Zeitschriftenartikel zum Thema „Causative variants“
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Pareja, Fresia, Ryan N. Ptashkin, David N. Brown, Fatemeh Derakhshan, Pier Selenica, Edaise M. da Silva, Andrea M. Gazzo et al. „Cancer-Causative Mutations Occurring in Early Embryogenesis“. Cancer Discovery 12, Nr. 4 (23.12.2021): 949–57. http://dx.doi.org/10.1158/2159-8290.cd-21-1110.
Der volle Inhalt der QuelleShakil, Muhammad, Abida Akbar, Nazish Mahmood Aisha, Intzar Hussain, Muhammad Ikram Ullah, Muhammad Atif, Haiba Kaul et al. „Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families“. Genes 13, Nr. 3 (12.03.2022): 503. http://dx.doi.org/10.3390/genes13030503.
Der volle Inhalt der QuelleThanikachalam, Saradadevi, Elizabeth Hodapp, Ta C. Chang, Dayna Morel Swols, Filiz B. Cengiz, Shengru Guo, Mohammad F. Zafeer et al. „Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida“. Genes 11, Nr. 4 (26.03.2020): 350. http://dx.doi.org/10.3390/genes11040350.
Der volle Inhalt der QuelleBengani, Hemant, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R. Louros, Jilly Hope, Adam Jackson et al. „Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability“. PLOS ONE 16, Nr. 8 (13.08.2021): e0256181. http://dx.doi.org/10.1371/journal.pone.0256181.
Der volle Inhalt der QuelleWuyun, Saina. „Causative alternation in Zuo Tradition“. Language and Linguistics / 語言暨語言學 25, Nr. 1 (02.01.2024): 123–61. http://dx.doi.org/10.1075/lali.00151.wuy.
Der volle Inhalt der QuelleDi Taranto, Maria Donata, und Giuliana Fortunato. „Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis“. International Journal of Molecular Sciences 24, Nr. 4 (06.02.2023): 3224. http://dx.doi.org/10.3390/ijms24043224.
Der volle Inhalt der QuelleThongnak, Chuphong, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert und Chonlaphat Sukasem. „Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder“. International Journal of Genomics 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/8231547.
Der volle Inhalt der QuelleMoyon, Lambert, Camille Berthelot, Alexandra Louis, Nga Thi Thuy Nguyen und Hugues Roest Crollius. „Classification of non-coding variants with high pathogenic impact“. PLOS Genetics 18, Nr. 4 (29.04.2022): e1010191. http://dx.doi.org/10.1371/journal.pgen.1010191.
Der volle Inhalt der QuelleThomas, Laurent F., Takaya Saito und Pål Sætrom. „Inferring causative variants in microRNA target sites“. Nucleic Acids Research 39, Nr. 16 (21.06.2011): e109-e109. http://dx.doi.org/10.1093/nar/gkr414.
Der volle Inhalt der QuelleBoudellioua, Imane, Rozaimi B. Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B. Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V. Gkoutos, Paul N. Schofield und Robert Hoehndorf. „Semantic prioritization of novel causative genomic variants“. PLOS Computational Biology 13, Nr. 4 (17.04.2017): e1005500. http://dx.doi.org/10.1371/journal.pcbi.1005500.
Der volle Inhalt der QuelleAbdelkader, Ehab, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty und Patrik Schatz. „Novel causative variants in patients with achromatopsia“. Ophthalmic Genetics 39, Nr. 6 (05.10.2018): 678–83. http://dx.doi.org/10.1080/13816810.2018.1522653.
Der volle Inhalt der QuelleMonasky, Michelle M., Emanuele Micaglio, Giuseppe Ciconte und Carlo Pappone. „Brugada Syndrome: Oligogenic or Mendelian Disease?“ International Journal of Molecular Sciences 21, Nr. 5 (01.03.2020): 1687. http://dx.doi.org/10.3390/ijms21051687.
Der volle Inhalt der QuelleShchagina, Olga, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov und Elena Dadali. „Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy“. International Journal of Molecular Sciences 24, Nr. 12 (06.06.2023): 9786. http://dx.doi.org/10.3390/ijms24129786.
Der volle Inhalt der QuelleMyasnikov, Roman P., Olga V. Kulikova, Alexey N. Meshkov, Anna A. Bukaeva, Anna V. Kiseleva, Alexandra I. Ershova, Anna V. Petukhova et al. „A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy“. Genes 13, Nr. 10 (28.09.2022): 1750. http://dx.doi.org/10.3390/genes13101750.
Der volle Inhalt der QuelleBiswas, Pooja, Adda L. Villanueva, Angel Soto-Hermida, Jacque L. Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov et al. „Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis“. PLOS Genetics 17, Nr. 10 (18.10.2021): e1009848. http://dx.doi.org/10.1371/journal.pgen.1009848.
Der volle Inhalt der QuelleLourenco, Daniela, Shogo Tsuruta, Sungbong Jang, Breno O. Fragomeni und Ignacy Misztal. „41 Using Sequence Data to Increase Accuracy of Genomic Predictions in Livestock: Are We There Yet?“ Journal of Animal Science 99, Supplement_3 (08.10.2021): 22–23. http://dx.doi.org/10.1093/jas/skab235.037.
Der volle Inhalt der QuelleAkouchekian, Mansoureh, Mitra Hakim Shooshtari, Hamed Heidary, Fateme Zahedi Abghari und Parisa Moeinian. „The causative variants of amyloidosis in the autism“. International Journal of Neuroscience 129, Nr. 1 (05.11.2018): 10–15. http://dx.doi.org/10.1080/00207454.2018.1503177.
Der volle Inhalt der QuelleMatczyńska, Ewa, Robert Szymańczak, Katarzyna Stradomska, Przemysław Łyszkiewicz, Maria Jędrzejowska, Karolina Kamińska, Marta Beć-Gajowniczek et al. „Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population“. Genes 15, Nr. 8 (01.08.2024): 1011. http://dx.doi.org/10.3390/genes15081011.
Der volle Inhalt der QuelleLetko, Anna, Fabienne Leuthard, Vidhya Jagannathan, Daniele Corlazzoli, Kaspar Matiasek, Daniela Schweizer, Marjo K. Hytönen, Hannes Lohi, Tosso Leeb und Cord Drögemüller. „Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs“. Genes 11, Nr. 2 (04.02.2020): 163. http://dx.doi.org/10.3390/genes11020163.
Der volle Inhalt der QuelleMajeres, Leif E., Anna C. Dilger, Daniel W. Shike, Joshua C. McCann und Jonathan E. Beever. „Defining a Haplotype Encompassing the LCORL-NCAPG Locus Associated with Increased Lean Growth in Beef Cattle“. Genes 15, Nr. 5 (30.04.2024): 576. http://dx.doi.org/10.3390/genes15050576.
Der volle Inhalt der QuelleNiitsuma, Sou, Hiroki Kudo, Atsuo Kikuchi, Takaya Hayashi, Satoshi Kumakura, Shuhei Kobayashi, Yuko Okuyama et al. „Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome“. International Immunology 32, Nr. 4 (24.12.2019): 283–92. http://dx.doi.org/10.1093/intimm/dxz081.
Der volle Inhalt der QuelleBernal Barquero, Carlos Eduardo, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú et al. „Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect“. International Journal of Molecular Sciences 23, Nr. 16 (17.08.2022): 9251. http://dx.doi.org/10.3390/ijms23169251.
Der volle Inhalt der QuelleChan, Jacqueline, Jolyon Holdstock, John Shovelton, James Reid, Graham Speight, Duarte Molha, Venu Pullabhatla et al. „Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies“. PLOS ONE 19, Nr. 6 (13.06.2024): e0305422. http://dx.doi.org/10.1371/journal.pone.0305422.
Der volle Inhalt der QuelleAbu-Rub, Lubna I., Tara Al-Barazenji, Sumaya Abiib, Ayat S. Hammad, Alaa Abbas, Khalid Hussain und Mashael Al-Shafai. „Identification of KSR2 Variants in Pediatric Patients with Severe Early-Onset Obesity from Qatar“. Genes 15, Nr. 8 (23.07.2024): 966. http://dx.doi.org/10.3390/genes15080966.
Der volle Inhalt der QuelleRasia, Maria Eugenia Mangialavori. „Stativity in the Causative Alternation? New Questions and a New Variant“. Open Linguistics 5, Nr. 1 (31.12.2019): 233–59. http://dx.doi.org/10.1515/opli-2019-0014.
Der volle Inhalt der QuelleTakao, Akinari, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Hideki Ishikawa, Kiwamu Akagi und Hideyuki Ishida. „Genetic testing of Japanese patients with serrated polyposis syndrome: A multicentric study.“ Journal of Clinical Oncology 42, Nr. 3_suppl (20.01.2024): 75. http://dx.doi.org/10.1200/jco.2024.42.3_suppl.75.
Der volle Inhalt der QuelleSiutkina, Nadezhda P., und Svetlana V. Shustova. „COGNITIVE SCENARIO OF CAUSATIVE VERB "REIZEN" IN THE GERMAN LANGUAGE: ON THE ISSUE OF SEMANTIC POTENTIAL EXPANSION“. Theoretical and Applied Linguistics, Nr. 1 (2018): 84–91. http://dx.doi.org/10.22250/2410-7190_2018_4_1_84_91.
Der volle Inhalt der QuelleNaruse, Hiroya, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi et al. „Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS“. Journal of Neurology, Neurosurgery & Psychiatry 90, Nr. 5 (24.10.2018): 537–42. http://dx.doi.org/10.1136/jnnp-2018-318568.
Der volle Inhalt der QuelleSavelyev, V. N., I. V. Savelyeva, B. V. Babenyshev und A. N. Kulichenko. „The evolution of the pathogen and the clinical and epidemiological features of the recent cholera (el tor)“. Epidemiology and Infectious Diseases 17, Nr. 5 (15.10.2012): 31–35. http://dx.doi.org/10.17816/eid40707.
Der volle Inhalt der QuelleZhang, Lujia, Ya Li, Litao Qin, Yu Wu und Bo Lei. „Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population“. Genes 12, Nr. 4 (07.04.2021): 537. http://dx.doi.org/10.3390/genes12040537.
Der volle Inhalt der QuelleAlesi, Viola, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso et al. „Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis“. International Journal of Molecular Sciences 22, Nr. 2 (13.01.2021): 750. http://dx.doi.org/10.3390/ijms22020750.
Der volle Inhalt der QuelleSchlingmann, Karl P., François Jouret, Kuang Shen, Anukrati Nigam, Francisco J. Arjona, Claudia Dafinger, Pascal Houillier et al. „mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy“. Journal of the American Society of Nephrology 32, Nr. 11 (04.10.2021): 2885–99. http://dx.doi.org/10.1681/asn.2021030333.
Der volle Inhalt der QuelleSuzuki, Yasuo, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito und Kaoru Dohi. „Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients“. Genes 14, Nr. 2 (09.02.2023): 443. http://dx.doi.org/10.3390/genes14020443.
Der volle Inhalt der QuelleKOCAAĞA, Ayça, und Hatice Mine ÇAKMAK. „Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience“. Medical Journal of Western Black Sea 6, Nr. 3 (27.12.2022): 296–301. http://dx.doi.org/10.29058/mjwbs.1200958.
Der volle Inhalt der QuelleFragomeni, B. D., D. A. L. Lourenco, Y. Masuda, A. Legarra und I. Misztal. „193 Including causative variants into single step genomic BLUP“. Journal of Animal Science 95, suppl_4 (01.08.2017): 95–96. http://dx.doi.org/10.2527/asasann.2017.193.
Der volle Inhalt der QuelleWozniak, G., Y. Shen, A. Rubin, P. Neela und P. Khavari. „397 Uncovering causative, noncoding genetic variants in cutaneous diseases“. Journal of Investigative Dermatology 139, Nr. 5 (Mai 2019): S68. http://dx.doi.org/10.1016/j.jid.2019.03.473.
Der volle Inhalt der QuelleXrakovskij, Viktor S., und Ramazan G. Mamedshakhov. „Causative construction and its variants in Modern Standard Arabic“. Orientalistica 7, Nr. 1 (2024): 226–40. http://dx.doi.org/10.31696/2618-7043-2024-7-1-226-240.
Der volle Inhalt der QuelleGuo, Jing, Owen J. L. Rackham, Niina Sandholm, Bing He, Anne-May Österholm, Erkka Valo, Valma Harjutsalo et al. „Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy“. Journal of the American Society of Nephrology 31, Nr. 2 (09.01.2020): 309–23. http://dx.doi.org/10.1681/asn.2019030289.
Der volle Inhalt der QuelleDianat, Tahereh, Dor Mohammad Kordi Tamandani, Maryam Najafi und Ali Khajeh. „Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia“. Disease and Diagnosis 11, Nr. 4 (01.10.2022): 142–46. http://dx.doi.org/10.34172/ddj.2022.27.
Der volle Inhalt der QuelleMajeres, Leif E., Anna C. Dilger, Daniel W. Shike, Joshua C. McCann und Jon E. Beever. „PSV-8 Investigation of a haplotype and eQTL analysis of the LCORL-NCAPG locus associated with increased lean growth in beef cattle“. Journal of Animal Science 102, Supplement_3 (01.09.2024): 512. http://dx.doi.org/10.1093/jas/skae234.580.
Der volle Inhalt der QuelleArakawa, Hiroshi. „The Natural Evolution of RNA Viruses Provides Important Clues about the Origin of SARS-CoV-2 Variants“. SynBio 2, Nr. 3 (16.08.2024): 285–97. http://dx.doi.org/10.3390/synbio2030017.
Der volle Inhalt der QuelleJohnsson, Martin, und Melissa K. Jungnickel. „Evidence for and localization of proposed causative variants in cattle and pig genomes“. Genetics Selection Evolution 53, Nr. 1 (30.08.2021). http://dx.doi.org/10.1186/s12711-021-00662-x.
Der volle Inhalt der QuelleInoue, Michio, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino und Satoru Noguchi. „Causative variant profile of collagen VI-related dystrophy in Japan“. Orphanet Journal of Rare Diseases 16, Nr. 1 (24.06.2021). http://dx.doi.org/10.1186/s13023-021-01921-2.
Der volle Inhalt der QuelleBrabbing‐Goldstein, Dana, Lily Bazak, Noa Ruhrman‐Shahar, Gabriel Arie Lidzbarsky, Naama Orenstein, Marina Lifshiz‐Kalis, Nurit Asia‐Batzir, Yael Goldberg und Lina Basel‐Salmon. „Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort“. Prenatal Diagnosis, 05.09.2024. http://dx.doi.org/10.1002/pd.6659.
Der volle Inhalt der QuelleSeo, Yuri, Tae Young Kim, Dongju Won, Saeam Shin, Jong Rak Choi, Seung-Tae Lee, Byung Joo Lee, Hyun Taek Lim, Sueng-Han Han und Jinu Han. „Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy“. Frontiers in Neurology 13 (22.08.2022). http://dx.doi.org/10.3389/fneur.2022.978532.
Der volle Inhalt der QuelleStutterd, Chloe A., Stefanie Brock, Katrien Stouffs, Miriam Fanjul-Fernandez, Paul J. Lockhart, George McGillivray, Simone Mandelstam et al. „Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing“. Brain Communications, 26.12.2020. http://dx.doi.org/10.1093/braincomms/fcaa221.
Der volle Inhalt der QuelleHori, Mika, Atsushi Takahashi, Kiminori Hosoda, Masatsune Ogura und Mariko Harada-Shiba. „A low-frequency APOB p.(Pro955Ser) variant contributes to the severity of/variability in familial hypercholesterolemia“. Journal of Clinical Endocrinology & Metabolism, 03.10.2022. http://dx.doi.org/10.1210/clinem/dgac572.
Der volle Inhalt der QuelleEghbali, Maryam, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee und Mohammad Hossein Modarressi. „Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome“. Frontiers in Genetics 11 (11.01.2021). http://dx.doi.org/10.3389/fgene.2020.601566.
Der volle Inhalt der QuelleShinya, Y., T. Hiraide, M. Kataoka, M. Momoi, S. Goto, Y. Katsumata, J. Endo, M. Sano, K. Kosaki und K. Fukuda. „A novel causative gene variant, TNFRSF13B p.Gly76Ser, in patients with pulmonary arterial hypertension“. European Heart Journal 41, Supplement_2 (01.11.2020). http://dx.doi.org/10.1093/ehjci/ehaa946.2310.
Der volle Inhalt der QuelleToyoda, Yu, Yusuke Kawamura, Akiyoshi Nakayama, Hirofumi Nakaoka, Toshihide Higashino, Seiko Shimizu, Hiroshi Ooyama et al. „Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12“. Rheumatology, 02.04.2021. http://dx.doi.org/10.1093/rheumatology/keab327.
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