نتائج البحث

1

دورية أكاديمية

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

المؤلفون: Tang, CSM, Mononen, M, Lam, WY, Jin, SC, Zhuang, XH, Garcia-Barcelo, MM, Lin, QF, Yang, YJ, Sahara, M, Eroglu, E, Chien, KR, Hong, HF, Tam, PKH, Gruber, PJ

المصدر: JCI insight. 7(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:148656785Test

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النص الكامل

2

دورية أكاديمية

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

المصدر: Mederer , T , Schmitteckert , S , Volz , J , Martinez , C , Roth , R , Thumberger , T , Eckstein , V , Scheuerer , J , Thoni , C , Lasitschka , F , Carstensen , L , Gunther , P , Holland-Cunz , S , Hofstra , R , Brosens , E , Rosenfeld , JA , Schaaf , CP , Schriemer , D , Ceccherini , I , Rusmini , M , Tilghman , J , Luzon-Toro , B , Torroglosa , A , Borrego , S , Tang , CSM ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1371/journal.pgen.1009106Test
https://pure.eur.nl/en/publications/bb43ec44-4e59-4615-8e1b-ce6096ab2967Test
https://pure.eur.nl/ws/files/48392080/Repub_132288_O-A.pdfTest
http://hdl.handle.net/1765/132288Test

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3

دورية أكاديمية

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

المصدر: Gui , HS , Schriemer , D , Cheng , W , Chauhan , R , Antinolo , G , Berrios , C , Bleda , M , Brooks , A , Brouwer , R , Burns , A , Cherny , SS , Dopazo , J , Eggen , BJL , Griseri , P , Jalloh , B , Le , TL , Lui , VCH , Luzon-Toro , B , Matera , I , Ngan , ESW , Pelet , A , Ruiz-Ferrer , M , Sham , PC , Shepherd , IT , So , MT ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13059-017-1174-6Test
https://pure.eur.nl/en/publications/b270439a-905c-416a-b13f-b85a46b5db60Test
https://pure.eur.nl/ws/files/47792141/REPUB_98554_OA.pdfTest
http://hdl.handle.net/1765/98554Test

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4

دورية أكاديمية

Genome-wide copy number variation study in anorectal malformations

المؤلفون: Tang, CSM, Chung, HY, Sun, LD, Ren, YQ, Yin, XY, Miao, X, Liu, JJ, Yuan, ZW, Zhang, SW, Xia, JL, Wang, HL, Sun, XB, Wang, RY, Chan, IHY, Chang, T, Zhang, XJ, Wong, EHM, Cui, L, So, MT, Yip, BHK, Cheng, G, Zhang, R, Baum, L, Kwan, P, Ngan, ESW, Cherny, SS, Wong, KKY, Garcia-Barcelo, MM, Yang, W, Lau, YL, Tam, PKH, Lui, VCH, Sham, PC, Liu, X, Tang, WK, Zuo, XB, Ng, CL

مصطلحات موضوعية: Animal tissue, Single nucleotide polymorphism, WNT signaling pathway, Anorectal malformation, Chromosome aberration

العلاقة: Human Molecular Genetics; Human Molecular Genetics, 2013, v. 22 n. 3, p. 621-631; 631; 213467; WOS:000313531500017; eid_2-s2.0-84872402412; 621; http://hdl.handle.net/10722/181686Test; 22

الإتاحة: https://doi.org/10.1093/hmg/dds451Test
http://hdl.handle.net/10722/181686Test

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النص الكامل

5

دورية أكاديمية

A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits

المؤلفون: Hur, YM, Fang, YJ, Gui, H, Yip, BH, Lam, TH, Tomlinson, B, Thomas, NG, Sham, PC, Guo, Y, Chu, T, Cherny, SS, Tang, CSM

مصطلحات موضوعية: Chromosome 1q, Blood pressure measurement, Chromosome 5q, Chromosome 2q, Chinese

العلاقة: PLoS ONE; SNP-based genome-wide screen for susceptibility genes for hypertension: a sibling study; http://www.scopus.com/mlt/select.url?eid=2-s2.0-84863173053&selection=ref&src=s&origin=recordpageTest; Plos One, 2012, v. 7 n. 2; 200125; WOS:000302916800015; PMC3286457; eid_2-s2.0-84863173053; http://hdl.handle.net/10722/151766Test

الإتاحة: https://doi.org/10.1371/journal.pone.0031489Test
http://hdl.handle.net/10722/151766Test

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النص الكامل

6

دورية أكاديمية

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

المؤلفون: Tang, CSM, Song, YQ, Scherer, S, GarciaBarceló, MM, So, MT, Cheng, G, Yip, BHK, Miao, XP, Wong, EHM, Ngan, ESW, Lui, VCH, Wong, KKY, Cherny, SS, Sham, PC, Tam, PKH, Chan, D, Cheung, K, Yuan, ZW, Lei, L, Liu, XL, Marshall, CR, Chung, HY

مصطلحات موضوعية: Copy number variation, Gene deletion, Gene duplication, Gene expression regulation, Gene frequency

العلاقة: PLoS Genetics; Developmental genomics and skeletal research; Identification of functional variants in Neuregulin-1 (NRG1), a newly discovered Hirschsprung s disease gene; Genetic dissection of Hirschsprung's disease; http://www.scopus.com/mlt/select.url?eid=2-s2.0-84863680217&selection=ref&src=s&origin=recordpageTest; Plos Genetics, 2012, v. 8 n. 5; 200158; WOS:000304864000018; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1553-7390&volume=8&issue=5&spage=e1002687&epage=&date=2012&atitle=Genome-Wide+Copy+Number+Analysis+Uncovers+a+New+HSCR+Gene:+NRG3Test; PMC3349728; eid_2-s2.0-84863680217; http://hdl.handle.net/10722/149062Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1002687Test
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1553-7390&volume=8&issue=5&spage=e1002687&epage=&date=2012&atitle=Genome-Wide+Copy+Number+Analysis+Uncovers+a+New+HSCR+Gene:+NRG3Test
http://hdl.handle.net/10722/149062Test

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النص الكامل

7

دورية أكاديمية

Fine mapping of the NRG1 hirschsprung's disease locus

المؤلفون: Chung, HY, Tang, CSM, Leon, TYY, Yip, BHK, Chen, Y, Wong, KKY, Sham, PC, Lui, VCH, GarciaBarceló, MM, Ngan, ESW, Tang, WK, Leung, BMC, Miao, XP, So, MT, Tam, PKH, Wu, XZ, Cherny, SS, Liu, XL, Chan, IHY

مصطلحات موضوعية: Human Tissue, Controlled Study, Ethnic Group, Chinese, Gene Mutation, Genetic Association, Genetic Predisposition, Gene Mapping, Genotype, Gene Expression, Gene Identification, Gene Locus, Single Nucleotide Polymorphism, Nucleotide Sequence, Hirschsprung Disease, Human, Major Clinical Study

العلاقة: PLoS ONE; Identification of functional variants in Neuregulin-1 (NRG1), a newly discovered Hirschsprung s disease gene; http://www.scopus.com/mlt/select.url?eid=2-s2.0-79251616918&selection=ref&src=s&origin=recordpageTest; Plos One, 2011, v. 6 n. 1; 175675; 184635; WOS:000286522200033; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1932-6203&volume=6&issue=1Test, article no. e16181&spage=&epage=&date=2010&atitle=Fine+mapping+of+the+NRG1+Hirschsprung’s+disease+locus; PMC3024406; eid_2-s2.0-79251616918; http://hdl.handle.net/10722/125323Test

الإتاحة: https://doi.org/10.1371/journal.pone.0016181Test
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1932-6203&volume=6&issue=1Test, article no. e16181&spage=&epage=&date=2010&atitle=Fine+mapping+of+the+NRG1+Hirschsprung’s+disease+locus
http://hdl.handle.net/10722/125323Test

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النص الكامل

8

دورية أكاديمية

A Structural Split in the Human Genome

المؤلفون: Tang, CSM, Epstein, RJ

المساهمون: Bourque, Guillaume

المصدر: urn:ISSN:1932-6203 ; PLoS ONE, 2, 7, e603

مصطلحات موضوعية: Human Genome, Genetics, Animals, Base Composition, CpG Islands, DNA Transposable Elements, Evolution, Molecular, Genome, Human, Humans, Introns, Multigene Family, Mutation, Promoter Regions, Genetic, Pseudogenes, Species Specificity, Transcription

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_66851Test; https://unsworks.unsw.edu.au/bitstreams/81f3223f-b4ab-45aa-bf64-b311e9a2436e/downloadTest; https://doi.org/10.1371/journal.pone.0000603Test

الإتاحة: https://doi.org/10.1371/journal.pone.0000603Test
http://hdl.handle.net/1959.4/unsworks_66851Test
https://unsworks.unsw.edu.au/bitstreams/81f3223f-b4ab-45aa-bf64-b311e9a2436e/downloadTest

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9

مؤتمر

Unraveling the genetic basis of nasopharyngeal carcinoma using next-generation sequencing approaches

المؤلفون: Dai, W, Tang, CSM, Sham, PC, Lung, ML, Ko, JMY, Cheung, AKL, Zheng, H

العلاقة: Annual Meeting of the American Association for Cancer Research, AACR 2015; The 106th Annual Meeting of the American Association for Cancer Research (AACR 2015), Philadelphia, PA., 18-22 April 2015.; 265967; 244855; http://hdl.handle.net/10722/211404Test

الإتاحة: http://hdl.handle.net/10722/211404Test

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10

دورية أكاديمية

HLA - B * 38 : 02 : 01 Predicts Carbimazole/Methimazole-Induced Agranulocytosis

المؤلفون: Cheung, C-L, Sing, C-W, Tang, CSM, Cheng, VKF, Pirmohamed, M, Choi, C-H, Hung, C-S, Lau, EY-F, Lee, KF, Mak, MW-H, Leung, JYY, Wong, T-W, Ho, AYY, Chan, K-W, Hung, VHF, Tam, V, Siu, S-C, Pang, H-K, Wat, WZ-M, Lee, HH-Y, Chung, C-T, Hue, RS-M, Sham, P-C, Cheung, BMY, Wong, ICK, Tan, KCB, Kung, AWC

وصف الملف: text

العلاقة: http://livrepository.liverpool.ac.uk/3003216/1/2015_ATD_MS_Final_revision.docxTest; http://livrepository.liverpool.ac.uk/3003216/2/2015_ATD_MS_Table_Final.docxTest; http://livrepository.liverpool.ac.uk/3003216/3/SupplementaryInfo.docxTest; http://livrepository.liverpool.ac.uk/3003216/4/Acceptanceletter.pdfTest; Collapse authors list. Cheung, C-L, Sing, C-W, Tang, CSM, Cheng, VKF, Pirmohamed, M orcid:0000-0002-7534-7266 , Choi, C-H, Hung, C-S, Lau, EY-F, Lee, KF, Mak, MW-H et al (show 17 more authors) , Leung, JYY, Wong, T-W, Ho, AYY, Chan, K-W, Hung, VHF, Tam, V, Siu, S-C, Pang, H-K, Wat, WZ-M, Lee, HH-Y, Chung, C-T, Hue, RS-M, Sham, P-C, Cheung, BMY, Wong, ICK, Tan, KCB and Kung, AWC (2016) HLA - B * 38 : 02 : 01 Predicts Carbimazole/Methimazole-Induced Agranulocytosis. CLINICAL PHARMACOLOGY & THERAPEUTICS, 99 (5). pp. 555-561.

الإتاحة: http://livrepository.liverpool.ac.uk/3003216Test/
http://livrepository.liverpool.ac.uk/3003216/1/2015_ATD_MS_Final_revision.docxTest
http://livrepository.liverpool.ac.uk/3003216/2/2015_ATD_MS_Table_Final.docxTest
http://livrepository.liverpool.ac.uk/3003216/3/SupplementaryInfo.docxTest
http://livrepository.liverpool.ac.uk/3003216/4/Acceptanceletter.pdfTest

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