المؤلفون: Åsa Kjellgren, Elenor Lundgren, Irina Golovleva, Berit Kriström, Mimmi Werner

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Child, Founder mutation, Pituitary hormone deficiency, CPHD, Sensorineural hearing loss, Balance impairment, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/9cb052f93df5447687389a19eb2ccec4

المؤلفون: Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling Lai

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: TARS2, COXPD21, Chinese-specific, Founder mutation, Mitochondrial encephalomyopathy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8be34e77e1ac4cecbd08e2d7d860c3ed

المؤلفون: Khalid Al‐Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al‐Habsi, Eiman Al‐Ajmi, Fatma Al‐Jasmi, Fathiya Al‐Murshedi

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 226-232 (2024)

مصطلحات موضوعية: CA5A, carbonic anhydrase‐VA, CA‐VA, founder mutation, hyperammonemia, hyperCkemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/276964319bbd44d69ab8f78f98a0174e

المؤلفون: Muhammed Riyas K. Rahmath, Haytham Ibrahim, Muhammad Faiyaz-Ul-Haque, Zafar Nawaz, Ahmad Zitoun, Ahmed Hussein, Ahmed Sadek, Ayman El-Menyar, Reema Kamal, Hassan Al-Thani, Gulab Sher

المصدر: Biomedicines, Vol 13, Iss 1, p 159 (2025)

مصطلحات موضوعية: arterial tortuosity syndrome, SLC2A10, Qatari, founder mutation, mild outcome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/13/1/159; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/aeae6c5bd12f4baba85a208692e3fb4c

المؤلفون: Salma Wahabi Alzahabi, Maher Saifo, Ghalia Abou Alchamat

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Amplification-created restriction site, Breast cancer, BRCA gene, Familial breast cancer, Founder mutation, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/163e0cb362914c58af045d77f5e60b87

المؤلفون: Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Haplotypes, Founder mutation, Common ancestor, Hereditary leiomyomatosis, FH, Renal cell cancer, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/070bf76381b143af84d1c37cc2907316

المؤلفون: Emilia M. Pinto, Cintia Fridman, Bonald C. Figueiredo, Hector Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith A.M. F. Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodriguez-Galindo, Raul C. Ribeiro, Gerard P. Zambetti

المصدر: HGG Advances, Vol 5, Iss 1, Pp 100244- (2024)

مصطلحات موضوعية: R337H, founder mutation, haplotype, ancestry, Iberian Peninsula, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000763; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/02c8af13bfa145bdbadf55670897ec29

المؤلفون: D'Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listi, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, Bertelli, Matteo, Costagliola, Ciro, Cordeiro, Maria Francesca, Maggio, Aurelio, D'Alcamo, Elena

المصدر: Medicina , 60 (2) , Article 254. (2024)

مصطلحات موضوعية: Rod–cone dystrophy, retinitis pigmentosa, RP1 gene, founder effect, inherited retinal dystrophies, founder mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10196418/1/iRP1i%20Dominant%20p.Ser740%20Pathogenic%20Variant%20in%2020%20Knowingly%20Unrelated%20Families%20Affected%20by%20Rod-Cone%20Dystrophy%20Potential%20Found.pdf; https://discovery.ucl.ac.uk/id/eprint/10196418/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10196418/1/iRP1i%20Dominant%20p.Ser740%20Pathogenic%20Variant%20in%2020%20Knowingly%20Unrelated%20Families%20Affected%20by%20Rod-Cone%20Dystrophy%20Potential%20Found.pdf
https://discovery.ucl.ac.uk/id/eprint/10196418/

المؤلفون: Grigoriy A. Yanus, Evgeny N. Suspitsin, Evgeny N. Imyanitov

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 17, p 9335 (2024)

مصطلحات موضوعية: medical genetics, founder effect, founder mutation, inherited disease, germline mutation, Slavs, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/17/9335; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/fc3aacfe338c4fd194a13b9291426c83

الاتاحة: https://doi.org/10.3390/ijms25179335
https://doaj.org/article/fc3aacfe338c4fd194a13b9291426c83

المؤلفون: D'Esposito F., Randazzo V., Vega M. I., Esposito G., Maltese P. E., Torregrossa S., Scibetta P., Listi F., Gagliano C., Scalia L., Pioppo A., Marino A., Piergentili M., Malvone E., Fioretti T., Vitrano A., Piccione M., Avitabile T., Salvatore F., Bertelli M., Costagliola C., Cordeiro M. F., Maggio A., D'Alcamo E.

المساهمون: D'Esposito F., Randazzo V., Vega M.I., Esposito G., Maltese P.E., Torregrossa S., Scibetta P., Listi F., Gagliano C., Scalia L., Pioppo A., Marino A., Piergentili M., Malvone E., Fioretti T., Vitrano A., Piccione M., Avitabile T., Salvatore F., Bertelli M., Costagliola C., Cordeiro M.F., Maggio A., D'Alcamo E.

مصطلحات موضوعية: RP1 gene, founder effect, founder mutation, inherited retinal dystrophies, retinitis pigmentosa, rod–cone dystrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/38399542; info:eu-repo/semantics/altIdentifier/wos/WOS:001175202500001; volume:60; issue:2; numberofpages:11; journal:MEDICINA; https://hdl.handle.net/10447/630653

الاتاحة: https://hdl.handle.net/10447/630653
https://doi.org/10.3390/medicina60020254

المؤلفون: Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto

مصطلحات موضوعية: Medicine, Genetics, Cancer, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Haplotypes, Founder mutation, Common ancestor, Hereditary leiomyomatosis, FH, Renal cell cancer, Fumarate hydratase, Leiomyoma

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Genetic_and_clinical_characterization_of_a_novel_FH_founder_mutation_in_families_with_hereditary_leiomyomatosis_and_renal_cell_cancer_syndrome/25092536

الاتاحة: https://doi.org/10.6084/m9.figshare.25092536.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Genetic_and_clinical_characterization_of_a_novel_FH_founder_mutation_in_families_with_hereditary_leiomyomatosis_and_renal_cell_cancer_syndrome/25092536

المؤلفون: Pagnamenta, Alistair T, Walker, Susan, Noble, Alexandra J, Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Ibnouf Hussein, Rana, Lalloo, Fiona, Waite, Adrian, Evans, Julie, Allen, Zoe, Perez-Becerril, Cristina, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D Gareth, Burghel, George J, Smith, Miriam J, Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Taupin, Doug, Rogers, Mark T, Cook, Jackie A, Durkie, Miranda, East, James E, Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H, Taylor, Jenny C

المصدر: Pagnamenta , A T , Walker , S , Noble , A J , Lord , J , Dutta , P , Hashim , M , Camps , C , Green , H , Devaiah , S , Nashef , L , Parr , J , Fratter , C , Ibnouf Hussein , R , Lalloo , F , Waite , A , Evans , J , Allen , Z , Perez-Becerril , C , Hart , R , Taylor , J , Bedenham , T , Clement , E , Blair , E , Hay , E , ....

مصطلحات موضوعية: APC, HOXD cluster, MECP2, MSH2, PacBio, RNA-seq, complex rearrangement, founder mutation, genome sequencing, inversion

Relation: https://research.manchester.ac.uk/en/publications/7dad3af0-9972-4fcf-bf14-b8c838652855

الاتاحة: https://research.manchester.ac.uk/en/publications/7dad3af0-9972-4fcf-bf14-b8c838652855
https://doi.org/10.1016/j.ajhg.2024.04.018
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001259116900001&DestLinkType=FullRecord&DestApp=WOS_CPL
http://www.scopus.com/inward/record.url?scp=85194919461&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/234b5073-a50a-304a-9613-54f6372e5308/

المؤلفون: Julieta Dominguez-Ortiz, Rosa M. Álvarez-Gómez, Rogelio Montiel-Manríquez, Alberto Cedro-Tanda, Nicolás Alcaraz, Clementina Castro-Hernández, Luis Bautista-Hinojosa, Laura Contreras-Espinosa, Leda Torres-Maldonado, Verónica Fragoso-Ontiveros, Yuliana Sánchez-Contreras, Rodrigo González-Barrios, Marcela Angélica De la Fuente-Hernández, María de la Luz Mejía-Aguayo, Ulises Juárez-Figueroa, Alejandra Padua-Bracho, Rodrigo Sosa-León, Gabriela Obregon-Serrano, Silvia Vidal-Millán, Paulina María Núñez-Martínez, Abraham Pedroza-Torres, Sergio Nicasio-Arzeta, Alfredo Rodríguez, Fernando Luna, Fernanda Cisneros-Soberanis, Sara Frías, Cristian Arriaga-Canon, Luis A. Herrera-Montalvo

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6773 (2024)

مصطلحات موضوعية: hereditary breast and ovarian cancer, BRCA1, pathogenic variants, founder mutation, BRCA1 Δ9–12, allele differential expression, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/12/6773; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/63f3b50e5ad24d0bb3e2d341782421ea

الاتاحة: https://doi.org/10.3390/ijms25126773
https://doaj.org/article/63f3b50e5ad24d0bb3e2d341782421ea

المؤلفون: Tuazon, Anna Marie De Asis, Lott, Paul, Bohórquez, Mabel, Benavides, Jennyfer, Ramirez, Carolina, Criollo, Angel, Estrada-Florez, Ana, Mateus, Gilbert, Velez, Alejandro, Carmona, Jenny, Olaya, Justo, Garcia, Elisha, Polanco-Echeverry, Guadalupe, Stultz, Jacob, Alvarez, Carolina, Tapia, Teresa, Ashton-Prolla, Patricia, Vega, Ana, Lazaro, Conxi, Tornero, Eva, Martinez-Bouzas, Cristina, Infante, Mar, De La Hoya, Miguel, Diez, Orland, Browning, Brian L, Rannala, Bruce, Teixeira, Manuel R, Carvallo, Pilar, Echeverry, Magdalena, Carvajal-Carmona, Luis G

المصدر: Breast Cancer Research. 22(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Ovarian Cancer, Human Genome, Rare Diseases, Women's Health, Breast Cancer, Genetics, 2.1 Biological and endogenous factors, Africa, BRCA1 Protein, Brazil, Breast Neoplasms, Chile, Chromosomes, Human, Pair 17, Colombia, Female, Founder Effect, Genetic Predisposition to Disease, Genome-Wide Association Study, Germ-Line Mutation, Haplotypes, Humans, Polymorphism, Single Nucleotide, Portugal, Spain, Breast cancer, Haplotype, BRCA1, c.3331_3334delCAAG, Founder mutation, Brazilian Familial Cancer Network, COLUMBUS Consortium, BRCA1 c.3331_3334delCAAG, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7mq49057
https://escholarship.org/content/qt7mq49057/qt7mq49057.pdf

المؤلفون: Anna P. Sokolenko, Luisa V. Sultanova, Ilya A. Stepanov, Alexandr A. Romanko, Aigul R. Venina, Tatiana N. Sokolova, Hedi S. Musayeva, Marina Ya. Tovgereeva, Mareta Kh. Magomedova, Khusein U. Akhmatkhanov, Elisa I. Vagapova, Elkhan A. Suleymanov, Elena V. Vasilyeva, Elvina Kh. Bakaeva, Ilya V. Bizin, Svetlana N. Aleksakhina, Evgeny N. Imyanitov

المصدر: Cancer Medicine, Vol 12, Iss 3, Pp 3167-3171 (2023)

مصطلحات موضوعية: BRCA1 and BRCA2 testing, breast cancer, Chechens, founder mutation, next‐generation sequencing, ovarian cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/f722a1ada1774d7089bbe69758a94d6b

المؤلفون: Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: congenital hyperinsulinism, ABCC8, KCNJ11, GCK, KATP channel, founder mutation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1283907/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1245d9fc0f6545668f7be7e04ecc5a60

المؤلفون: Anurag Mehta, Himanshi Diwan, Garima Gupta, Shrinidhi Nathany, Shalini Agnihotri, Surender Dhanda

المصدر: Journal of Pathology and Translational Medicine, Vol 56, Iss 4, Pp 212-216 (2022)

مصطلحات موضوعية: brca1, brca2, founder mutation, nepal, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://www.jpatholtm.org/upload/pdf/jptm-2022-05-02.pdf; https://doaj.org/toc/2383-7837; https://doaj.org/toc/2383-7845

URL الوصول: https://doaj.org/article/42597e554b174aef9af05ed09d01552d

المؤلفون: Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: congenital adrenal hyperplasia, founder mutation, Romani tribes, consanguinity, CYP21A2 heterozygous advantage, Romani Holocaust, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1170449/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/e78401ebd2f44716a9af33ec243da054

المؤلفون: Debra M Gordon, Pablo Beckers, Emilie Castermans, Sebastian J C M M Neggers, Liliya Rostomyan, Vincent Bours, Patrick Petrossians, Vinciane Dideberg, Albert Beckers, Adrian F Daly

المصدر: Endocrine Connections, Vol 11, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: sdhb, founder mutation, paraganglioma, pheochromocytoma, south africa, dutch, netherlands, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/11/1/EC-21-0560.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/fdb326be44f14b8796f6d3b5360ca482

المؤلفون: Mohamed M. Rizk, Nour M. El-etreby, Lama M. El-Attar, Eman A. Elzyat, Marwa H. Saied

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Familial ovarian cancer, BRCA1 gene, BRCA2 gene, Founder mutation, Pyrosequencing, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/247922d45a754f96991fdba0b6ea46b5