Pycnodysostosis (English Wikipedia)

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

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17nih.gov

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12doi.org

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4semanticscholar.org

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2rarediseases.org

5,181^st place

3,260^th place

1winternet.com

6,503^rd place

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1harvard.edu

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1books.google.com

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books.google.com

McKusick, Victor A. (1998). Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. JHU Press. p. 2628. ISBN 978-0-8018-5742-3.

doi.org

Gelb, Bruce D.; Shi, Guo-Ping; Chapman, Harold A.; Desnick, Robert J. (30 August 1996). "Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency". Science. 273 (5279): 1236–1238. Bibcode:1996Sci...273.1236G. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.
Mujawar, Quais; Naganoor, Ravi; Patil, Harsha; Thobbi, Achyut Narayan; Ukkali, Sadashiva; Malagi, Naushad (December 2009). "Pycnodysostosis with unusual findings: a case report". Cases Journal. 2 (1): 6544. doi:10.4076/1757-1626-2-6544. PMC 2740175. PMID 19829823.
Sedano, Heddie D. (July 1968). "Pycnodysostosis: Clinical and Genetic Considerations". American Journal of Diseases of Children. 116 (1): 70. doi:10.1001/archpedi.1968.02100020072010. PMID 5657357.
Rodrigues, C; Gomes, Fa; Arruda, Ja; Silva, L; Alvares, P; da Fonte, P; Sobral, Ap; Silveira, M (2017). "Clinical and radiographic features of pycnodysostosis: A case report". Journal of Clinical and Experimental Dentistry: e1276–e1281. doi:10.4317/jced.54105. PMC 5694160. PMID 29167721.
Polymeropoulos, Mihael H.; Ortiz De Luna, Rosa Isela; Ide, Susan E.; Torres, Rosarelis; Rubenstein, Jeffrey; Francomano, Clair A. (June 1995). "The gene for pycnodysostosis maps to human chromosome 1cen–q21". Nature Genetics. 10 (2): 238–239. doi:10.1038/ng0695-238. PMID 7663522. S2CID 11723845.
Motyckova, G; Fisher, DE (2002). "Pycnodysostosis: role and regulation of cathepsin K deficiency in osteoclast function and human disease". Current Molecular Medicine. 2 (5): 407–421. doi:10.2174/1566524023362401. PMID 12125807.
Razmara, E; Azimi, H; Bitaraf, A; Daneshmand, MA; Galehdari, M; Dokhanchi, M; Esmaeilzadeh, E; Garshasbi, M (2020). "Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis". Molecular Genetics & Genomics Medicine. 3 (8): 1118. doi:10.1002/mgg3.1118. PMC 7057126. PMID 31944631.
Khirani, Sonia; Amaddeo, Alessandro; Baujat, Geneviève; Michot, Caroline; Couloigner, Vincent; Pinto, Graziella; Arnaud, Eric; Picard, Arnaud; Cormier-Daire, Valérie; Fauroux, Brigitte (January 2020). "Sleep-disordered breathing in children with pycnodysostosis". American Journal of Medical Genetics Part A. 182 (1): 122–129. doi:10.1002/ajmg.a.61393. PMID 31680459. S2CID 207889726.
Sayed Amr, Khalda; El-Bassyouni, Hala T.; Abdel Hady, Sawsan; Mostafa, Mostafa I.; Mehrez, Mennat I.; Coviello, Domenico; El-Kamah, Ghada Y. (29 September 2021). "Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease". Genes. 12 (10): 1552. doi:10.3390/genes12101552. PMC 8535549. PMID 34680947.
Doherty, Mia Aa; Langdahl, Bente L.; Vogel, Ida; Haagerup, Annette (February 2021). "Clinical and genetic evaluation of Danish patients with pycnodysostosis". European Journal of Medical Genetics. 64 (2): 104135. doi:10.1016/j.ejmg.2021.104135. PMID 33429075. S2CID 231587224.
Sait, Haseena; Srivastava, Priyanka; Gupta, Neerja; Kabra, Madhulika; Kapoor, Seema; Ranganath, Prajnya; Rungsung, Ikrormi; Mandal, Kausik; Saxena, Deepti; Dalal, Ashwin; Roy, Ajitesh; Pabbati, Jayalakshmi; Phadke, Shubha R. (July 2021). "Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis". European Journal of Medical Genetics. 64 (7): 104235. doi:10.1016/j.ejmg.2021.104235. PMID 33945887.
Shapiro, Frederic (2001). "Skeletal Dysplasias". Pediatric Orthopedic Deformities. pp. 733–871. doi:10.1016/B978-012638651-6/50010-1. ISBN 978-0-12-638651-6.

harvard.edu

ui.adsabs.harvard.edu

Gelb, Bruce D.; Shi, Guo-Ping; Chapman, Harold A.; Desnick, Robert J. (30 August 1996). "Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency". Science. 273 (5279): 1236–1238. Bibcode:1996Sci...273.1236G. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.

nih.gov

pubmed.ncbi.nlm.nih.gov

Gelb, Bruce D.; Shi, Guo-Ping; Chapman, Harold A.; Desnick, Robert J. (30 August 1996). "Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency". Science. 273 (5279): 1236–1238. Bibcode:1996Sci...273.1236G. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.
Mujawar, Quais; Naganoor, Ravi; Patil, Harsha; Thobbi, Achyut Narayan; Ukkali, Sadashiva; Malagi, Naushad (December 2009). "Pycnodysostosis with unusual findings: a case report". Cases Journal. 2 (1): 6544. doi:10.4076/1757-1626-2-6544. PMC 2740175. PMID 19829823.
Sedano, Heddie D. (July 1968). "Pycnodysostosis: Clinical and Genetic Considerations". American Journal of Diseases of Children. 116 (1): 70. doi:10.1001/archpedi.1968.02100020072010. PMID 5657357.
Rodrigues, C; Gomes, Fa; Arruda, Ja; Silva, L; Alvares, P; da Fonte, P; Sobral, Ap; Silveira, M (2017). "Clinical and radiographic features of pycnodysostosis: A case report". Journal of Clinical and Experimental Dentistry: e1276–e1281. doi:10.4317/jced.54105. PMC 5694160. PMID 29167721.
Polymeropoulos, Mihael H.; Ortiz De Luna, Rosa Isela; Ide, Susan E.; Torres, Rosarelis; Rubenstein, Jeffrey; Francomano, Clair A. (June 1995). "The gene for pycnodysostosis maps to human chromosome 1cen–q21". Nature Genetics. 10 (2): 238–239. doi:10.1038/ng0695-238. PMID 7663522. S2CID 11723845.
Motyckova, G; Fisher, DE (2002). "Pycnodysostosis: role and regulation of cathepsin K deficiency in osteoclast function and human disease". Current Molecular Medicine. 2 (5): 407–421. doi:10.2174/1566524023362401. PMID 12125807.
Razmara, E; Azimi, H; Bitaraf, A; Daneshmand, MA; Galehdari, M; Dokhanchi, M; Esmaeilzadeh, E; Garshasbi, M (2020). "Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis". Molecular Genetics & Genomics Medicine. 3 (8): 1118. doi:10.1002/mgg3.1118. PMC 7057126. PMID 31944631.
Khirani, Sonia; Amaddeo, Alessandro; Baujat, Geneviève; Michot, Caroline; Couloigner, Vincent; Pinto, Graziella; Arnaud, Eric; Picard, Arnaud; Cormier-Daire, Valérie; Fauroux, Brigitte (January 2020). "Sleep-disordered breathing in children with pycnodysostosis". American Journal of Medical Genetics Part A. 182 (1): 122–129. doi:10.1002/ajmg.a.61393. PMID 31680459. S2CID 207889726.
Sayed Amr, Khalda; El-Bassyouni, Hala T.; Abdel Hady, Sawsan; Mostafa, Mostafa I.; Mehrez, Mennat I.; Coviello, Domenico; El-Kamah, Ghada Y. (29 September 2021). "Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease". Genes. 12 (10): 1552. doi:10.3390/genes12101552. PMC 8535549. PMID 34680947.
Doherty, Mia Aa; Langdahl, Bente L.; Vogel, Ida; Haagerup, Annette (February 2021). "Clinical and genetic evaluation of Danish patients with pycnodysostosis". European Journal of Medical Genetics. 64 (2): 104135. doi:10.1016/j.ejmg.2021.104135. PMID 33429075. S2CID 231587224.
LeBlanc, Shannon; Savarirayan, Ravi (1993). "Pycnodysostosis". GeneReviews®. Seattle: University of Washington. PMID 33151655.
Sait, Haseena; Srivastava, Priyanka; Gupta, Neerja; Kabra, Madhulika; Kapoor, Seema; Ranganath, Prajnya; Rungsung, Ikrormi; Mandal, Kausik; Saxena, Deepti; Dalal, Ashwin; Roy, Ajitesh; Pabbati, Jayalakshmi; Phadke, Shubha R. (July 2021). "Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis". European Journal of Medical Genetics. 64 (7): 104235. doi:10.1016/j.ejmg.2021.104235. PMID 33945887.

ncbi.nlm.nih.gov

Mujawar, Quais; Naganoor, Ravi; Patil, Harsha; Thobbi, Achyut Narayan; Ukkali, Sadashiva; Malagi, Naushad (December 2009). "Pycnodysostosis with unusual findings: a case report". Cases Journal. 2 (1): 6544. doi:10.4076/1757-1626-2-6544. PMC 2740175. PMID 19829823.
Rodrigues, C; Gomes, Fa; Arruda, Ja; Silva, L; Alvares, P; da Fonte, P; Sobral, Ap; Silveira, M (2017). "Clinical and radiographic features of pycnodysostosis: A case report". Journal of Clinical and Experimental Dentistry: e1276–e1281. doi:10.4317/jced.54105. PMC 5694160. PMID 29167721.
Razmara, E; Azimi, H; Bitaraf, A; Daneshmand, MA; Galehdari, M; Dokhanchi, M; Esmaeilzadeh, E; Garshasbi, M (2020). "Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis". Molecular Genetics & Genomics Medicine. 3 (8): 1118. doi:10.1002/mgg3.1118. PMC 7057126. PMID 31944631.
Sayed Amr, Khalda; El-Bassyouni, Hala T.; Abdel Hady, Sawsan; Mostafa, Mostafa I.; Mehrez, Mennat I.; Coviello, Domenico; El-Kamah, Ghada Y. (29 September 2021). "Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease". Genes. 12 (10): 1552. doi:10.3390/genes12101552. PMC 8535549. PMID 34680947.
LeBlanc, Shannon; Savarirayan, Ravi (1993). "Pycnodysostosis". GeneReviews®. Seattle: University of Washington. PMID 33151655.

rarediseases.org

"Pycnodysostosis". NORD (National Organization for Rare Disorders). Retrieved 2021-11-21.
"Osteopetrosis". NORD (National Organization for Rare Disorders). Retrieved 2021-12-04.

semanticscholar.org

api.semanticscholar.org

Gelb, Bruce D.; Shi, Guo-Ping; Chapman, Harold A.; Desnick, Robert J. (30 August 1996). "Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency". Science. 273 (5279): 1236–1238. Bibcode:1996Sci...273.1236G. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.
Polymeropoulos, Mihael H.; Ortiz De Luna, Rosa Isela; Ide, Susan E.; Torres, Rosarelis; Rubenstein, Jeffrey; Francomano, Clair A. (June 1995). "The gene for pycnodysostosis maps to human chromosome 1cen–q21". Nature Genetics. 10 (2): 238–239. doi:10.1038/ng0695-238. PMID 7663522. S2CID 11723845.
Khirani, Sonia; Amaddeo, Alessandro; Baujat, Geneviève; Michot, Caroline; Couloigner, Vincent; Pinto, Graziella; Arnaud, Eric; Picard, Arnaud; Cormier-Daire, Valérie; Fauroux, Brigitte (January 2020). "Sleep-disordered breathing in children with pycnodysostosis". American Journal of Medical Genetics Part A. 182 (1): 122–129. doi:10.1002/ajmg.a.61393. PMID 31680459. S2CID 207889726.
Doherty, Mia Aa; Langdahl, Bente L.; Vogel, Ida; Haagerup, Annette (February 2021). "Clinical and genetic evaluation of Danish patients with pycnodysostosis". European Journal of Medical Genetics. 64 (2): 104135. doi:10.1016/j.ejmg.2021.104135. PMID 33429075. S2CID 231587224.

winternet.com

"Dictionary of Botanical Epithets".