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參考文獻(xiàn)：

[1]《基因組學(xué)》楊煥明, 科學(xué)出版社 2016

[2]《基因組: 人種自傳23章》[英]馬特·里德/著, 劉菁/譯, 北京理工大學(xué)出版社 2003

[3]《實(shí)用遺傳咨詢》(英)P.S.哈珀, 科學(xué)出版社 2018

[4]《臨床遺傳咨詢》陸國輝, 北京大學(xué)醫(yī)學(xué)出版社

[5]《臨床遺傳代謝病》顧學(xué)范，人民衛(wèi)生出版社 2015

[6]《醫(yī)學(xué)遺傳學(xué)》鄔玲仟, 張學(xué), 人民衛(wèi)生出版社 2016:457-461

[7] U.S National Library of Medicine. (2019)

[8] Miga KH. 2016. Chromosome-specific centromere sequences provide an estimate of the ancestral chromosome 2 fusion event in hominin genomes.?J Hered. 108(1):45–52.?

[9] Stankiewicz P. One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?.?Mol Cytogenet. 2016;9:72. Published 2016 Sep 26. doi:10.1186/s13039-016-0283-3

[10] International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.?Neurology.?1994;44:1533–6.?

[11] Hillier, L., Graves, T., Fulton, R. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434, 724–731 (2005).

[12] Avis T, Clark EK, Flack TL, Mohammadi M, Milne S, Niblett D, Palmer S, Phillips S, Smalley C, Tagney M, Thorpe KL, Tubby B, Westrop J, Beck S. The chromosome 6 sequencing project at the Sanger Centre.?DNA Sequence.?1997;8:131–136.

[13] Tiwari, J. L. & Terasaki, P. I.?HLA and Disease Associations?(Springer Verlag, Berlin, 1985)

[14] Avis T, Clark EK, Flack TL, Mohammadi M, Milne S, Niblett D, Palmer S, Phillips S, Smalley C, Tagney M, Thorpe KL, Tubby B, Westrop J, Beck S. The chromosome 6 sequencing project at the Sanger Centre.?DNA Sequence.?1997;8:131–136.

[15] Mungall, A. J. et al. The DNA sequence and analysis of human chromosome 6. Nature 25, 805-811 ( October 23, 2003 ).

[16] Lenhoff, H. M., Perales, O., Hickok, G.?Absolute pitch in?Williams?syndrome.?Music Perception 18: 491-503, 2001.

[17] Scherer?SW,?Cheung?J,?MacDonald?JR, et al.?Human chromosome 7: DNA sequence and biology.?Science.?300?(5620):?767–72.

[18] Huppi K, Pitt JJ, Wahlberg BM, Caplen NJ. The 8q24 gene desert: an oasis of non-coding transcriptional activity.?Front Genet. 2012;3:69. Published 2012 Apr 30. doi:10.3389/fgene.2012.00069

[19] Nusbaum, C., Mikkelsen, T., Zody, M.?et al.?DNA sequence and analysis of human chromosome 8.?Nature?439,?331–335 (2006).?

[20] Tabarés-Seisdedos R, Rubenstein JL. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry. 2009,?14?(6): 563–89.?

[21]Patterson,?D.Molecular?genetic?analysis?of?Down?syndrome.?Human?Genetics.?2009, 126?(1):?195–214.

[22] Weijerman?ME,?de?Winter?JP.?"Clinical practice. The care of children with Down syndrome.".?European?journal?of?pediatrics.?2010, 169?(12):?1445–52.?

[23] Hickey?F,?Hickey?E,?Summar?KL. Medical update for children with Down syndrome for the?pediatrician?and?family?practitioner.?Advances?in?Pediatrics.?59?(1):?137–57.

[24] Chervenak, FA, McCullough, LB.?Ethical considerations in first-trimester Down syndrome risk assessment. Current?opinion?in?obstetrics?&?gynecology.?22?(2):?135–8.

[25] World Down Syndrome Day. Down Syndrome International. Retrieved 2 February 2014.

[26] Deloukas, P., Earthrowl, M., Grafham, D.?et al.?The DNA sequence and comparative analysis of human chromosome 10.?Nature?429,?375–381 (2004).

[27] Riaz N; Steinberg S; Ahmad J; et al.?Genomewide significant linkage to stuttering on chromosome 12. Am. J. Hum. Genet. April 2005,?76?(4): 647–51.

[28] Leem, S., Londo?o-Vallejo, J., Kim, J.?et al.?The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions.?Oncogene?21,?769–777 (2002).

[29] Cong YS, Wright WE, Shay JW. Human telomerase and its regulation.?Microbiol Mol Biol Rev. 2002;66(3):407–425. doi:10.1128/mmbr.66.3.407-425.2002

[30] Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation.?Cell. 2011;144(5):646–674. doi:10.1016/j.cell.2011.02.013

[31] Gene Therapy of the Central Nervous System: From Bench to Bedside, edited by?Michael G.?Kaplitt?and Matthew J. During. Amsterdam: Elsevier, 2006.

[32] Martin, J., Han, C., Gordon, L.?et al.?The sequence and analysis of duplication-rich human chromosome 16.?Nature?432,?988–994 (2004).

[33] Angelina Jolie. My?Medical?Choice[J]. The New York Times, 2015.

[34] Nusbaum, C., Zody, M., Borowsky, M. et al. DNA sequence and analysis of human chromosome 18. Nature 437, 551–555 (2005).

[35] Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.?Proceedings of the National Academy of Sciences?of?the?United?States?of America.?1993;90(5):1977–81.

[36] Burns?A,?Iliffe?S.?Alzheimer's?disease[J].?The BMJ.?2009, 338:?b158.

[37] "Creutzfeldt–Jakob Disease Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. March 2003. Archived from the original on 4 July 2017. Retrieved 16 July 2017.

[38] 范明遠(yuǎn). 人類瘋牛病(變異型克雅氏病) [J]. 實(shí)用預(yù)防醫(yī)學(xué), 2003, 010(001):116-119.

[39] Wenger, T.L., Miller, J.S., DePolo, L.M.?et al.?22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.?Molecular Autism?7,?27 (2016).

[40] Phelan K, Phelan K, McDermid H, E: The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol 2011;2:186-201. doi: 10.1159/000334260

[41] Ko JM, Kim JB, Pai KS, Yun JN, Park SJ.???Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome.?? J Korean Med Sci. 2010 Dec;25(12):1798-1801. ?

[42] Dunham, I., Hunt, A., Collins, J.?et al.?The DNA sequence of human chromosome 22.?Nature?402,?489–495 (1999).

[43] David H. Skuse, X-linked genes and mental functioning,?Human Molecular Genetics, Volume 14, Issue suppl_1, 15 April 2005, Pages R27–R32,

[44] Aitken, R. John, and Jennifer A. Marshall Graves. "Human spermatozoa: the future of sex." Nature 415.6875 (2002): 963.

[45] https://www.nature.com/articles/nature04727

[46] http://asia.ensembl.org/

[47] https://en.wikipedia.org/wiki/Chromosome

[48] http://www.ncbi.nlm.nih.gov/Omim/mimstats.html

[49] https://www.nhs.uk/news/cancer/why-elephants-hardly-ever-get-cancer-and-how-that-can-help-us/

[50] OMIM: 194050

[51] OMIM: 202110

[52] OMIM: 176943

[53] OMIM: 601728

[54] OMIM: 164761

[55] OMIM: 130650

[56] OMIM: 600160

[57] OMIM: 230400

[58] OMIM: 605284

[59] OMIM: 183090

[60] OMIM: 191170

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