Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.

Autor: Kelmemi, W.¹, Teeuw, M. E.^2,3, Bochdanovits, Z.², Ouburg, S.⁴, Jonker, M. A.⁵, Alkuraya, F.⁶, Hashem, M.⁶, Kayserili, H.⁷, van Haeringen, A.^8,9, Sheridan, E.^10,11, Masri, A.¹², Cobben, J. M.¹³, Rizzu, P.^2,14, Kostense, P. J.⁵, Dommering, C. J.², Henneman, L.^2,3, Bouhamed-Chaabouni, H.¹, Heutink, P.^2,14, ten Kate, L. P.^2,3, Cornel, M. C.^2,3 mc.cornel@vumc.nl

Publikováno v: BMC Medical Genetics. Jul2015, Vol. 16 Issue 1, p1-11. 11p.

Disease burden and management of Crigler-Najjar Syndrome: report of a world registry.

Autor: Junge, N., Aronson, S. J., Trabelsi, M., Kelmemi, W., Hubert, A., Brigatti, K. W., Fox, M. D., J de Knegt, R., Escher, J. C., Ginocchio, V. M., Iori, R., Zhu, Y., Özcay, F., Rahim, F., ElShabrawi, M. H. F., Shteyer, E., Di Giorgio, A., D`Antiga, L., Mingozzi, F., Brunetti-Pierri, N.

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition; 2022 Supplement, Vol. 74, p654-655, 2p

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Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Autor: Peter Heutink, Fowzan S. Alkuraya, Eamonn Sheridan, Lidewij Henneman, Martina C. Cornel, Piet J. Kostense, A. van Haeringen, Patrizia Rizzu, Wided Kelmemi, Jan-Maarten Cobben, Amira Masri, M. Hashem, Hülya Kayserili, Zoltán Bochdanovits, Charlotte J. Dommering, Sander Ouburg, Marieke Teeuw, Marianne A. Jonker, L. P. ten Kate, H. Bouhamed-Chaabouni

Publikováno v: Kelmemi, W, Teeuw, M E, Bochdanovits, Z, Ouburg, S, Jonker, M A, Alkuraya, F, Hashem, M, Kayserili, H, van Haeringen, A, Sheridan, E, Masri, A, Cobben, J M, Rizzu, P, Kostense, P J, Dommering, C J, Henneman, L, Bouhamed-Chaabouni, H, Heutink, P, ten Kate, L P & Cornel, M C 2015, ' Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ', BMC Medical Genetics, vol. 16, 50 . https://doi.org/10.1186/s12881-015-0191-0
BMC Medical Genetics, 16:50. BioMed Central
BMC medical genetics 16(1), 50 (2015). doi:10.1186/s12881-015-0191-0
BMC medical genetics, 16(1). BioMed Central
BMC Medical Genetics
BMC Medical Genetics, 16

Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be1eec32d5a333f92bac57d08e74873
https://research.vu.nl/en/publications/a11d44ba-b8ef-426c-bbb5-d951bf8d5b1a