Výsledky vyhledávání - "Mariana, Aracena"

Akademický článek

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

Autor: JUAN FRANCISCO CALDERÓN, ALONSO R PUGA, M. LUISA GUZMÁN, CARMEN PAZ ASTETE, MARTA ARRIAZA, MARIANA ARACENA, TERESA ARAVENA, PATRICIA SANZ, GABRIELA M REPETTO

Publikováno v: Biological Research, Vol 42, Iss 4, Pp 461-468 (2009)

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a signif

Externí odkaz: https://doaj.org/article/1434e2b2f32b43bb996772f9d9dc75ef

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Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant

Autor: Mariana Aracena, Diana Ponce, Fernando Cassorla, Nancy Unanue, Francisco Garay, Carla Vallejos, Fernando Rodríguez, Victor M. Bolanos-Garcia

Publikováno v: Journal of Pediatric Genetics. :158-163

We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with fee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf409d55780be2a90ae9f78624b8f03
https://doi.org/10.1055/s-0038-1653977

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RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis

Autor: Fernando Cassorla, Francisco J. Berward, Diana Ponce, Fernando Rodríguez, Mariana Aracena, Bernardita Lopetegui

Publikováno v: American journal of medical genetics. Part A. 179(8)

We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, downslanting palpebral fissures,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044f76dbc85923513e2296f0183e3243
https://pubmed.ncbi.nlm.nih.gov/31145547

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A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects

Autor: Marcela Lagos, Andreina Cattani, Reyes L, Alejandro Martinez-Aguayo, Arriaza M, Hernan Garcia, Mariana Aracena, Cecilia Mellado, Vera A, H Rumié, Lacourt P, Teresa Aravena, Helena Poggi, Avalos C, Mericq, Godoy C

Publikováno v: Hormone Research in Paediatrics. 84:254-257

Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. Aim: To describe the molecular and clinical findings observed in 23

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef4e036fc58c16da63d0f790a76b2b8f
https://doi.org/10.1159/000439109

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Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Autor: Karena Espinoza, Oscar Pizarro, Mariana Aracena, Guillermo Lay-Son, Sofía Catena

Publikováno v: Molecular syndromology. 9(1)

Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78bdeee0f883c6ddcad6f3dbf9cf6c7
https://pubmed.ncbi.nlm.nih.gov/29456478

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Autor: Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam

Publikováno v: PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e06cd71c14234bbd4c39a6af8c3d1ff
http://europepmc.org/articles/PMC5386295

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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with 'Corner Fractures'

Publikováno v: American Journal of Human Genetics, 101, 815-823
American Journal of Human Genetics, 101, 5, pp. 815-823

Item does not contain fulltext Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by ost

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4251a2c38a0d0806eae8fd7b597fa09
https://doi.org/10.1016/j.ajhg.2017.09.019

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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Autor: Lim Jiin Yin, Beth Martin, Mark J. Stephan, Mariana Aracena, Cynthia J. Curry, Inge Krägeloh-Mann, Karen W. Gripp, Koenraad Devriendt, Michael Painter, Livia Garavelli, William B. Dobyns, Rachel Straussberg, Agustina Lanoel, Marie-Claude Addor, Margaret L. McKinnon, Luigi Boccuto, John Graham, Katrina Tatton-Brown, James D. Reggin, Jay Shendure, Colin C. Pritchard, Charles E. Schwartz, Mary Ella M Pierpont, Ian A. Glass, Fiona Stewart, Sulagna C. Saitta, Angeline Hwei Meeng Lai, Evan A. Boyle, Erin Torti, Anne Goriely, Michael T. Gabbett, Melanie Napier, Nicole Martin, Melissa T. Carter, Lisa Worgan, Renzo Guerrini, Katta M. Girisha, Ghayda M. Mirzaa, Chitra Prasad, Rachael Bradshaw, Leah W. Burke, Martin Kircher, Hulya Kayserilli, Andrew E. Timms, Jane Juusola, Karen D. Tsuchiya, Catherine E. Keegan, Robert L. Conway, David Chitayat, Kaylee Park, Hilde Van Esch, Aditi Shah Parikh, Maria R. Cordisco, Valerio Conti, Sondhya Ghedia, Raoul C.M. Hennekam, Sarah Collins, Bridget C. O’Connor, Stephen R. Braddock, Carissa Olds

Publikováno v: JCI insight, vol. 1, no. 9, pp. 18p.
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vasc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e277962199864ba9a67d6d7a87cffb7
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29

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