Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Daniel Trujillano"'
Publikováno v:
The Scientific World Journal, Vol 10, Pp 90-102 (2010)
The way in which the genome of a multicellular organism can orchestrate the differentiation of trillions of cells and many organs, all from a single fertilized egg, is the subject of intense study. Different cell types can be defined by the networks
Externí odkaz:
https://doaj.org/article/a82c1bbe7c454c25a7751cc021cb170c
Autor:
Daniel Trujillano, Hatem Zayed, Shivendra Kishore, Mohamed A. Yassin, Arndt Rolfs, Nader Al-Dewik, Tawfeg Ben-Omran
Publikováno v:
Gene. 689:34-42
Clinical Exome Sequencing (CES) has increasingly become a popular diagnostic tool in patients suffering from genetic disorders that are clinically and genetically complicated. Myeloproliferative Neoplasms (MPNs) is an example of a heterogeneous disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a4d43f2834486151490ad530f75df94
https://doi.org/10.1016/j.gene.2018.12.009
https://doi.org/10.1016/j.gene.2018.12.009
Autor:
Jose Maria Garcia-Aznar, Waleed Al-Twaijri, Ahmed Al-Rumayyan, Aida M. Bertoli-Avella, Rami Abou Jamra, Omid Paknia, Anett Marais, Karen Wessel, Oliver Brandau, Rolf Schröder, Julia Köster, Maria Calvo del Castillo, Majid Alfadhel, Krishna Kumar Kandaswamy, Ali Alothaim, Amal Alhashem, Shivendra Kishore, Martin Werber, Daniel Trujillano, Nouriya Al-Sannaa, Maximilian E. R. Weiss, Arndt Rolfs, Mohammed AlBalwi, Muhammad Talal Al Rifai, Nahid Nahavandi, Wafaa Eyaid, Caterina Baldi
Publikováno v:
European Journal of Human Genetics
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d859096a6b2606e713082b48d5edf5
https://doi.org/10.1038/ejhg.2016.146
https://doi.org/10.1038/ejhg.2016.146
Autor:
Katta M. Girisha, Shrijeet Chakraborti, Daniel Trujillano, Anju Shukla, Stephanie L. Bielas, Harsha Prasada L, Arndt Rolfs, Krishna Kumar Kandaswamy, Malavika Hebbar, Nutan Kamath, Ashwin Dalal, Aneek Das Bhowmik
Publikováno v:
American Journal of Medical Genetics Part A. 170:2486-2489
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fda273f2d750d94a861d69f34311d6
https://doi.org/10.1002/ajmg.a.37794
https://doi.org/10.1002/ajmg.a.37794
Autor:
Arndt Rolfs, Anju Shukla, Malavika Hebbar, Katta M. Girisha, Gandham SriLakshmi Bhavani, Rajagopal Kadavigere, Daniel Trujillano
Publikováno v:
Clinical Genetics. 90:536-539
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bce2e6b776193f1b428f56bd846bda05
https://doi.org/10.1111/cge.12762
https://doi.org/10.1111/cge.12762
Autor:
I. De Toma, Daniel Trujillano, Ilona E. Grabowicz, Bartek Wilczyński, Mara Dierssen, Marta Fructuoso
Publikováno v:
eNeuro
Obesogenic diets lead to overeating and obesity by inducing the expression of genes involved in hedonic and homeostatic responses in specific brain regions. However, how the effects on gene expression are coordinated in the brain so far remains large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386adfd47a98ab0437258c4751111f51
https://pubmed.ncbi.nlm.nih.gov/30637329
https://pubmed.ncbi.nlm.nih.gov/30637329
Autor:
Yaopan Mao, Katelynn Toomer, Charles Simpson, David J. Milan, David S. Peal, Francesca N. Delling, Roger R. Markwald, Jorge Solis, Maelle Perrocheau, Ronen Durst, Lisa A. Freed, Amanda J. Johnson, Annemarieke DeVlaming, Christopher Jett, Xavier Estivill, Leticia Fernández-Friera, Adrian H. Chester, Michel Pucéat, Matthew R. Stone, Maire Leyne, Thierry Le Tourneau, Susan A. Slaugenhaupt, Christian Dina, Jean-Jacques Schott, Monica Salani, Kenneth D. Irvine, Katherine Williams, Kimberly Sauls, Andy Wessels, Yoshikazu Tsukasaki, Daniel Trujillano, Xingju Nie, Herve LeMarec, Florie A. Charles, Patrick Bruneval, Donald R. Menick, Robert A. Levine, Stephan Ossowski, Russell A. Norris, Michael E. Talkowski, Harinath Kasiganesan, Nabila Bouatia-Naji, Ann-Marie Broome, Stacey N. Lynch, Tahirali Motiwala, Harrison Brand, Christophe Tribouilloy, Colby Chiang, Albert Hagège, Xavier Jeunemaitre
Publikováno v:
Nature
Nature, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
Nature, Nature Publishing Group, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
Nature, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
Nature, Nature Publishing Group, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
International audience; Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery. Despite a clear heritable c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6591f59e92317fa7a60159dfd5e0c478
http://europepmc.org/articles/PMC4720389
http://europepmc.org/articles/PMC4720389
Autor:
Sabrina Eichler, Maximilian E. R. Weiss, Arndt Rolfs, Jenny Creed, Efstathios B. Papachristos, Erol Baysal, Martin Werber, Julia Köster, Iqbal Yousuf Jaber, Krishna Kumar Kandaswamy, Anett Marais, Chantal Farra, Dina A. Mehaney, Daniel Trujillano
Publikováno v:
Molecular Genetics & Genomic Medicine
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc73e1e93128da283d32bfedb460369
https://doi.org/10.1002/mgg3.149
https://doi.org/10.1002/mgg3.149
Autor:
Xavier Estivill, M. I. Gonzalez, Maria D. Ramos, Josep M. Manzanares, S. Gartner, Teresa Casals, Daniel Trujillano, Stephan Ossowski, F. Sotillo, C. Vazquez, R. Olivar, C. Oliva, E. Quintana, J. Costa
Publikováno v:
Clinical Genetics. 86:91-95
The term cystic fibrosis (CF)-like disease is used to describe patients with a borderline sweat test and suggestive CF clinical features but without two CFTR(cystic fibrosis transmembrane conductance regulator) mutations. We have performed the extens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a74ae014206784feaee294892397a1d
https://doi.org/10.1111/cge.12234
https://doi.org/10.1111/cge.12234
Autor:
Geòrgia Escaramís, Maria D. Ramos, Xavier Estivill, Daniel Trujillano, J. R. Gonzalez, Cristian Tornador, F. Sotillo, Stephan Ossowski, Lluís Armengol, Teresa Casals
Publikováno v:
Journal of Medical Genetics; Vol 50
Background Here we have developed a novel and much more efficient strategy for the complete molecular characterisation of the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, based on multiplexed targeted resequencing. We have tested this ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79af420a0fad2cbbe64d69c682deb0ac
https://doi.org/10.1136/jmedgenet-2013-101602
https://doi.org/10.1136/jmedgenet-2013-101602