120068. S2CID 32409479.