Okamoto syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Okamoto syndrome" in English language version.

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11nih.gov

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5doi.org

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5worldcat.org

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2orpha.net

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1semanticscholar.org

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doi.org

Okamoto, Nobuhiko (May 2019). "Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation". American Journal of Medical Genetics. Part A. 179 (5): 822–826. doi:10.1002/ajmg.a.61079. ISSN 1552-4833. PMID 30793470. S2CID 73496854.
Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C. (September 2018). "Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature". European Journal of Human Genetics. 26 (9): 1272–1281. doi:10.1038/s41431-018-0187-2. ISSN 1476-5438. PMC 6117294. PMID 29904177.
Au, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi (1997). "New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face". American Journal of Medical Genetics. 68 (3): 347–349. doi:10.1002/(SICI)1096-8628(19970131)68:3<347::AID-AJMG18>3.0.CO;2-T. ISSN 1096-8628. PMID 9024570.
Gallardo, Miguel; Lee, Hun Ju; Zhang, Xiaorui; Bueso-Ramos, Carlos; Pageon, Laura R.; McArthur, Mark; Multani, Asha; Nazha, Aziz; Manshouri, Taghi; Parker-Thornburg, Jan; Rapado, Inmaculada (12 October 2015). "hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies". Cancer Cell. 28 (4): 486–499. doi:10.1016/j.ccell.2015.09.001. ISSN 1878-3686. PMC 4652598. PMID 26412324.

nih.gov

pubmed.ncbi.nlm.nih.gov

Okamoto, Nobuhiko (May 2019). "Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation". American Journal of Medical Genetics. Part A. 179 (5): 822–826. doi:10.1002/ajmg.a.61079. ISSN 1552-4833. PMID 30793470. S2CID 73496854.
Au, Ping-Yee Billie; Innes, A. Micheil; Kline, Antonie D. (2019), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Au-Kline Syndrome", GeneReviews®, University of Washington, Seattle, PMID 30998304, retrieved 2 December 2019
Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C. (September 2018). "Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature". European Journal of Human Genetics. 26 (9): 1272–1281. doi:10.1038/s41431-018-0187-2. ISSN 1476-5438. PMC 6117294. PMID 29904177.
Au, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi (1997). "New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face". American Journal of Medical Genetics. 68 (3): 347–349. doi:10.1002/(SICI)1096-8628(19970131)68:3<347::AID-AJMG18>3.0.CO;2-T. ISSN 1096-8628. PMID 9024570.
Gallardo, Miguel; Lee, Hun Ju; Zhang, Xiaorui; Bueso-Ramos, Carlos; Pageon, Laura R.; McArthur, Mark; Multani, Asha; Nazha, Aziz; Manshouri, Taghi; Parker-Thornburg, Jan; Rapado, Inmaculada (12 October 2015). "hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies". Cancer Cell. 28 (4): 486–499. doi:10.1016/j.ccell.2015.09.001. ISSN 1878-3686. PMC 4652598. PMID 26412324.

ncbi.nlm.nih.gov

Au, Ping-Yee Billie; Innes, A. Micheil; Kline, Antonie D. (2019), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Au-Kline Syndrome", GeneReviews®, University of Washington, Seattle, PMID 30998304, retrieved 2 December 2019
Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C. (September 2018). "Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature". European Journal of Human Genetics. 26 (9): 1272–1281. doi:10.1038/s41431-018-0187-2. ISSN 1476-5438. PMC 6117294. PMID 29904177.
Au, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
Gallardo, Miguel; Lee, Hun Ju; Zhang, Xiaorui; Bueso-Ramos, Carlos; Pageon, Laura R.; McArthur, Mark; Multani, Asha; Nazha, Aziz; Manshouri, Taghi; Parker-Thornburg, Jan; Rapado, Inmaculada (12 October 2015). "hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies". Cancer Cell. 28 (4): 486–499. doi:10.1016/j.ccell.2015.09.001. ISSN 1878-3686. PMC 4652598. PMID 26412324.

rarediseases.info.nih.gov

"Okamoto syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2 December 2019.

orpha.net

"Orphanet: Neurodevelopmental disorder craniofacial dysmorphism cardiac defect skeletal anomalies syndrome". www.orpha.net. Retrieved 9 December 2019.
"Orphanet: Okamoto syndrome". www.orpha.net. Retrieved 30 November 2019.

semanticscholar.org

api.semanticscholar.org

Okamoto, Nobuhiko (May 2019). "Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation". American Journal of Medical Genetics. Part A. 179 (5): 822–826. doi:10.1002/ajmg.a.61079. ISSN 1552-4833. PMID 30793470. S2CID 73496854.

worldcat.org

search.worldcat.org

Okamoto, Nobuhiko (May 2019). "Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation". American Journal of Medical Genetics. Part A. 179 (5): 822–826. doi:10.1002/ajmg.a.61079. ISSN 1552-4833. PMID 30793470. S2CID 73496854.
Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C. (September 2018). "Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature". European Journal of Human Genetics. 26 (9): 1272–1281. doi:10.1038/s41431-018-0187-2. ISSN 1476-5438. PMC 6117294. PMID 29904177.
Au, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi (1997). "New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face". American Journal of Medical Genetics. 68 (3): 347–349. doi:10.1002/(SICI)1096-8628(19970131)68:3<347::AID-AJMG18>3.0.CO;2-T. ISSN 1096-8628. PMID 9024570.
Gallardo, Miguel; Lee, Hun Ju; Zhang, Xiaorui; Bueso-Ramos, Carlos; Pageon, Laura R.; McArthur, Mark; Multani, Asha; Nazha, Aziz; Manshouri, Taghi; Parker-Thornburg, Jan; Rapado, Inmaculada (12 October 2015). "hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies". Cancer Cell. 28 (4): 486–499. doi:10.1016/j.ccell.2015.09.001. ISSN 1878-3686. PMC 4652598. PMID 26412324.