Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Autor: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84

Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531

What is new in dilatation of the ascending aorta?: review of current literature and practical advice for the cardiologist.

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Publikováno v: Circulation; 3/1/2011, Vol. 123 Issue 8, p924-928, 5p

Lamin A/C -Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Autor: Hoorntje ET; For the author affiliations, please see the Appendix., Bollen IA; For the author affiliations, please see the Appendix., Barge-Schaapveld DQ; For the author affiliations, please see the Appendix., van Tienen FH; For the author affiliations, please see the Appendix., Te Meerman GJ; For the author affiliations, please see the Appendix., Jansweijer JA; For the author affiliations, please see the Appendix., van Essen AJ; For the author affiliations, please see the Appendix., Volders PG; For the author affiliations, please see the Appendix., Constantinescu AA; For the author affiliations, please see the Appendix., van den Akker PC; For the author affiliations, please see the Appendix., van Spaendonck-Zwarts KY; For the author affiliations, please see the Appendix., Oldenburg RA; For the author affiliations, please see the Appendix., Marcelis CL; For the author affiliations, please see the Appendix., van der Smagt JJ; For the author affiliations, please see the Appendix., Hennekam EA; For the author affiliations, please see the Appendix., Vink A; For the author affiliations, please see the Appendix., Bootsma M; For the author affiliations, please see the Appendix., Aten E; For the author affiliations, please see the Appendix., Wilde AA; For the author affiliations, please see the Appendix., van den Wijngaard A; For the author affiliations, please see the Appendix., Broers JL; For the author affiliations, please see the Appendix., Jongbloed JD; For the author affiliations, please see the Appendix., van der Velden J; For the author affiliations, please see the Appendix., van den Berg MP; For the author affiliations, please see the Appendix., van Tintelen JP; For the author affiliations, please see the Appendix. p.vantintelen@amc.nl.

Publikováno v: Circulation. Cardiovascular genetics [Circ Cardiovasc Genet] 2017 Aug; Vol. 10 (4).

Clinical Reasoning: Heart to swallow.

Autor: van Westerloo DJ; From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands. djvanwesterloo@lumc.nl., Barge-Schaapveld DQ; From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands., Bikker H; From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands., van Noorden MS; From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands., Tannemaat MR; From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands.

Publikováno v: Neurology [Neurology] 2016 May 17; Vol. 86 (20), pp. e210-4.

Intellectual disability and hemizygous GPD2 mutation.

Autor: Barge-Schaapveld DQ; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RC

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2013 May; Vol. 161A (5), pp. 1044-50. Date of Electronic Publication: 2013 Mar 29.