المؤلفون: Moriya Iwaizumi, Terumi Taniguchi, Risa Kojima, Harumo Osawa, Kyota Tatsuta, Mayu Sakata, Satoshi Osawa, Kiyotaka Kurachi, Ken Sugimoto

المصدر: Hereditary Cancer in Clinical Practice, Vol 23, Iss 1, Pp 1-6 (2025)

مصطلحات موضوعية: Familial adenomatous polyposis, Intellectual disability, Whole APC deletion, De novo mutation, APC gene, Chromosome 5q deletion, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1897-4287

URL الوصول: https://doaj.org/article/93cffd56f7104a759f3ef953f90afa40

المؤلفون: McClellan, Jon, Zoghbi, Anthony, Buxbaum, Joseph, Cappi, Carolina, Crowley, James, Flint, Jonathan Frederic Rest, Grice, Dorothy, Gulsuner, Suleyman, Iyegbe, Conrad, Jain, Sanjeev, Kuo, Po-Hsiu, Lattig, Maria, Passos-Bueno, Maria, Purushottam, Meera, Stein, Dan, Sunshine, Anna, Susser, Ezra, Walsh, Christopher, Wootton, Olivia, King, Mary-Claire

المصدر: Neuron. 112(1)

مصطلحات موضوعية: 22q11 deletion, OCD, assortative mating, autism, bipolar disorder, causality, clinical heterogeneity, complex neuropsychiatric disease, consanguinity, de novo mutation, evolution, genetic drift, genetics, genomics, migration, polygenic inheritance, rare alleles, schizophrenia, selection, somatic mutation, Humans, Mutation, Mental Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/56t5h6n2
https://escholarship.org/content/qt56t5h6n2/qt56t5h6n2.pdf

المؤلفون: Huiling Zheng, Lin Zheng, Zhi Huang, Guangping Li, Daili Tang, Xue Yang, Tian Tian

المصدر: Clinical Case Reports, Vol 12, Iss 12, Pp n/a-n/a (2024)

مصطلحات موضوعية: 17q duplication, copy number variation, de novo mutation, karyotype, mosaicism, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/2e0c2b0fb31d4660a07a88df670e1f31

المؤلفون: Chow, Julie C, Hormozdiari, Fereydoun

المصدر: Journal of Autism and Developmental Disorders. 53(3)

مصطلحات موضوعية: Education, Health Sciences, Psychology, Neurosciences, Genetics, Aetiology, 2.1 Biological and endogenous factors, Humans, Mutation, Autism Spectrum Disorder, Neurodevelopmental Disorders, Phenotype, De novo mutation, Early prediction, Neural network, Likely gene-disruptive, Missense, Psychology and Cognitive Sciences, Developmental & Child Psychology, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/12w832p5
https://escholarship.org/content/qt12w832p5/qt12w832p5.pdf

المؤلفون: Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: kabuki syndrome, congenital heart disease, KMT2D gene, de novo mutation, hyperinsulinemic hypoglycemia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e41868044f784da591857de10bf146e5

المؤلفون: Christopher J. Yoon, Chang Hyun Nam, Taewoo Kim, Jeong Seok Lee, Ryul Kim, Kijong Yi, June-Young Koh, Jiye Kim, Hyein Won, Ji Won Oh, Obi L. Griffith, Malachi Griffith, Joohon Sung, Tae Yeul Kim, Duck Cho, Ji Seon Choi, Young Seok Ju

المصدر: HGG Advances, Vol 5, Iss 3, Pp 100301- (2024)

مصطلحات موضوعية: monochorionic dizygotic twins, chimera, single-cell sequencing, lineage tracing, de novo mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266624772400040X; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/f1dbbd925688474a9c7d70779040690e

المؤلفون: Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu

المصدر: Hereditas, Vol 161, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Albinism, OCA2 gene, De novo mutation, Compound heterozygous mutations, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1601-5223

URL الوصول: https://doaj.org/article/60803439f179428a9d9b0b4b7fb3c576

المؤلفون: Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano, Lisa Ximena Rodríguez-Rojas

المصدر: Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Li Fraumeni syndrome, TP53, P53, De novo mutation, Advanced paternal age, Severe phenotype, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1897-4287

URL الوصول: https://doaj.org/article/1c1278b982704453a5ccf68ffae3a829

المؤلفون: Zhang, Hongkai, Lundberg, Max, Tarka, Maja, Hasselquist, Dennis, Hansson, Bengt

المصدر: Genome Biology and Evolution. 15(11)

مصطلحات موضوعية: bird, CpG sites, de novo mutation, demographic history, sex bias, Naturvetenskap, Biologi, Evolutionsbiologi, Natural Sciences, Biological Sciences, Evolutionary Biology

URL الوصول: https://lup.lub.lu.se/record/6dc6ce85-519e-4c2a-845c-a898fc375dec
http://dx.doi.org/10.1093/gbe/evad180

المؤلفون: Breuss, Martin W, Yang, Xiaoxu, Stanley, Valentina, McEvoy-Venneri, Jennifer, Xu, Xin, Morales, Arlene J, Gleeson, Joseph G

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Reproductive Medicine, Pediatric, Human Genome, Contraception/Reproduction, Clinical Research, Good Health and Well Being, Child, Cohort Studies, Humans, Male, Mosaicism, Semen, Software, Spermatozoa, sperm, mosaicism, de novo mutation, blastocyst, IVF, Human, genetics, genomics, human, medicine, Biochemistry and Cell Biology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/509648zn
https://escholarship.org/content/qt509648zn/qt509648zn.pdf

المؤلفون: Patton, Austin H, Richards, Emilie J, Gould, Katelyn J, Buie, Logan K, Martin, Christopher H

مصطلحات موضوعية: Biological Sciences, Ecology, Evolutionary Biology, Genetics, Animals, Ecosystem, Genetic Fitness, Genetic Speciation, Genotype, Hybridization, Genetic, Killifishes, Cyprinodon, fitness landscape, genotypic fitness network, adaptive radiation, introgression, de novo mutation, Other, evolutionary biology, genetics, genomics, Biochemistry and Cell Biology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2zb073d6

المؤلفون: Bernard, Emilien, Cluse, Florent, Bohic, Adrien, Hermier, Marc, Raoul, Cédric, Leblanc, Pascal, Guissart, Claire

المساهمون: Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1422-0067.

مصطلحات موضوعية: amyotrophic lateral sclerosis genome sequencing KIF1A de novo mutation, amyotrophic lateral sclerosis, genome sequencing, KIF1A, de novo mutation, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04767138
https://hal.science/hal-04767138v1/document
https://hal.science/hal-04767138v1/file/Int%20J%20Mol%20Sci%202024.pdf
https://doi.org/10.3390/ijms25158170

المؤلفون: Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Parental mosaicism, Gonadal mosaicism, Gonosomal mosaicism, De novo mutation, Recurrence risk, Droplet digital PCR, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/ac8c484edeef4b69839a418b96ebad40

المؤلفون: Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen, Shanling Liu

المصدر: BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Long read sequencing, SNP haplotype, PGT-M, ADPKD, De novo mutation, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/1815035dc77944bdb97c87e064efe7a1

المؤلفون: Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii‬, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M. E. Albagha

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: autism spectrum disorder (ASD), neurodevelopmental disorders, epilepsy, next-generation sequencing (NGS), copy number variation (CNV), de novo mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1363849/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1cb66fb1f0d64cfb9ab254e423381745

المؤلفون: Yu Liang, Sijie He, Liuqiao Yang, Tao Li, Lijian Zhao, Cong‐xin Sun

المصدر: Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: CHARGE syndrome, CHD7, De novo mutation, ear abnormalities, ultrasound and prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/b24a16ae24b245548839d4404c95a863

المؤلفون: Yang, Xiaoxu, Breuss, Martin W, Xu, Xin, Antaki, Danny, James, Kiely N, Stanley, Valentina, Ball, Laurel L, George, Renee D, Wirth, Sara A, Cao, Beibei, Nguyen, An, McEvoy-Venneri, Jennifer, Chai, Guoliang, Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Sebat, Jonathan, Gleeson, Joseph G

المصدر: Cell. 184(18)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Women's Health, Human Genome, Health Disparities, Biotechnology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Generic health relevance, Adolescent, Aging, Alleles, Clone Cells, Cohort Studies, Growth and Development, Humans, Male, Models, Biological, Mosaicism, Mutation, Risk Factors, Spermatozoa, Time Factors, Young Adult, autism spectrum disorder, clonal mosaicism, congenital disorders, de novo mutation, embryogenesis, mutational signature, somatic, sperm, transmission risk, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/32m300jj
https://escholarship.org/content/qt32m300jj/qt32m300jj.pdf

المؤلفون: Williams, Jonathan

المساهمون: Smith, Miriam

مصطلحات موضوعية: De Novo Mutation, Reproductive Genetic Counselling, Parental Mosaicism

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.885997

المؤلفون: Belyeu, Jonathan R, Brand, Harrison, Wang, Harold, Zhao, Xuefang, Pedersen, Brent S, Feusier, Julie, Gupta, Meenal, Nicholas, Thomas J, Brown, Joseph, Baird, Lisa, Devlin, Bernie, Sanders, Stephan J, Jorde, Lynn B, Talkowski, Michael E, Quinlan, Aaron R

المصدر: American Journal of Human Genetics. 108(4)

مصطلحات موضوعية: Genetics, Biotechnology, Human Genome, Pediatric, Contraception/Reproduction, Brain Disorders, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Aging, Autistic Disorder, Bias, DNA Copy Number Variations, DNA Mutational Analysis, Family, Female, Genome, Human, Germ Cells, Germ-Line Mutation, Humans, Male, Mutation Rate, Paternal Age, Point Mutation, autism, copy number variation, de novo mutation, genetic diversity, genomic structure, genomics, germline mutation, structural variation, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7xn3t8vv

المؤلفون: Wood, Katherine A, Tong, R Spencer, Motta, Marialetizia, Cordeddu, Viviana, Scimone, Eleanor R, Bush, Stephen J, Maxwell, Dale W, Giannoulatou, Eleni, Caputo, Viviana, Traversa, Alice, Mancini, Cecilia, Ferrero, Giovanni Battista, Benedicenti, Francesco, Grammatico, Paola, Melis, Daniela, Steindl, Katharina, Brunetti-Pierri, Nicola, Trevisson, Eva, Wilkie, Andrew OM, Lin, Angela E, Cormier-Daire, Valérie, Twigg, Stephen RF, Tartaglia, Marco, Goriely, Anne

المصدر: Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni Battista; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew OM; Lin, Angela E; Cormier-Daire, Valérie; Twigg, Stephen RF; Tartaglia, Marco; Goriely, Anne (2024). SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. American Journal of Human Genetics, 111(9):1953-1969.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), spermatogonial stem cell, paternal age effect, selfish selection, rare disorder, de novo mutation, TGF-β/BMP/activin pathway

وصف الملف: application/pdf; other

Relation: https://www.zora.uzh.ch/id/eprint/261757/1/1_s2.0_S0002929724002507_main.pdf; https://www.zora.uzh.ch/id/eprint/261757/2/1_s2.0_S0002929724002507_mmc1.pdf; https://www.zora.uzh.ch/id/eprint/261757/3/1_s2.0_S0002929724002507_mmc2.xlsx; https://www.zora.uzh.ch/id/eprint/261757/4/1_s2.0_S0002929724002507_mmc3.pdf; info:pmid/39116879; urn:issn:0002-9297

الاتاحة: https://www.zora.uzh.ch/id/eprint/261757/
https://www.zora.uzh.ch/id/eprint/261757/1/1_s2.0_S0002929724002507_main.pdf
https://www.zora.uzh.ch/id/eprint/261757/2/1_s2.0_S0002929724002507_mmc1.pdf
https://www.zora.uzh.ch/id/eprint/261757/3/1_s2.0_S0002929724002507_mmc2.xlsx
https://www.zora.uzh.ch/id/eprint/261757/4/1_s2.0_S0002929724002507_mmc3.pdf
https://doi.org/10.1016/j.ajhg.2024.07.006