Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

Autor: Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100733- (2021)

Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of

Externí odkaz: https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

Autor: Miriam Aza-Carmona, Mariana del Pino, Virginia Fano, Karen E. Heath, Rosario Ramos Mejía, María Gabriela Obregon

Publikováno v: J Pediatr Genet

Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::893d19bd77e1a95f304f82c277ad33de
https://doi.org/10.1055/s-0039-1695056

Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome

Autor: Boris Rebolledo-Jaramillo, Abel Gomez, Victoria Huckstadt, Gabriela M. Repetto, María Gabriela Obregon

Publikováno v: Genes, Vol 12, Iss 92, p 92 (2021)
Genes
Volume 12
Issue 1

Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7301d26121b59edfb4760a725794cf
https://www.mdpi.com/2073-4425/12/1/92

Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome

Autor: Boris Rebolledo-Jaramillo, María Gabriela Obregon, Abel Gomez, Gabriela M. Repetto, Huckstadt

22q11.2 deletion syndrome (22q11DS) has an incidence of 1 in 4,000. Most cases occur de novo, but about 10–15% of cases are inherited. Features include congenital heart disease, cleft palate, developmental delay, and other characteristics that can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e6777c5fc64b4c9cf539ce6aec455fe
https://doi.org/10.1101/2020.05.31.20118646

Williams–Beuren syndrome in diverse populations

Autor: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones

Publikováno v: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dad
https://doi.org/10.1002/ajmg.a.38672