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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

Autor: Asli Silahtaroglu, Lusine Nazaryan-Petersen, Mads Bak, Lotte Nylandsted Krogh, Maria Kirchhoff, Morten Frisch, Claire A. Boring, Niels Tommerup, Nete Munk Nielsen, Susanne Kjaergaard, Thue Bryndorf, Chelsea Lowther, Peter Jensen, Karen Brøndum-Nielsen, Jan Hansen, Ryan L. Collins, Mana M. Mehrjouy, Michael E. Talkowski, Christina Halgren, Zahra El-Schich, Claus Hansen, Yuan Mang, Christina Fagerberg, Allan Lind-Thomsen, Iben Bache

Publikováno v: Halgren, C, Nielsen, N M, Nazaryan-Petersen, L, Silahtaroglu, A, Collins, R L, Lowther, C, Kjaergaard, S, Frisch, M, Kirchhoff, M, Brøndum-Nielsen, K, Lind-Thomsen, A, Mang, Y, El-Schich, Z, Boring, C A, Mehrjouy, M M, Jensen, P K A, Fagerberg, C, Krogh, L N, Hansen, J, Bryndorf, T, Hansen, C, Talkowski, M E, Bak, M, Tommerup, N & Bache, I 2018, ' Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes ', American Journal of Human Genetics, vol. 102, no. 6, pp. 1090-1103 . https://doi.org/10.1016/j.ajhg.2018.04.005

The 6%–9% risk of an untoward outcome previously established by Warburton for prenatally detected de novo balanced chromosomal rearrangements (BCRs) does not account for long-term morbidity. We performed long-term follow-up (mean 17 years) of a reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deeaa3ef647552fc0aabb4fe8680b625
https://findresearcher.sdu.dk:8443/ws/files/151868134/main_2_.pdf

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Autor: Lynne M. Bird, Fowzan S. Alkuraya, Jennifer MacKenzie, Rebecca Sparkes, Andrea L. Gropman, Cinthya J. Zepeda-Mendoza, Brett H. Graham, Campbell K. Brasington, Diane Masser-Frye, Zehra Ordulu, Debra Rita, Karen W. Gripp, Edward J. Spence, Jonas Ibn-Salem, Erica Spiegel, Ranad Shaheen, Michael E. Talkowski, Tammy Kammin, Cynthia C. Morton, Miguel A. Andrade-Navarro, Peter N. Robinson, David J. Harris

Publikováno v: American journal of human genetics, vol 101, iss 2
Zepeda-Mendoza, C J, Ibn-Salem, J, Kammin, T, Harris, D J, Rita, D, Gripp, K W, MacKenzie, J J, Gropman, A L, Graham, B H, Shaheen, R, Alkuraya, F S, Brasington, C K, Spence, E J, Masser-Frye, D, Bird, L M, Spiegel, E, Sparkes, R L, Ordulu, Z, Talkowski, M E, Andrade-Navarro, M A, Robinson, P N & Morton, C C 2017, ' Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.06.011

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b6b7bb10a88c1688004b3cc06fa972
https://pubmed.ncbi.nlm.nih.gov/28735859

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Autor: Céline Dupont, Richard Delorme, Sandrine Passemard, Laurence Perrin, Gudrun Nygren, Delphine Héron, Marion Leboyer, Azzedine Aboura, Françoise Devillard, Anne-Claude Tabet, Christopher Gillberg, Marion Pilorge, Catalina Betancur, Brigitte Benzacken, Aurélia Jacquette, Jean-Pierre Siffroi, Mary Coleman, Andrée Delahaye, Pierre Bitoun, Elsa Delaby, Alain Verloes, Marion Gérard

Publikováno v: Molecular Autism
Molecular Autism, BioMed Central, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩
Molecular Autism, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩

Background:\ud Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1d53b95eb0615fa27ebd2232ebd2c2
https://www.hal.inserm.fr/inserm-01181008

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