Zobrazeno 1 - 10
of 20
pro vyhledávání: ''
Autor:
Mirjam Plantinga, Marjolein Y. Berger, Irene M. van Langen, Erwin Birnie, Kristin M. Abbott, Anneke Lucassen, Adelita V. Ranchor, Juliette Schuurmans, Angela Fenwick
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(9), 1761-1768. Nature Publishing Group
Genetics in Medicine, 23(9), 1761-1768. Nature Publishing Group
Purpose: the aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reprodu
Autor:
Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann
Publikováno v:
Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic finding
Autor:
Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium
Publikováno v:
Genetics in Medicine, 20, 480-485
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origi
Autor:
Cornelia Kraus, Christiane Zweier, Rami Abou Jamra, Patricia Klinger, Sarah Schuhmann, Nadine N. Hauer, Steffen Uebe, Heinrich Sticht, Christian Thiel, Christian Büttner, Helmuth-Günther Dörr, Arif B. Ekici, Karen E. Heath, Fulvia Ferrazzi, Bernt Popp, Antje Wiesener, Alfonso Hisado-Oliva, Erdmute Kunstmann, Anita Rauch, Martin Zenker, Eva Schoeller, Dagmar Wieczorek, André Reis, Udo Trautmann
Publikováno v:
Genetics in Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Purpose Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. Methods We systematically phenotyped 565 pati
Autor:
Eric Levey, Donald W. Hadley, Jin S. Hahn, Beth Solomon, Karin Weiss, Wadih M. Zein, Debbie Baldwin, Casey K. Hadsall, Audrey Thurm, Erich Roessler, Paul Kruszka, Nancy J. Clegg, Edythe Wiggs, Robert B. Hufnagel, Yonit A. Addissie, Maria J. Guillen Sacoto, Mauricio R. Delgado, Elaine E. Stashinko, Maximilian Muenke, Ping Hu, Bethany Stokes
Publikováno v:
Genetics in Medicine
Purpose With improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes. Methods Parti
Autor:
Shinji Saitoh, Akie Nakamura, Reiko Horikawa, Maki Fukami, Tohru Yorifuji, Rika Kosaki, Keisuke Nagasaki, Tsutomu Ogata, Keiko Matsubara, Seiji Mizuno, Chikahiko Numakura, Masayo Kagami, Yasuhiro Naiki, Toshihiro Tajima
Publikováno v:
Genetics in Medicine
Purpose Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14. Methods We performed molecular studie
Autor:
Rachel Morissette, Meredith Elman, Toni R Prezant, Ninet Sinaii, Fady Hannah-Shmouni, Deborah P. Merke, Wuyan Chen, Ann E. Pulver
Publikováno v:
Genetics in Medicine
Purpose Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers),
Publikováno v:
Genetics in Medicine
Public variant databases support the curation, clinical interpretation, and sharing of genomic data, thus reducing harmful errors or delays in diagnosis. As variant databases are increasingly relied on in the clinical context, there is concern that n
Autor:
Ingrid M.E. Frohn-Mulder, Rolf M. F. Berger, Robert M.W. Hofstra, Jolien W. Roos-Hesselink, Wilhelmina S. Kerstjens-Frederikse, Klaske D. Lichtenbelt, Ingrid M.B.H. van de Laar, Jolien S. Klein Wassink-Ruiter, Marja W. Wessels, Yvonne J. Vos, Johan H P Janssen, Joost P. van Melle, Karin Y. van Spaendonck-Zwarts, C. M. Bilardo, Paul A. van der Zwaag, Judith M.A. Verhagen, Klasien A. Bergman, Gideon J. du Marchie Sarvaas
Publikováno v:
Genetics in Medicine, 18(9), 914-923. Nature Publishing Group
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left
Autor:
James M. Hoffman, Heidi L. Rehm, Stuart A. Scott, Kelly E. Caudle, Jonathan D. Burlison, Robert R. Freimuth, Michelle Whirl-Carrillo, Josh F. Peterson, Teri E. Klein, Mary V. Relling, Marc S. Williams, Henry M. Dunnenberger
Publikováno v:
Genetics in Medicine
Introduction: Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not stan