The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Autor: Curry CJ; Genetic Medicine Central California, Fresno, CA 93701, USA. ccurry@fresno.ucsf.edu, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Aug; Vol. 161A (8), pp. 1833-52. Date of Electronic Publication: 2013 Jun 27.

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Autor: Castronovo, Paola, Aleo, Sebastiano, Seresini, Agostino, Grilli, Federico, Brunati, Emilio, Marchisio, Paola, Guez, Sophie, Milani, Donatella

Publikováno v: Genes; Dec2022, Vol. 13 Issue 12, p2197, 7p

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Autor: da Silva Montenegro EM; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Costa CS; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Campos G; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Scliar M; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., de Almeida TF; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Zachi EC; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Silva IMW; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Chan AJS; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Zarrei M; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Lourenço NCV; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Yamamoto GL; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., Scherer S; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Passos-Bueno MR; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Publikováno v: Autism research : official journal of the International Society for Autism Research [Autism Res] 2020 Feb; Vol. 13 (2), pp. 199-206. Date of Electronic Publication: 2019 Nov 06.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Autor: Jillian R Ozmore, Laura Roos, Pim Suwannarat, Chumei Li, A. James Barkovich, Ferrin C. Wheeler, Christina Fels, Taha Ben Saad, Swaroop Aradhya, Arthur S. Aylsworth, Karen W. Gripp, Jennifer Hair, John B. Moeschler, Carol E. Anderson, Donatella Greco, Jesper Graakjaer, Raymond C. Tervo, Cynthia J. Curry, Anne chun-hui Tsai, Susan Sell, Marta Szybowska, Elizabeth Hopkins, Erica T. Grant, Giedre Dybose, Marlene Huggins, William B. Dobyns, Dina J Zand, Mark A. Tarnopolsky, Dea Svaneby, Rhonda E. Schnur, Marco Fichera, Jill A. Rosenfeld, Lisa G. Shaffer, Christina Fagerberg, Megan Tucker, Stephanie E. Vallee, Corrado Romano, Victor V. Chizhikov, Santina Reitano, Roger L. Ladda, Małgorzata J.M. Nowaczyk, Michelle Falco

Publikováno v: Curry, C J, Rosenfeld, J A, Grant, E, Gripp, K W, Anderson, C, Aylsworth, A S, Saad, T B, Chizhikov, V V, Dybose, G, Fagerberg, C, Falco, M, Fels, C, Fichera, M, Graakjaer, J, Greco, D, Hair, J, Hopkins, E, Huggins, M, Ladda, R, Li, C, Moeschler, J, Nowaczyk, M J M, Ozmore, J R, Reitano, S, Romano, C, Roos, L K S, Schnur, R E, Sell, S, Suwannarat, P, Svaneby, D, Szybowska, M, Tarnopolsky, M, Tervo, R, Tsai, A C-H, Tucker, M, Vallee, S, Wheeler, F C, Zand, D J, Barkovich, A J, Aradhya, S, Shaffer, L G & Dobyns, W B 2013, ' The duplication 17p13.3 phenotype : analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes ', American Journal of Medical Genetics. Part A, vol. 161, no. 8, pp. 1833-1852 . https://doi.org/10.1002/ajmg.a.35996

Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef0c3285077de811ab65b76ea89d6761
https://pubmed.ncbi.nlm.nih.gov/23813913