المؤلفون: Can Peng, SiYuan LinPeng, Xiufen Bu, XuanYu Jiang, LanPing Hu, Jun He, ShiHao Zhou

المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Trisomy 18p, Tetrasomy 18p, Isochromosome 18p, Prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/640e9bfef4f7421fab33662731689d9a

المؤلفون: Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 6, Pp 836-839 (2017)

مصطلحات موضوعية: Amniocentesis, Mosaic tetrasomy 18p, Prenatal diagnosis, Supernumerary isochromosome 18p, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455917302632; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/3c90904020b34f01906290e9f14c3c34

المؤلفون: Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Dai-Dyi Town, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 51, Iss 4, Pp 625-629 (2012)

مصطلحات موضوعية: isochromosome 18p syndrome, mosaic tetrasomy 18p, prenatal diagnosis, supernumerary isochromosome 18p, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455912001969; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/32c537e564074eb680a01ed24349307a

المؤلفون: Liehr, Thomas, Al-Rikabi, Ahmed

المصدر: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics

مصطلحات موضوعية: lcsh:Genetics, lcsh:QH426-470, cat-eye syndrome, small supernumerary marker chromosomes, Genetics, Pallister–Killian syndrome, isochromosome 18p, proximal tetrasomy 15q, Systematic Review, genotype–phenotype correlation, tetrasomy 9p

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::766317665a6d126cb0dd0c2a68e011f7
https://www.frontiersin.org/article/10.3389/fgene.2019.01131/full

المؤلفون: Karimzad Hagh, Javad, Liehr, Thomas, Ghaedi, Hamid, Mossalaeie, Mir Majid, Alimohammadi, Shohreh, Inanloo Hajiloo, Faegheh, Moeini, Zahra, Sarabi, Sadaf, Zare-Abdollahi, Davood

المصدر: International Journal of Molecular and Cellular Medicine

مصطلحات موضوعية: marker, prenatal, Tetrasomy, amniocentesis, small supernumerary marker chromosome (sSMC), Case Report, isochromosome 18p, polydactyly, cordocentesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b6f5de55ed1a91e0fb95d2ae3d728709
http://europepmc.org/articles/PMC5568194

المؤلفون: Tolva G., Silipigni R., Quarenghi A., Vergani P., Guerneri S., Milani D.

المساهمون: Tolva, G, Silipigni, R, Quarenghi, A, Vergani, P, Guerneri, S, Milani, D

مصطلحات موضوعية: isochromosome 18p, noninvasive prenatal testing, prenatal diagnosi, tetrasomy 18p, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 18, Female, Genetic Testing, Infant, Karyotyping, Pregnancy, Aneuploidy

Relation: info:eu-repo/semantics/altIdentifier/pmid/30549132; info:eu-repo/semantics/altIdentifier/wos/WOS:000460180500027; volume:45; issue:3; firstpage:705; lastpage:708; numberofpages:4; journal:THE JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH; http://hdl.handle.net/10281/246492; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058712838; http://obgyn.onlinelibrary.wiley.com/hub/journal/10.1111/(ISSN)1447-0756/

الاتاحة: http://hdl.handle.net/10281/246492
https://doi.org/10.1111/jog.13873
http://obgyn.onlinelibrary.wiley.com/hub/journal/10.1111/(ISSN)1447-0756/

المؤلفون: Schu-Rern Chern, Tsang-Ming Ko, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Tzu-Yun Chuang, Wayseen Wang, Chen-Wen Pan, Chih-Ping Chen, Chien-Wen Yang, Yi-Yung Chen

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 6, Pp 836-839 (2017)

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Isochromosome, Karyotype, Prenatal diagnosis, Chromosome Disorders, 030105 genetics & heredity, lcsh:Gynecology and obstetrics, 03 medical and health sciences, 0302 clinical medicine, Tetrasomy 18p, Pregnancy, Mosaic tetrasomy 18p, medicine, Humans, lcsh:RG1-991, In Situ Hybridization, Fluorescence, Gynecology, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Mosaicism, Infant, Newborn, Obstetrics and Gynecology, Supernumerary isochromosome 18p, medicine.disease, Aneuploidy, Uniparental disomy, Cytogenetic Analysis, Amniocentesis, Female, business, Chromosomes, Human, Pair 18, Live Birth, Fluorescence in situ hybridization, Comparative genomic hybridization, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c856f283af120ea17094e0231ce41acd
https://pubmed.ncbi.nlm.nih.gov/29241930

المؤلفون: 陳持平(Chih-Ping Chen)*, (Tsang-Ming Ko), (Yi-Ning Su), (Schu-Rern Chern), (Jun-Wei Su), (Yu-Ting Chen), (Dai-Dyi Town), (Wayseen Wang)

المساهمون: 中醫學院中醫學系學士班中醫內科學科, 中國附醫醫學研究部

مصطلحات موضوعية: isochromosome 18p syndrome, mosaic tetrasomy 18p, prenatal diagnosis, supernumerary isochromosome 18p

Relation: Taiwanese Journal of Obstetrics & Gynecology 51(4):625-629; http://ir.cmu.edu.tw/ir/handle/310903500/47764; http://ir.cmu.edu.tw/ir/bitstream/310903500/47764/-1/AA-BA00_20130109143017.doc

الاتاحة: http://ir.cmu.edu.tw/ir/handle/310903500/47764
http://ir.cmu.edu.tw/ir/bitstream/310903500/47764/-1/AA-BA00_20130109143017.doc

المؤلفون: Goto, Ayako, Shirotani, Goro, Kakura, Hiroya, Moriyasu, Yoshio, Ihara, Yukiko, Hayashi, Hitomi, Tsurusawa, Reimi, Yoshikane, Yukako, Inoue, Takahito, Kodama, Takashi, Ide, Kouji, Hirose, Shinichi, Ogawa, Atsushi

المصدر: 福岡大学医学紀要 = Medical Bulletin of Fukuoka University. 40(3-4):193-195

مصطلحات موضوعية: Isochromosome 18p, Radioscopy of the upper airway, Growth retardation, 3 dimensional CT, Tracheomalacia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::d0c839b95795970d065a2e2523ed3dc5
http://id.nii.ac.jp/1316/00002050/

المؤلفون: Dutra, Ana Rosa Noronha UNIFESP, Mancini, Tatiane Iris UNIFESP, Takeno, Sylvia Satomi UNIFESP, Oliveira, Marcio Moyses de UNIFESP, Kim, Chong A., Perez, Ana Beatriz Alvarez UNIFESP, Kulikowski, Leslie Domenici UNIFESP, Melaragno, Maria Isabel UNIFESP

المساهمون: Universidade Federal de São Paulo (UNIFESP), Universidade de São Paulo (USP)

مصطلحات موضوعية: BAC, Cytogenetic analysis, FISH, Isochromosome 18p, MLPA, SNP array, Tetrasomy, Trisomy

وصف الملف: 1-4

Relation: Cytogenetic and Genome Research; http://dx.doi.org/10.1159/000339566; Cytogenetic and Genome Research. Basel: Karger, v. 138, n. 1, p. 1-4, 2012.; http://repositorio.unifesp.br/handle/11600/34499; WOS:000308976400001

الاتاحة: http://repositorio.unifesp.br/handle/11600/34499
https://doi.org/10.1159/000339566

المؤلفون: Kotzot, Dieter, Bundscherer, Gertrud, Bernasconi, Fabiana, Brecevic, Lukrecija, Lurie, Iosif W, Basaran, Seher, Baccicchetti, Carlo, Höller, Adelheid, Castellan, Claudio, Braun-Quentin, Cordula, Pfeiffer, Rudolph A, Schinzel, Albert

المصدر: Kotzot, Dieter; Bundscherer, Gertrud; Bernasconi, Fabiana; Brecevic, Lukrecija; Lurie, Iosif W; Basaran, Seher; Baccicchetti, Carlo; Höller, Adelheid; Castellan, Claudio; Braun-Quentin, Cordula; Pfeiffer, Rudolph A; Schinzel, Albert (1996). Isochromosome 18p Results from Maternal Meiosis II Nondisjunction. European Journal of Human Genetics, 4(3):168-174.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics, Tetrasomy 18p, Isochromosome 18p, Fluorescence in situ hybridization, FISH, Chromosome aberration, origin of Meiotic nondisjunction

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/232905/1/000472191.pdf; info:pmid/8840117; urn:issn:1018-4813

الاتاحة: https://www.zora.uzh.ch/id/eprint/232905/
https://www.zora.uzh.ch/id/eprint/232905/1/000472191.pdf
https://www.nature.com/articles/000472191
https://doi.org/10.1159/000472191

المؤلفون: Dieter Kotzot, Lukrecija Brecevic, F. Bernasconi, Albert Schinzel, Gertrud Bundscherer, Adelheid Höller, Cordula Braun-Quentin, Seher Başaran, Carlo Baccicchetti, Iosif W. Lurie, Rudolph A. Pfeiffer, Claudio Castellan

المساهمون: University of Zurich, Kotzot, Dieter

المصدر: European journal of human genetics : EJHG. 4(3)

مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Marker chromosome, Isochromosome, 610 Medicine & health, Biology, Genomic Imprinting, Tetrasomy 18p, Meiosis, 1311 Genetics, FISH, Nondisjunction, Genetic, medicine, Genetics, Humans, Allele, Child, Genetics (clinical), Isochromosome 18p, Meiosis II, Fluorescence in situ hybridization, medicine.disease, Pedigree, origin of Meiotic nondisjunction, Nondisjunction, Child, Preschool, 570 Life sciences, biology, Female, Chromosome aberration, Trisomy, Chromosomes, Human, Pair 18, Microsatellite Repeats

وصف الملف: 000472191.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc44910cbbe7ff94e2f856349e76b73
https://pubmed.ncbi.nlm.nih.gov/8840117

المؤلفون: Tolva, G, Silipigni, R, Quarenghi, A, Vergani, P, Guerneri, S, Milani, D, Tolva G., Silipigni R., Quarenghi A., Vergani P., Guerneri S., Milani D.

مصطلحات الفهرس: isochromosome 18p, noninvasive prenatal testing, prenatal diagnosi, tetrasomy 18p, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 18, Female, Genetic Testing, Human, Infant, Karyotyping, Pregnancy, Prenatal Diagnosi, Aneuploidy, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/246492
http://obgyn.onlinelibrary.wiley.com/hub/journal/10.1111/(ISSN)1447-0756/
info:eu-repo/semantics/altIdentifier/pmid/30549132
info:eu-repo/semantics/altIdentifier/wos/WOS:000460180500027
volume:45
issue:3
firstpage:705
lastpage:708
numberofpages:4
journal:THE JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH