Синдром Прадера — Вилли (Russian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Синдром Прадера — Вилли" in Russian language version.

refsWebsite

Global rank Russian rank

18nih.gov

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11doi.org

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5web.archive.org

1^st place

4semanticscholar.org

11^th place

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2harvard.edu

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1obolibrary.org

2,299^th place

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1nature.com

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1medicalxpress.com

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1omim.org

4,380^th place

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1worldcat.org

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doi.org

Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15". Nature Genetics. 9 (4): 395—400. doi:10.1038/ng0495-395. PMID 7795645. S2CID 7184110.
de los Santos T, Schweizer J, Rees CA, Francke U (November 2000). "Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain". American Journal of Human Genetics. 67 (5): 1067—82. doi:10.1086/303106. PMC 1288549. PMID 11007541.
Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000). "Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14311—6. Bibcode:2000PNAS...9714311C. doi:10.1073/pnas.250426397. PMC 18915. PMID 11106375.
Cassidy, SB; Dykens, E (2000). "Prader-Willi and Angelman syndromes: sister imprinted disorders". Am J Med Genet. 97 (2): 136—146. doi:10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v. PMID 11180221. S2CID 20832857.
Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome". Hum Genet. 116 (3): 228—30. doi:10.1007/s00439-004-1219-2. PMID 15565282. S2CID 23190709.
Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J (2007). "Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation". PLOS Genet. 3 (12): e235. doi:10.1371/journal.pgen.0030235. PMC 2323313. PMID 18166085.
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008). "Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster". Nat Genet. 40 (6): 719—21. doi:10.1038/ng.158. PMC 2705197. PMID 18500341.
Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (March 2008). "SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice". PLOS ONE. 3 (3): e1709. Bibcode:2008PLoSO...3.1709D. doi:10.1371/journal.pone.0001709. PMC 2248623. PMID 18320030.
Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U (2005). "Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models". Mamm Genome. 16 (6): 424—31. doi:10.1007/s00335-005-2460-2. PMID 16075369. S2CID 12256515.
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI (June 2009). "A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism". Hum. Mol. Genet. 18 (17): 3257—65. doi:10.1093/hmg/ddp263. PMC 2722987. PMID 19498035.

dx.doi.org

Buiting K. et al. Clinical utility gene card for: Prader-Willi Syndrome (англ.) // European Journal of Human Genetics. — 2014. — P. e1–e3. — doi:10.1038/ejhg.2014.66. Архивировано 22 мая 2014 года.

harvard.edu

ui.adsabs.harvard.edu

Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000). "Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14311—6. Bibcode:2000PNAS...9714311C. doi:10.1073/pnas.250426397. PMC 18915. PMID 11106375.
Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (March 2008). "SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice". PLOS ONE. 3 (3): e1709. Bibcode:2008PLoSO...3.1709D. doi:10.1371/journal.pone.0001709. PMC 2248623. PMID 18320030.

medicalxpress.com

Major breakthrough in understanding Prader-Willi syndrome, a parental imprinting disorder (неопр.). Medicalxpress.com. Дата обращения: 18 июня 2015. Архивировано 28 апреля 2015 года.

nature.com

Buiting K. et al. Clinical utility gene card for: Prader-Willi Syndrome (англ.) // European Journal of Human Genetics. — 2014. — P. e1–e3. — doi:10.1038/ejhg.2014.66. Архивировано 22 мая 2014 года.

nih.gov

pubmed.ncbi.nlm.nih.gov

Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15". Nature Genetics. 9 (4): 395—400. doi:10.1038/ng0495-395. PMID 7795645. S2CID 7184110.
de los Santos T, Schweizer J, Rees CA, Francke U (November 2000). "Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain". American Journal of Human Genetics. 67 (5): 1067—82. doi:10.1086/303106. PMC 1288549. PMID 11007541.
Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000). "Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14311—6. Bibcode:2000PNAS...9714311C. doi:10.1073/pnas.250426397. PMC 18915. PMID 11106375.
Cassidy, SB; Dykens, E (2000). "Prader-Willi and Angelman syndromes: sister imprinted disorders". Am J Med Genet. 97 (2): 136—146. doi:10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v. PMID 11180221. S2CID 20832857.
Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome". Hum Genet. 116 (3): 228—30. doi:10.1007/s00439-004-1219-2. PMID 15565282. S2CID 23190709.
Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J (2007). "Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation". PLOS Genet. 3 (12): e235. doi:10.1371/journal.pgen.0030235. PMC 2323313. PMID 18166085.
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008). "Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster". Nat Genet. 40 (6): 719—21. doi:10.1038/ng.158. PMC 2705197. PMID 18500341.
Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (March 2008). "SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice". PLOS ONE. 3 (3): e1709. Bibcode:2008PLoSO...3.1709D. doi:10.1371/journal.pone.0001709. PMC 2248623. PMID 18320030.
Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U (2005). "Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models". Mamm Genome. 16 (6): 424—31. doi:10.1007/s00335-005-2460-2. PMID 16075369. S2CID 12256515.
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI (June 2009). "A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism". Hum. Mol. Genet. 18 (17): 3257—65. doi:10.1093/hmg/ddp263. PMC 2722987. PMID 19498035.

ncbi.nlm.nih.gov

de los Santos T, Schweizer J, Rees CA, Francke U (November 2000). "Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain". American Journal of Human Genetics. 67 (5): 1067—82. doi:10.1086/303106. PMC 1288549. PMID 11007541.
Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000). "Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14311—6. Bibcode:2000PNAS...9714311C. doi:10.1073/pnas.250426397. PMC 18915. PMID 11106375.
"Prader-Willi Syndrome - MeSH - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. November 1, 2016. <Prader-Willi Syndrome - MeSH - NCBI (неопр.). Дата обращения: 1 ноября 2016. Архивировано 3 ноября 2016 года.>.
Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J (2007). "Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation". PLOS Genet. 3 (12): e235. doi:10.1371/journal.pgen.0030235. PMC 2323313. PMID 18166085.
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008). "Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster". Nat Genet. 40 (6): 719—21. doi:10.1038/ng.158. PMC 2705197. PMID 18500341.
Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (March 2008). "SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice". PLOS ONE. 3 (3): e1709. Bibcode:2008PLoSO...3.1709D. doi:10.1371/journal.pone.0001709. PMC 2248623. PMID 18320030.
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI (June 2009). "A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism". Hum. Mol. Genet. 18 (17): 3257—65. doi:10.1093/hmg/ddp263. PMC 2722987. PMID 19498035.
L. M. Curfs, J. P. Fryns. Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile // Birth Defects Original Article Series. — 1992. — Т. 28, вып. 1. — С. 99–104. — ISSN 0547-6844. Архивировано 22 ноября 2018 года.

obolibrary.org

purl.obolibrary.org

Disease Ontology (англ.) — 2016.

omim.org

OMIM 17627

semanticscholar.org

api.semanticscholar.org

Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15". Nature Genetics. 9 (4): 395—400. doi:10.1038/ng0495-395. PMID 7795645. S2CID 7184110.
Cassidy, SB; Dykens, E (2000). "Prader-Willi and Angelman syndromes: sister imprinted disorders". Am J Med Genet. 97 (2): 136—146. doi:10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v. PMID 11180221. S2CID 20832857.
Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome". Hum Genet. 116 (3): 228—30. doi:10.1007/s00439-004-1219-2. PMID 15565282. S2CID 23190709.
Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U (2005). "Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models". Mamm Genome. 16 (6): 424—31. doi:10.1007/s00335-005-2460-2. PMID 16075369. S2CID 12256515.

web.archive.org

How many people are affected/at risk for Prader-Willi syndrome (PWS)? (неопр.) web.archive.org (27 августа 2016). Дата обращения: 17 сентября 2019. Архивировано 27 августа 2016 года.
Buiting K. et al. Clinical utility gene card for: Prader-Willi Syndrome (англ.) // European Journal of Human Genetics. — 2014. — P. e1–e3. — doi:10.1038/ejhg.2014.66. Архивировано 22 мая 2014 года.
Major breakthrough in understanding Prader-Willi syndrome, a parental imprinting disorder (неопр.). Medicalxpress.com. Дата обращения: 18 июня 2015. Архивировано 28 апреля 2015 года.
"Prader-Willi Syndrome - MeSH - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. November 1, 2016. <Prader-Willi Syndrome - MeSH - NCBI (неопр.). Дата обращения: 1 ноября 2016. Архивировано 3 ноября 2016 года.>.
L. M. Curfs, J. P. Fryns. Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile // Birth Defects Original Article Series. — 1992. — Т. 28, вып. 1. — С. 99–104. — ISSN 0547-6844. Архивировано 22 ноября 2018 года.

worldcat.org

L. M. Curfs, J. P. Fryns. Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile // Birth Defects Original Article Series. — 1992. — Т. 28, вып. 1. — С. 99–104. — ISSN 0547-6844. Архивировано 22 ноября 2018 года.