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1Academic Journal
المؤلفون: Özer, E., Geyik, F., Ünkar, Z.A., Ercan, O., Tüysüz, B.
مصطلحات موضوعية: 11p15 hypomethylation, Intrauterine growth restriction, Metabolic disorder, MLPA, Short stature, Silver-Russell syndrome, adolescent, Article, birth length, bone age, child, chromosome 11p, chromosome 14q, chromosome 20q, chromosome 6q, chromosome 7p, chromosome 7q, clinodactyly, controlled study, cryptorchism, dyslipidemia, female, follow up, frontal bossing, head circumference, human, human chromosome, hypercalciuria, hyperlipidemia, hypospadias
Relation: Molecular Syndromology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1159/000518630; https://hdl.handle.net/20.500.12831/17870; 13; 108; 116; 2-s2.0-85117445651
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2Academic Journal
المؤلفون: Siokas V., Aloizou A.-M., Liampas I., Bakirtzis C., Nasios G., Paterakis K., Sgantzos M., Bogdanos D.P., Spandidos D.A., Tsatsakis A., Mitsias P.D., Dardiotis E.
المصدر: Molecular Medicine Reports ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85125572199&doi=10.3892%2fmmr.2022.12662&partnerID=40&md5=4b6afe201a96672fc8cabb8f9321b003
مصطلحات موضوعية: adult, amyotrophic lateral sclerosis, Article, case control study, chromosome 14q, controlled study, female, gene, gene frequency, gene locus, genetic association, genetic model, genetic polymorphism, genetic susceptibility, genetic variability, genome-wide association study, genotype, human, major clinical study, male, middle aged, onset age, risk assessment, risk factor, sec1 family domain containing 1 gene, single nucleotide polymorphism, degenerative disease, genetics, Humans, Neurodegenerative Diseases
Relation: http://hdl.handle.net/11615/79020
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3Academic Journal
المؤلفون: Davies, G, Armstrong, N, Bis, J.C
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Unpaywall 20201031
مصطلحات موضوعية: apolipoprotein E, high mobility group N1 protein, interleukin 15, transfer RNA, adult, Article, cell cycle, cell death, cell survival, chromosome 14q, chromosome 19q, chromosome 21, chromosome 6q, cognition, cohort analysis, cytokine production, female, gene frequency, gene linkage disequilibrium, gene location, genetic association, genetic trait, genetic variability, genomics, genotype phenotype correlation, heritability, human, male, middle aged, phenotype
Relation: Davies, G, Armstrong, N, Bis, J.C (2015). Genetic contributions to variation in general cognitive function: A meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949). Molecular Psychiatry 20 (2) : 183-192. ScholarBank@NUS Repository. https://doi.org/10.1038/mp.2014.188; https://scholarbank.nus.edu.sg/handle/10635/180111
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4Report
المؤلفون: Stephanie L. Santoro, Liming Bao, and Howard M. Saal
مصطلحات موضوعية: Chromosome 14q, Duplication, Terminal deletion, Cytogenomic array, Dysmorphic facial features, del: Deletion, dup: Duplication, NAHR: Non-Allelic Homologous Recombination, HIDA: Hydroxy Iminodiacetic Acid, GI: Gastrointestinal, CPAM: Congenital Cystic Adenomatoid Malformation
وصف الملف: application/pdf
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5Academic Journal
مصطلحات موضوعية: anteverted nostril, agenesis, article, birth weight, blepharophimosis, body height, body weight, C banding, case report, chromosome 14q, chromosome breakage, chromosome translocation, chromosome Xp, chromosome Yp, congenital heart malformation, corpus callosum, cytogenetics, DNA microarray, eye malformation, face dysmorphia, flatfoot, fluorescence in situ hybridization, gait disorder, gene deletion, gene duplication, growth retardation, head circumference, hearing impairment, hernia, heterochromatin
Relation: Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/8798; https://doi.org/10.1097/MCD.0b013e32834d6ba3; 21; 37; 41; WOS:000298148400010
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6Academic Journal
المؤلفون: Wiggs J.L., Yaspan B.L., Hauser M.A., Kang J.H., Allingham R.R., Olson L.M., Abdrabou W., Fan B.J., Wang D.Y., Brodeur W., Budenz D.L., Caprioli J., Crenshaw A., Crooks K., DelBono E., Doheny K.F., Friedman D.S., Gaasterland D., Gaasterland T., Laurie C., Lee R.K., Lichter P.R., Loomis S., Liu Y., Medeiros F.A., McCarty C., Mirel D., Moroi S.E., Musch D.C., Realini A., Rozsa F.W., Schuman J.S., Scott K., Singh K., Stein J.D., Trager E.H., VanVeldhuisen P., Vollrath D., Wollstein G., Yoneyama S., Zhang K., Weinreb R.N., Ernst J., Kellis M., Masuda T., Zack D., Richards J.E., Pericak-Vance M., Pasquale L.R., Haines J.L.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Unpaywall 20191101
مصطلحات موضوعية: animal experiment, animal model, animal tissue, article, CDKN2BAS gene, chromosome 14q, chromosome 8q, chromosome 9p, controlled study, disease association, disease classification, DNA sequence, exfoliation syndrome, gene, gene expression profiling, gene function, gene location, gene locus, genetic association, genetic identification, genetic susceptibility, genetic variability, human, intraocular pressure, LRP12 gene, major clinical study, mouse, nerve degeneration, nonhuman, open angle glaucoma
Relation: Wiggs J.L., Yaspan B.L., Hauser M.A., Kang J.H., Allingham R.R., Olson L.M., Abdrabou W., Fan B.J., Wang D.Y., Brodeur W., Budenz D.L., Caprioli J., Crenshaw A., Crooks K., DelBono E., Doheny K.F., Friedman D.S., Gaasterland D., Gaasterland T., Laurie C., Lee R.K., Lichter P.R., Loomis S., Liu Y., Medeiros F.A., McCarty C., Mirel D., Moroi S.E., Musch D.C., Realini A., Rozsa F.W., Schuman J.S., Scott K., Singh K., Stein J.D., Trager E.H., VanVeldhuisen P., Vollrath D., Wollstein G., Yoneyama S., Zhang K., Weinreb R.N., Ernst J., Kellis M., Masuda T., Zack D., Richards J.E., Pericak-Vance M., Pasquale L.R., Haines J.L. (2012). Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genetics 8 (4) : e1002654. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1002654; https://scholarbank.nus.edu.sg/handle/10635/161641
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7Academic Journal
المؤلفون: Ramdas W.D., van Koolwijk L.M.E., Ikram M.K., Jansonius N.M., de Jong P.T.V.M., Bergen A.A.B., Isaacs A., Amin N., Aulchenko Y.S., Wolfs R.C.W., Hofman A., Rivadeneira F., Oostra B.A., Uitterlinden A.G., Hysi P., Hammond C.J., Lemij H.G., Vingerling J.R., Klaver C.C.W., van Duijn C.M.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Unpaywall 20191101
مصطلحات موضوعية: binding protein, cell cycle protein 7, cyclin dependent kinase inhibitor 2B, protein Atoh7, transcription factor Six1, unclassified drug, article, chromosome 10q, chromosome 11q, chromosome 13q, chromosome 14q, chromosome 16q, chromosome 17q, chromosome 1p, chromosome 9p, gene locus, genetic association, genetic variability, human, myopia, Netherlands, open angle glaucoma, optic disk, optic disk cup, adolescent, adult, aged, female, male, meta analysis
Relation: Ramdas W.D., van Koolwijk L.M.E., Ikram M.K., Jansonius N.M., de Jong P.T.V.M., Bergen A.A.B., Isaacs A., Amin N., Aulchenko Y.S., Wolfs R.C.W., Hofman A., Rivadeneira F., Oostra B.A., Uitterlinden A.G., Hysi P., Hammond C.J., Lemij H.G., Vingerling J.R., Klaver C.C.W., van Duijn C.M. (2010). A genome-wide association study of optic disc parameters. PLoS Genetics 6 (6) : 1-Dec. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1000978; https://scholarbank.nus.edu.sg/handle/10635/161663
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8Academic Journal
المؤلفون: Lowery, Aoife J, Miller, Nicola, Devaney, Amanda, McNeill, Roisin E, Davoren, Pamela A, Lemetre, Christophe, Benes, Vladimir, Schmidt, Sabine, Blake, Jonathon, Ball, Graham, Kerin, Michael J
مصطلحات موضوعية: artificial neural-networks, resistance-protein, mass-spectrometry, tumor invasion, chromosome 14q, messenger-rna, bewo cells, expression, gene, classification
Relation: Breast Cancer Research; Lowery, Aoife J; Miller, Nicola; Devaney, Amanda; McNeill, Roisin E; Davoren, Pamela A; Lemetre, Christophe; Benes, Vladimir; Schmidt, Sabine; Blake, Jonathon; Ball, Graham; Kerin, Michael J (2009). Microrna signatures predict oestrogen receptor, progesterone receptor and her2/neureceptor status in breast cancer. Breast Cancer Research 11 (3); http://hdl.handle.net/10379/12508
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9
المؤلفون: Alimov, Andrei
المساهمون: Karolinska Institutet, Department of Oncology-Pathology, Publisher, Karolinska Institutet, Institutionen för onkologi-patologi, Publisher
مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Kidney tumor, RCC, LOH, CGH, SKY, PTEN, chromosome 3p, chromosome 10q, chromosome 14q
وصف الملف: electronic
URL الوصول: http://hdl.handle.net/10616/42994
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10Academic Journal
المؤلفون: A. A. Zeitlin, J. A. Franklyn, J. M. Heward, O. J. Brand, P. R. Newby, S. C. L. Gough, Matthew Simmonds
مصطلحات موضوعية: C420 - Human genetics, Adolescent, Adult, Age of Onset, article, autoimmune disease, case control study, Case-Control Studies, Caucasian, Child, Chi-Square Distribution, chromosome 14q, controlled study, disease association, DNA polymorphism, ethnology, Exons, female, gene, Gene Frequency, gene locus, gene mapping, genetic association, genetic linkage, Genetic Predisposition to Disease, genetic screening, genetic susceptibility, genotype, Graves disease, Haplotypes
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11
المؤلفون: Sanda Huljev Frković, Ivana Tonkovic Durisevic, Kristina Crkvenac Gornik, Anita Pokupec Bilic
المصدر: Molecular and Experimental Biology in Medicine
Volume 2
Issue 1مصطلحات موضوعية: Genetics, chromosome 14q interstitial deletion, array CGH, developmental delay, Breakpoint, Ring chromosome, Etiology, Chromosome, Chromosomal translocation, Karyotype, Case presentation, Biology, Phenotype
وصف الملف: application/pdf
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12
المؤلفون: Duicu Carmen, Rac Corina Dana, Boglis Alina, Moldovan Elena, Bănescu Claudia
المصدر: Acta Medica Marisiensis, Vol 62, Iss 3, Pp 378-380 (2016)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, integumentary system, business.industry, Chromosomal disorder, 030105 genetics & heredity, eye diseases, chromosome 14q, corpus callosum, 03 medical and health sciences, otorhinolaryngologic diseases, Medicine, Deletion syndrome, General Pharmacology, Toxicology and Pharmaceutics, business, General Dentistry, interstitial deletion
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13
المؤلفون: Nikolajs Sjakste, N. Paramonova, Tatjana Sjakste, J. Kalnina
المصدر: Biopolymers and Cell, Vol 30, Iss 4, Pp 305-309 (2014)
مصطلحات موضوعية: QH301-705.5, PSMB5, Single-nucleotide polymorphism, Disease, QH426-470, PSMA3, multiple sclerosis, General Biochemistry, Genetics and Molecular Biology, Genetic variation, medicine, Genetics, Biology (General), Gene, Transcription factor, business.industry, Multiple sclerosis, medicine.disease, chromosome 14q, Biomedicine, Immunology, proteasomal genes, business, SNPs
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14
المؤلفون: Sakari Knuutila, Claudio Ghimenton, Guido Martignoni, Luca Cima, Giampaolo Tortora, Francesco Massari, Emilio Bria, Davide Bimbatti, Francesca La Russa, Liang Cheng, Camillo Porta, Albino Eccher, Matteo Brunelli, Serena Pedron, Teodoro Sava, Antonio Benito Porcaro, Chiara Ciccarese, Alessandra Modena, Walter Artibani
المصدر: Applied immunohistochemistrymolecular morphology : AIMM. 25(1)
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Histology, medicine.medical_treatment, Pathology and Forensic Medicine, Targeted therapy, clear-cell renal carcinoma, intratumoral heterogeneity, FISH, chromosome 9p, chromosome 14q, targeted therapy, 03 medical and health sciences, 0302 clinical medicine, FISH, Renal cell carcinoma, Internal medicine, medicine, Carcinoma, Humans, chromosome 9p, Neoplasm Metastasis, Carcinoma, Renal Cell, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 14, medicine.diagnostic_test, business.industry, Chromosome, Cancer, medicine.disease, targeted therapy, Primary tumor, chromosome 14q, Kidney Neoplasms, Medical Laboratory Technology, Clear cell renal cell carcinoma, 030104 developmental biology, 030220 oncology & carcinogenesis, intratumoral heterogeneity, business, clear-cell renal carcinoma, Chromosomes, Human, Pair 9, Fluorescence in situ hybridization
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15Academic Journal
المؤلفون: Massari, Francesco, Ciccarese, Chiara, Bria, Emilio, Porta, Camillo, LA RUSSA, Francesca, Knuutila, Sakari, ARTIBANI, Walter, PORCARO, Antonio Benito, BIMBATTI, Davide, Modena, Alessandra, Sava, Teodoro, TORTORA, GIAMPAOLO, Cheng, Liang, ECCHER, Albino, CIMA, Luca, PEDRON, Serena, Ghimenton, Claudio, MARTIGNONI, Guido, BRUNELLI, Matteo
المساهمون: Massari, Francesco, Ciccarese, Chiara, Bria, Emilio, Porta, Camillo, LA RUSSA, Francesca, Knuutila, Sakari, Artibani, Walter, Porcaro, Antonio Benito, Bimbatti, Davide, Modena, Alessandra, Sava, Teodoro, Tortora, Giampaolo, Cheng, Liang, Eccher, Albino, Cima, Luca, Pedron, Serena, Ghimenton, Claudio, Martignoni, Guido, Brunelli, Matteo
مصطلحات موضوعية: clear-cell renal carcinoma, intratumoral heterogeneity, FISH, chromosome 9p, chromosome 14q, targeted therapy
Relation: info:eu-repo/semantics/altIdentifier/pmid/26509904; info:eu-repo/semantics/altIdentifier/wos/WOS:000390693200009; volume:25; issue:1; firstpage:39; lastpage:43; numberofpages:5; journal:APPLIED IMMUNOHISTOCHEMISTRY AND MOLECULAR MORPHOLOGY; http://hdl.handle.net/11562/929199; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84945559356
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16
المؤلفون: Michela Malacarne, Marina Grasso, Mauro Pierluigi, Giovanni Corsello, V. Consiglio, Gregorio Serra, Antonella Di Fiore, Maria Piccione, Chiara Viaggi, Simona Cavani
المساهمون: Piccione, M, Serra, G, Consiglio, V, Di Fiore, A, Cavani, S, Grasso, M, Malacarne, M, Pierluigi, M, Viaggi, C, Corsello, G
المصدر: American Journal of Medical Genetics Part A. :1427-1433
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Adolescent, ID/MCA deletion syndrome, Locus (genetics), Microphthalmia, microform, Settore MED/38 - Pediatria Generale E Specialistica, Holoprosencephaly, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Microphthalmos, chromosome 14q deletion, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Deletion, Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, Coloboma, biology, business.industry, NPAS3, Facies, medicine.disease, eye diseases, Developmental disorder, Phenotype, holoprosencephaly, Settore MED/03 - Genetica Medica, Genetic Loci, array-CGH, biology.protein, business
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17Academic Journal
المؤلفون: Miyamoto, Kanji, Miyano, Keiko, Miyoshi, Isao, Hamasaki, Kazuhide, Nishihara, Ryuji, Terao, Seiya, Kimura, Ikuro, Maeda, Kenichiro, Matsumura, Kazuyoshi, Mishijima, Katsumi, Tanaka, Toshio
المصدر: Acta Medica Okayama
مصطلحات موضوعية: non-African Burkitt's lymphoma, chromosome 14q+
Relation: info:pmid/6446841; https://ousar.lib.okayama-u.ac.jp/files/public/3/30566/20160528022622695366/fulltext.pdf; AA00508441; https://ousar.lib.okayama-u.ac.jp/30566
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18
المؤلفون: Gulseren Bagci, Gokhan Ozan Cetin, Nur Semerci, Gokce Altay Toruner, Mine Cinbiş
مصطلحات موضوعية: Male, congenital heart malformation, gait disorder, Chromosomal translocation, cytogenetics, Translocation, Genetic, corpus callosum, flatfoot, palpebral fissure, low set ear, Gene duplication, ptosis, Medicine, microcephaly, nuclear magnetic resonance imaging, In Situ Hybridization, Fluorescence, Genetics (clinical), hirsutism, Sequence Deletion, Genetics, neuroimaging, medicine.diagnostic_test, hypertelorism, article, Karyotype, General Medicine, intrauterine growth retardation, C banding, priority journal, Child, Preschool, Cytogenetic Analysis, chromosome breakage, head circumference, body height, chromosome Yp, Chromosome Deletion, Anatomy, Chromosome breakage, micrognathia, medicine.medical_specialty, nose malformation, anteverted nostril, Heterochromatin, face dysmorphia, growth retardation, eye malformation, agenesis, hernia, Pathology and Forensic Medicine, body weight, mental deficiency, case report, chromosome Xp, Humans, Abnormalities, Multiple, human, fluorescence in situ hybridization, hypoplasia, long philtrum, Chromosome Aberrations, Chromosomes, Human, Pair 14, muscle hypotonia, gene deletion, Abnormalities, Multiple/genetics, Chromosomes, Human, Pair 14/genetics, Karyotyping, Sequence Deletion/*genetics, Translocation, Genetic/*genetics, business.industry, DNA microarray, gene duplication, heterochromatin, Cytogenetics, birth weight, Chromosome, hearing impairment, chromosome 14q, strabismus, blepharophimosis, karyotype, Pediatrics, Perinatology and Child Health, palate malformation, business, chromosome translocation, Fluorescence in situ hybridization
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19
المؤلفون: Graham Ball, Jonathon Blake, Amanda Devaney, Aoife Lowery, Christophe Lemetre, Vladimir Benes, Sabine Schmidt, Roisin E McNeill, Nicola Miller, Pamela A Davoren, Michael J. Kerin
المساهمون: National Breast Cancer Research Institute, John and Lucile Van Geest foundation
المصدر: Breast Cancer Research : BCR
مصطلحات موضوعية: Adult, bewo cells, Receptor Status, Pathology, medicine.medical_specialty, Receptor, ErbB-2, Breast Neoplasms, HER2/neu, Breast cancer, breast cancer, Surgical oncology, Progesterone receptor, microRNA, expression, medicine, Humans, resistance-protein, skin and connective tissue diseases, gene, Aged, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Aged, 80 and over, Medicine(all), biology, Gene Expression Profiling, Middle Aged, mass-spectrometry, tumor invasion, medicine.disease, chromosome 14q, Gene expression profiling, Gene Expression Regulation, Neoplastic, MicroRNAs, heterogeneous disease, Receptors, Estrogen, messenger-rna, classification, biology.protein, Cancer research, artificial neural-networks, Female, Neural Networks, Computer, Receptors, Progesterone, Algorithms, Research Article
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20Academic Journal
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi ve Çocuk Ürolojisi Anabilim Dalı., orcid:0000-0003-0710-5422, Kılıç, Nizamettin, Balkan, Emin, Sağlam, Halil, Yakut, Tahsin, Doǧruyol, Hasan, AAI-3656-2021, C-7392-2019, 7005266570, 7004109012, 35612700100, 6602802424, 56624750400
مصطلحات موضوعية: Urology & nephrology, Hypospadias, Robertsonian translocation, Amniocentesis, Carriers, Rearrangements, Rates, Child, preschool, Chromosome aberrations, Genetic diseases, inborn, Genetic predisposition to disease, Humans, Male, Translocation, genetic, Treatment outcome, Urogenital abnormalities, Urologic surgical procedures, Robertsonian Chromosome Translocation, Preimplantation Genetic Diagnosis, Article, Case report, Chromosome 13q, Chromosome 14q, Chromosome aberration, Clinical feature, Human, Karyotype
Relation: Makale - Uluslararası Hakemli Dergi; Urologia Internationalis; Kılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376.; https://doi.org/10.1159/000084443; https://www.karger.com/Article/Abstract/84443; http://hdl.handle.net/11452/24817; 000229031300019; 2-s2.0-20844442126; 373; 376; 74
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