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

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Autor: Jahic A; Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.; Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany., Günther S; Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany., Muschol N; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Fossøy Stadheim B; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Braaten Ø; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Kjensli Hyldebrandt H; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Kuiper GA; Pediatric Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands., Tylee K; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester, UK., Wijburg FA; Pediatric Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands., Beetz C; Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.; Centogene AG, Rostock, Germany.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e00615. Date of Electronic Publication: 2019 Jul 18.

Two male sibs with severe micrognathia and a missense variant in MED12.

Autor: Prescott TE; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway. Electronic address: prescott@online.no., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Heimdal KR; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Stadheim B; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Hopp E; Department of Radiology and Nuclear Medicine, Oslo University Hospital, 0424, Oslo, Norway., Gambin T; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Coban Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Jhangiani SN; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Human Genome Sequencing Center (HGSC), Baylor College of Medicine, Houston, TX, 77030, USA., Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Human Genome Sequencing Center (HGSC), Baylor College of Medicine, Houston, TX, 77030, USA., Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Human Genome Sequencing Center (HGSC), Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Human Genome Sequencing Center (HGSC), Baylor College of Medicine, Houston, TX, 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2016 Aug; Vol. 59 (8), pp. 367-72. Date of Electronic Publication: 2016 Jun 07.

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

Autor: Holm I; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. ingunn.holm@medisin.uio.no, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL

Publikováno v: Gene [Gene] 2013 Apr 15; Vol. 518 (2), pp. 457-60. Date of Electronic Publication: 2013 Jan 29.