Hoyeraal–Hreidarsson syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hoyeraal–Hreidarsson syndrome" in English language version.

refsWebsite

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10nih.gov

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6doi.org

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2semanticscholar.org

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1orpha.net

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1harvard.edu

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doi.org

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (August 2015). "Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder". British Journal of Haematology. 170 (4): 457–71. doi:10.1111/bjh.13442. PMC 4526362. PMID 25940403.
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, et al. (November 1999). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal–Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1". British Journal of Haematology. 107 (2): 335–9. doi:10.1046/j.1365-2141.1999.01690.x. PMID 10583221. S2CID 23750791.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, et al. (September 2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome". Proceedings of the National Academy of Sciences of the United States of America. 110 (36): E3408-16. Bibcode:2013PNAS..110E3408D. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, et al. (August 2013). "Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability". Human Molecular Genetics. 22 (16): 3239–49. doi:10.1093/hmg/ddt178. PMID 23591994.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P (May 2016). "Mutations of the RTEL1 Helicase in a Hoyeraal–Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain". Human Mutation. 37 (5): 469–72. doi:10.1002/humu.22966. PMID 26847928. S2CID 21314739.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P (July 2019). "Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models". EMBO Molecular Medicine. 11 (7): e10201. doi:10.15252/emmm.201810201. PMC 6609912. PMID 31273937.

harvard.edu

ui.adsabs.harvard.edu

Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, et al. (September 2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome". Proceedings of the National Academy of Sciences of the United States of America. 110 (36): E3408-16. Bibcode:2013PNAS..110E3408D. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.

nih.gov

pubmed.ncbi.nlm.nih.gov

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (August 2015). "Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder". British Journal of Haematology. 170 (4): 457–71. doi:10.1111/bjh.13442. PMC 4526362. PMID 25940403.
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, et al. (November 1999). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal–Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1". British Journal of Haematology. 107 (2): 335–9. doi:10.1046/j.1365-2141.1999.01690.x. PMID 10583221. S2CID 23750791.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, et al. (September 2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome". Proceedings of the National Academy of Sciences of the United States of America. 110 (36): E3408-16. Bibcode:2013PNAS..110E3408D. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, et al. (August 2013). "Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability". Human Molecular Genetics. 22 (16): 3239–49. doi:10.1093/hmg/ddt178. PMID 23591994.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P (May 2016). "Mutations of the RTEL1 Helicase in a Hoyeraal–Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain". Human Mutation. 37 (5): 469–72. doi:10.1002/humu.22966. PMID 26847928. S2CID 21314739.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P (July 2019). "Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models". EMBO Molecular Medicine. 11 (7): e10201. doi:10.15252/emmm.201810201. PMC 6609912. PMID 31273937.

ncbi.nlm.nih.gov

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (August 2015). "Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder". British Journal of Haematology. 170 (4): 457–71. doi:10.1111/bjh.13442. PMC 4526362. PMID 25940403.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, et al. (September 2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome". Proceedings of the National Academy of Sciences of the United States of America. 110 (36): E3408-16. Bibcode:2013PNAS..110E3408D. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P (July 2019). "Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models". EMBO Molecular Medicine. 11 (7): e10201. doi:10.15252/emmm.201810201. PMC 6609912. PMID 31273937.

rarediseases.info.nih.gov

"Hoyeraal Hreidarsson syndrome". Genetic and Rare Diseases Information Center. National Institutes of Health. 1 August 2019. Retrieved 2021-11-01.

orpha.net

"Orphanet: Hoyeraal Hreidarsson syndrome". www.orpha.net. Retrieved 15 June 2019.

semanticscholar.org

api.semanticscholar.org

Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, et al. (November 1999). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal–Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1". British Journal of Haematology. 107 (2): 335–9. doi:10.1046/j.1365-2141.1999.01690.x. PMID 10583221. S2CID 23750791.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P (May 2016). "Mutations of the RTEL1 Helicase in a Hoyeraal–Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain". Human Mutation. 37 (5): 469–72. doi:10.1002/humu.22966. PMID 26847928. S2CID 21314739.