المؤلفون: Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Khaled Omar Alahmadi, Saif AlShahrani, Albandary AlBakheet, Mohammad A. Almuhaizea, Robert W. Taylor, Dilek Colak, Namik Kaya

المصدر: Frontiers in Psychiatry, Vol 15 (2024)

مصطلحات موضوعية: ISCA2 founder variant, novel splicing variant, mtDNA, depletion, leukodystrophy, neuroregression, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1428175/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/4ade44fe4cee4ea5857e51d393da9fdb

المؤلفون: Paola Krall, Angélica Rojo, Anita Plaza, Sofia Canals, María Luisa Ceballos, Francisco Cano, José Luis Guerrero

المصدر: Frontiers in Nephrology, Vol 4 (2024)

مصطلحات موضوعية: congenital nephrotic syndrome, NPHS1, kidney survival, Maori founder variant, Rapa Nui (Easter Island), Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneph.2024.1454138/full; https://doaj.org/toc/2813-0626

URL الوصول: https://doaj.org/article/7a6dae05ccdc4aaea1ba54373e6087f0

المؤلفون: Hanne M. Boen, Maaike Alaerts, Lut Van Laer, Johan B. Saenen, Inge Goovaerts, Jarl Bastianen, Pieter Koopman, Philippe Vanduynhoven, Elke De Vuyst, Michael Rosseel, Hein Heidbuchel, Emeline M. Van Craenenbroeck, Bart Loeys

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: MYBPC3, founder variant, cardiogenetic, phenotyping, hypertrophic cardiomyopathy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1392527/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ff57bde99f3543aea920e69875af395f

المؤلفون: Paola Krall, Angélica Rojo, Anita Plaza, Sofia Canals, María Luisa Ceballos, Francisco Cano, José Luis Guerrero

المصدر: Frontiers in Nephrology, Vol 4 (2024)

مصطلحات موضوعية: congenital nephrotic syndrome, NPHS1, kidney survival, Maori founder variant, Rapa Nui (Easter Island), Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneph.2024.1379061/full; https://doaj.org/toc/2813-0626

URL الوصول: https://doaj.org/article/2f56ffd3654f4e21b10167c2f41f8d2b

المؤلفون: Azar, Yara, Le Bon, Hugo, Boileau, Catherine, Abifadel, Marianne, Rabès, Jean Pierre, Varret, Mathilde, Ludwig, Thomas E., Génin, Emmanuelle, Strøm, Thea Bismo, Bogsrud, Martin Prøven, Leren, Trond P., Bluteau, Olivier, Carrié, Alain, Gallo, Antonio, Di-Filippo, Mathilde, Marmontel, Oriane, Peretti, Noël, Moulin, Philippe, Chtioui, Hedi, Béliard, Sophie, Fonteille, Annie, Gebhart, Maite, Ferrières, Jean, Pradignac, Alain, Farnier, Michel, Yelnik, Cécile, Blom, Dirk

المساهمون: Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Université Saint-Joseph de Beyrouth (USJ), AP-HP - Hôpital Bichat - Claude Bernard Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Ambroise Paré AP-HP, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Oslo University Hospital Oslo, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hospices Civils de Lyon (HCL), Assistance Publique - Hôpitaux de Marseille (APHM), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Annecy-Genevois Saint-Julien-en-Genevois, Service de Génétique Biologique, Histologie Biologie du Développement et de la reproduction, Centre Hospitalier Régional universitaire Jean Minjoz (Service de Génétique Biologique, Histologie Biologie du Développement et de la reproduction, Centre Hospitalier Régional universitaire Jean Minjoz), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Physiopathologie et épidémiologie cérébro-cardiovasculaire Dijon (PEC2), Université de Bourgogne (UB)-Université Bourgogne Franche-Comté COMUE (UBFC), Laboratoire de Mécanique des Solides (LMS), École polytechnique (X), Institut Polytechnique de Paris (IP Paris)-Institut Polytechnique de Paris (IP Paris)-Centre National de la Recherche Scientifique (CNRS), Institut d'Immunologie CHRU Lille, Pôle de Biologie Pathologie Génétique CHU Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), University of Cape Town, Council of Research of Saint-Joseph University of Beirut, Conseil National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Fondation de France, This work was supported by grants from La Fondation de France (00121056/WB-2021-36891) (MV), and INSERM (Institut National de la Santé et de la Recherche Médicale) (CB). YA was supported by grants from the Lebanese National Council for Scientific Research (CNRS-L), and the Council of Research of Saint-Joseph University of Beirut, Lebanon (MA)

المصدر: ISSN: 0021-9150.

مصطلحات موضوعية: ADH, Founder variant, HDL-C, Hypercholesterolemia, LDL-C, LDLR, PCSK9, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39500114; PUBMED: 39500114

الاتاحة: https://hal.science/hal-04846286
https://hal.science/hal-04846286v1/document
https://hal.science/hal-04846286v1/file/1-s2.0-S0021915024011687-main.pdf
https://doi.org/10.1016/j.atherosclerosis.2024.118596

المؤلفون: McAdam, Alexa, Ito, Yoko A., Richard, Marilyn, Spiegelman, Dan, Rochefort, Daniel, Xiong, Lan, Oskoui, Maryam, Zielinski, David, Rouleau, Guy A., Zhou, Sirui, Care4Rare Canada Consortium, Boykott, Kym M., De Bie, Isabelle

المصدر: https://doi.org/10.1002/ajmg.a.63974 ; https://onlinelibrary.wiley.com/journal/1552485x.

مصطلحات موضوعية: Founder variant, LCCS11, Nunavik, Fetal akinesia deformation sequence, Gliomedin, GLDN, FADS, Inuit, Lethal congenital contractures syndrome

Relation: https://escholarship.mcgill.ca/concern/articles/7s75dk056

الاتاحة: https://escholarship.mcgill.ca/concern/articles/7s75dk056

المؤلفون: Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth

المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Mucopolysaccharidosis IVA (MPS IVA), Morquio A syndrome, GALNS, Founder variant, p.P77R, 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/07ec449f40fb4a6d8f929f3b71cc0b8d

المؤلفون: Oubaida ElBiad, Abdelilah Laraqui, Fatima El Boukhrissi, Chaimaa Mounjid, Maryame Lamsisi, Tahar Bajjou, Hicham Elannaz, Amine Idriss Lahlou, Jaouad Kouach, Khadija Benchekroune, Mohammed Oukabli, Hafsa Chahdi, Moulay Mustapha Ennaji, Rachid Tanz, Yassir Sbitti, Mohammed Ichou, Khalid Ennibi, Bouabid Badaoui, Yassine Sekhsokh

المصدر: BMC Cancer, Vol 22, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: BRCA genes, Specific variant, recurrent/founder variant, North Africa, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2407

URL الوصول: https://doaj.org/article/04f398f3821943a98ab9b438e1a65005

المؤلفون: Clara Estela Díaz-Velásquez, Rina Gitler, Adriana Antoniano, Ronny Kershenovich Sefchovich, Aldo Hugo De La Cruz-Montoya, Héctor Martínez-Gregorio, Ernesto Arturo Rojas-Jiménez, Ricardo Cortez Cardoso Penha, Luis Ignacio Terrazas, Talia Wegman-Ostrosky, Ephrat Levi-Lahad, Jovanny Zabaleta, Sandra Perdomo, Felipe Vaca-Paniagua

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Ashkenazi Jews, genetic screening, panel of genes, massive parallel sequencing, founder variant, APC, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1094260/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c63f91dad7b64c84aea4ec5de8b7e8e0

المؤلفون: Schoonvelde, Stephan A.C., Ruijmbeek, Claudine W.B., Hirsch, Alexander, van Slegtenhorst, Marjon A., Wessels, Marja W., von der Thüsen, Jan H., Baas, Annette F., Stroeks, Sophie L.V.M., Verdonschot, Job A.J., van der Zwaag, Paul A., Verhagen, Judith M.A., Michels, Michelle

المصدر: Schoonvelde , S A C , Ruijmbeek , C W B , Hirsch , A , van Slegtenhorst , M A , Wessels , M W , von der Thüsen , J H , Baas , A F , Stroeks , S L V M , Verdonschot , J A J , van der Zwaag , P A , Verhagen , J M A & Michels , M 2023 , ' Phenotypic variability of filamin C–related cardiomyopathy : Insights from a novel Dutch founder variant ' , Heart Rhythm , vol. 20 , no. 11 , pp. 1512-1521 . ....

مصطلحات موضوعية: Arrhythmogenic cardiomyopathy, Dilated cardiomyopathy, filamin C, Founder variant, Genotype-phenotype correlation, Sudden cardiac death

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/5c6bf4d2-ae3d-4cc9-9079-c9031d3ae5e7
https://research.rug.nl/en/publications/5c6bf4d2-ae3d-4cc9-9079-c9031d3ae5e7
https://doi.org/10.1016/j.hrthm.2023.08.003
https://pure.rug.nl/ws/files/867994827/Phenotypic_variability_of_filamin_C_related_cardiomyopathy-_Insights_from_a_novel_Dutch_founder_variant.pdf
http://www.scopus.com/inward/record.url?scp=85169507043&partnerID=8YFLogxK

المؤلفون: Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam

المصدر: Genes; Volume 14; Issue 2; Pages: 399

مصطلحات موضوعية: hearing impairment, non-syndromic, genetics, founder variant, gab junction beta 2 (GJB2 ), global populations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14020399

الاتاحة: https://doi.org/10.3390/genes14020399

المؤلفون: Paolo Aretini, Silvano Presciuttini, Aldo Pastore, Alvaro Galli, Sara Panepinto, Mariella Tancredi, Matteo Ghilli, Chiara Guglielmi, Diletta Sidoti, Caterina Congregati, Maria Adelaide Caligo

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15507 (2023)

مصطلحات موضوعية: hereditary breast and ovarian cancer, BRCA1, pathogenic variant, founder variant, Italy, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/21/15507; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/9c138e25fa764f6bb92c4583c4b29072

الاتاحة: https://doi.org/10.3390/ijms242115507
https://doaj.org/article/9c138e25fa764f6bb92c4583c4b29072

المؤلفون: Kankuri-Tammilehto, M. (Minna), Tervasmäki, A. (Anna), Kraatari-Tiri, M. (Minna), Rahikkala, E. (Elisa), Pylkäs, K. (Katri), Kuismin, O. (Outi)

مصطلحات موضوعية: ATM, breast cancer, founder variant, high-risk

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2022112466782

المؤلفون: Redin, C., Pavlidou, D.C., Bhuiyan, Z., Porretta, A.P., Monney, P., Bedoni, N., Maurer, F., Sekarski, N., Atallah, I., Émeline, D., Jeanrenaud, X., Pruvot, E., Fellay, J., Superti-Furga, A.

المصدر: European journal of medical genetics, vol. 65, no. 12, pp. 104627

مصطلحات موضوعية: Adult, Humans, Infant, Newborn, Switzerland, Carrier Proteins/genetics, Cardiomyopathy, Hypertrophic/genetics, Mutation, Heterozygote, Cytoskeletal Proteins/genetics, Founder variant, MYBPC3, hypertrophic cardiomyopathy, Phasing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/36162733; info:eu-repo/semantics/altIdentifier/eissn/1878-0849; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_36267BDE9D6F0; https://serval.unil.ch/notice/serval:BIB_36267BDE9D6F; https://serval.unil.ch/resource/serval:BIB_36267BDE9D6F.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_36267BDE9D6F
https://doi.org/10.1016/j.ejmg.2022.104627
https://serval.unil.ch/resource/serval:BIB_36267BDE9D6F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_36267BDE9D6F0

المؤلفون: Aboagye, Elvis Twumasi, Adadey, Samuel Mawuli, Esoh, Kevin, Jonas, Mario, de Kock, Carmen, Amenga-Etego, Lucas, Awandare, Gordon A, Wonkam, Ambroise

المصدر: Biology ; https://www.mdpi.com/journal/biology ; 11 ; 3 ; 476

مصطلحات موضوعية: connexin 26 (Cx26), non-syndromic hearing impairment, GJB2-p.Arg143Trp (c.427C > T) founder variant, variant origin, Ghana

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11427/36356; https://open.uct.ac.za/bitstream/11427/36356/1/biology-11-00476.pdf

الاتاحة: http://hdl.handle.net/11427/36356
https://open.uct.ac.za/bitstream/11427/36356/1/biology-11-00476.pdf

المؤلفون: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

المصدر: Cells; Volume 11; Issue 19; Pages: 3154

مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, in silico pathogenicity prediction, structural modeling

وصف الملف: application/pdf

Relation: Organelle Function; https://dx.doi.org/10.3390/cells11193154

الاتاحة: https://doi.org/10.3390/cells11193154

المؤلفون: Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Kevin Esoh, Mario Jonas, Carmen de Kock, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam

المصدر: Biology; Volume 11; Issue 3; Pages: 476

مصطلحات موضوعية: connexin 26 (Cx26), non-syndromic hearing impairment, GJB2 -p.Arg143Trp (c.427C > T) founder variant, variant origin, Ghana

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry and Molecular Biology; https://dx.doi.org/10.3390/biology11030476

الاتاحة: https://doi.org/10.3390/biology11030476

المؤلفون: Quinn, Shauna, Walsh, Nicola, Streata, Ioana, Ververi, Athina, Kulshrestha, Samarth, Puri, Ratna Dua, Riza, Anca Lelia, Walsh, Aoibhinn, Gorman, Kathleen, Crushell, Ellen, Green, Andrew, Kenny, Janna, Lynch, Sally Ann

المصدر: Eur J Med Genet ; ISSN:1878-0849 ; Volume:73

مصطلحات موضوعية: Autosomal recessive, Consanguinity, Endogamous, Founder variant, Roma

Relation: https://doi.org/10.1016/j.ejmg.2024.104989; https://pubmed.ncbi.nlm.nih.gov/39709002

الاتاحة: https://doi.org/10.1016/j.ejmg.2024.104989
https://pubmed.ncbi.nlm.nih.gov/39709002

المؤلفون: Brandão, Andreia, Paulo, Paula, Maia, Sofia, Pinheiro, Manuela, Peixoto, Ana, Cardoso, Marta, Silva, Maria P., Santos, Catarina, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Ukgpcs Collaborators, Schleutker, Johanna, Wang, Ying, Pashayan, Nora, Batra, Jyotsna, Apcb BioResource, Grönberg, Henrik, Neal, David E., Nordestgaard, Børge G., Tangen, Catherine M., Southey, Melissa C., Wolk, Alicja, Albanes, Demetrius, Haiman, Christopher A., Travis, Ruth C., Stanford, Janet L., Mucci, Lorelei A., West, Catharine M. L., Nielsen, Sune F., Kibel, Adam S., Cussenot, Olivier, Berndt, Sonja I., Koutros, Stella, Dalsgaard Sørensen, Karina, Cybulski, Cezary, Grindedal, Eli Marie, Park, Jong Y., Ingles, Sue A., Maier, Christiane, Hamilton, Robert J., Rosenstein, Barry S., Vega, Ana, The Impact Study Steering Committee And Collaborators, Kogevinas, Manolis, Wiklund, Fredrik, Penney, Kathryn L., Brenner, Hermann, John, Esther M., Kaneva, Radka, Logothetis, Christopher J., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Canary PASS Investigators, Lessel, Davor, Usmani, Nawaid, Claessens, Frank, Gago-Dominguez, Manuela, Townsend, Paul A., Roobol, Monique J., The Profile Study Steering Committee, The PRACTICAL Consortium, Teixeira, Manuel R.

المصدر: Cancers. 12(11)

مصطلحات موضوعية: CHEK2, cancer predisposition, founder variant, prostate cancer

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427548
https://doi.org/10.3390/cancers12113254
https://uu.diva-portal.org/smash/get/diva2:1507901/FULLTEXT01.pdf

المؤلفون: Igor Araujo Vieira, Tiago Finger Andreis, Bruna Vieira Fernandes, Maria Isabel Achatz, Gabriel S. Macedo, Daniel Schramek, Patricia Ashton-Prolla

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: TP53 gene, p53 protein, lung adenocarcinoma, founder variant, TP53 (p.Arg337His), R337H, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.606537/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7df15f3815fa4a41afe3bcb5da32b9b7