Υποπλασία χόνδρων-τριχών (Greek Wikipedia)

Analysis of information sources in references of the Wikipedia article "Υποπλασία χόνδρων-τριχών" in Greek language version.

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11nih.gov

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10doi.org

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archive.org

«Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations». The Journal of Allergy and Clinical Immunology 122 (6): 1178–84. 2008. doi:10.1016/j.jaci.2008.07.036. PMID 18804272. https://archive.org/details/sim_journal-of-allergy-and-clinical-immunology_2008-12_122_6/page/1178.
Topper, J. N.; Clayton, D. A. (1990). «Characterization of human MRP/Th RNA and its nuclear gene: Full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP». Nucleic Acids Research 18 (4): 793–799. doi:10.1093/nar/18.4.793. PMID 1690392. PMC 330329. https://archive.org/details/sim_nucleic-acids-research_1990-02-25_18_4/page/n102.
Mäkitie, O; Kaitila, I (1993). «Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients». European Journal of Pediatrics 152 (3): 211–7. doi:10.1007/bf01956147. PMID 8444246. https://archive.org/details/sim_european-journal-of-pediatrics_1993-03_152_3/page/211.
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). «Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia». The Journal of Pediatrics 86 (6): 868–72. doi:10.1016/s0022-3476(75)80216-2. PMID 165279. https://archive.org/details/sim_journal-of-pediatrics_1975-06_86_6/page/868.

doi.org

dx.doi.org

«Uniparental disomy in cartilage-hair hypoplasia». European Journal of Human Genetics 5 (1): 35–42. 1997. doi:10.1159/000484729. PMID 9156319.
«RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms». Clinical Genetics 61 (2): 146–51. February 2002. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090.
«Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia». Cell 104 (2): 195–203. 2001. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361.
«RNase MRP RNA and human genetic diseases». Cell Research 17 (3): 219–26. 2007. doi:10.1038/sj.cr.7310120. PMID 17189938.
«Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations». The Journal of Allergy and Clinical Immunology 122 (6): 1178–84. 2008. doi:10.1016/j.jaci.2008.07.036. PMID 18804272. https://archive.org/details/sim_journal-of-allergy-and-clinical-immunology_2008-12_122_6/page/1178.
Hsieh, C. L.; Donlon, T. A.; Darras, B. T.; Chang, D. D.; Topper, J. N.; Clayton, D. A.; Francke, U (1990). «The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4». Genomics 6 (3): 540–544. doi:10.1016/0888-7543(90)90483-b. PMID 2328993.
Topper, J. N.; Clayton, D. A. (1990). «Characterization of human MRP/Th RNA and its nuclear gene: Full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP». Nucleic Acids Research 18 (4): 793–799. doi:10.1093/nar/18.4.793. PMID 1690392. PMC 330329. https://archive.org/details/sim_nucleic-acids-research_1990-02-25_18_4/page/n102.
Sulisalo, T; Sistonen, P; Hästbacka, J; Wadelius, C; Mäkitie, O; de la Chapelle, A; Kaitila, I (1993). «Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis». Nature Genetics 3 (4): 338–341. doi:10.1038/ng0493-338. PMID 7981754.
Mäkitie, O; Kaitila, I (1993). «Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients». European Journal of Pediatrics 152 (3): 211–7. doi:10.1007/bf01956147. PMID 8444246. https://archive.org/details/sim_european-journal-of-pediatrics_1993-03_152_3/page/211.
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). «Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia». The Journal of Pediatrics 86 (6): 868–72. doi:10.1016/s0022-3476(75)80216-2. PMID 165279. https://archive.org/details/sim_journal-of-pediatrics_1975-06_86_6/page/868.

nih.gov

ncbi.nlm.nih.gov

«Uniparental disomy in cartilage-hair hypoplasia». European Journal of Human Genetics 5 (1): 35–42. 1997. doi:10.1159/000484729. PMID 9156319.
«RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms». Clinical Genetics 61 (2): 146–51. February 2002. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090.
«Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia». Cell 104 (2): 195–203. 2001. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361.
«RNase MRP RNA and human genetic diseases». Cell Research 17 (3): 219–26. 2007. doi:10.1038/sj.cr.7310120. PMID 17189938.
«Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations». The Journal of Allergy and Clinical Immunology 122 (6): 1178–84. 2008. doi:10.1016/j.jaci.2008.07.036. PMID 18804272. https://archive.org/details/sim_journal-of-allergy-and-clinical-immunology_2008-12_122_6/page/1178.
Hsieh, C. L.; Donlon, T. A.; Darras, B. T.; Chang, D. D.; Topper, J. N.; Clayton, D. A.; Francke, U (1990). «The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4». Genomics 6 (3): 540–544. doi:10.1016/0888-7543(90)90483-b. PMID 2328993.
Topper, J. N.; Clayton, D. A. (1990). «Characterization of human MRP/Th RNA and its nuclear gene: Full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP». Nucleic Acids Research 18 (4): 793–799. doi:10.1093/nar/18.4.793. PMID 1690392. PMC 330329. https://archive.org/details/sim_nucleic-acids-research_1990-02-25_18_4/page/n102.
Sulisalo, T; Sistonen, P; Hästbacka, J; Wadelius, C; Mäkitie, O; de la Chapelle, A; Kaitila, I (1993). «Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis». Nature Genetics 3 (4): 338–341. doi:10.1038/ng0493-338. PMID 7981754.
Mäkitie, O; Kaitila, I (1993). «Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients». European Journal of Pediatrics 152 (3): 211–7. doi:10.1007/bf01956147. PMID 8444246. https://archive.org/details/sim_european-journal-of-pediatrics_1993-03_152_3/page/211.
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). «Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia». The Journal of Pediatrics 86 (6): 868–72. doi:10.1016/s0022-3476(75)80216-2. PMID 165279. https://archive.org/details/sim_journal-of-pediatrics_1975-06_86_6/page/868.

pubmedcentral.nih.gov

Topper, J. N.; Clayton, D. A. (1990). «Characterization of human MRP/Th RNA and its nuclear gene: Full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP». Nucleic Acids Research 18 (4): 793–799. doi:10.1093/nar/18.4.793. PMID 1690392. PMC 330329. https://archive.org/details/sim_nucleic-acids-research_1990-02-25_18_4/page/n102.