Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Claudia Gonzaga-Jauregui"'
Autor:
Alina German, Lena Sagi-Dain, Irena Kessel, Claudia Gonzaga-Jauregui, Amir Peleg, Alina Kurolap, Nina Ekhilevitch, Tamar Paperna, Hagit Baris Feldman
Publikováno v:
American Journal of Medical Genetics Part A. 185:3161-3166
Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibilit
Autor:
Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v:
Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Autor:
Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
Publikováno v:
Human Mutation. 41:150-168
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inac
Autor:
Edwin M. Stone, Carly J. van der Heide, Claudia Gonzaga-Jauregui, Ben R. Roos, Wallace L.M. Alward, Todd E. Scheetz, Michael G. Anderson, Robert F. Mullins, Young H. Kwon, Wes Goar, Val C. Sheffield, Baojian Fan, Erin A. Boese, Kacie J. Meyer, Nathan C. Sears, Adam P. DeLuca, Kai Wang, Owen M. Siggs, Jamie E Craig, Robert Ritch, John H. Fingert, Janey L. Wiggs
Publikováno v:
BMC Genomics
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
Background Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component, however,
Autor:
P de Vries, E Schaafsma, L. E. L. M. Vissers, Simon Cockell, Mauro Santibanez-Koref, Christian Gilissen, Miguel J. Xavier, Sabine Kliesch, Harsh Sheth, G S Holt, Frank Tüttelmann, Gdn Astuti, Jonathan Coxhead, Moira K O'Bryan, GW van der Heijden, Corinna Friedrich, Helen Turner, Brendan J Houston, Kathrin Fleischer, Antoni Riera-Escamilla, Joris A. Veltman, Kenneth I. Aston, Aneta Mikulasova, H Ismail, David J. Elliott, L. Ramos, Kevin McEleny, HE Smith, Liina Nagirnaja, Csilla Krausz, J Greenwood, Roos M. Smits, Francesco K. Mastrorosa, Bks Alobaidi, Claudia Gonzaga-Jauregui, LE Batty, Kwm D’Hauwers, D.D.M. Braat, Donald F. Conrad, Oud
IntroductionDe novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness1. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b25224d79980a7a76f4c1d8e08942fba
https://doi.org/10.1101/2021.02.27.433155
https://doi.org/10.1101/2021.02.27.433155
Autor:
Alan R. Shuldiner, Malak Darawshe, Avi Fellner, Claudia Gonzaga-Jauregui, Alexander Lossos, Zohar Argov, Gabriel Arie Lidzbarsky, Noam Shomron, Elena Kogan, Lina Basel-Salmon, Lily Bazak, Yael Goldberg
Publikováno v:
Clinical geneticsREFERENCES. 99(5)
POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The gen
The genomic techniques developed in recent decades have advanced the field of genetics very rapidly by playing an essential role in identifying disease-causing variation, functionally characterizing many of the ~25,000 computationally annotated genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbf25a24b21d5b963720e793f33ca6ea
https://doi.org/10.1016/b978-0-12-820140-4.00010-7
https://doi.org/10.1016/b978-0-12-820140-4.00010-7
Publikováno v:
Genomics of Rare Diseases ISBN: 9780128201404
From karyotyping to sequencing, the development and improvement of technologies that allow to study the human genome at greater resolution have revealed the extent to which it varies. A major contributor to human genomic variation is structural varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8db49de5857378260916662949d7aba2
https://doi.org/10.1016/b978-0-12-820140-4.00004-1
https://doi.org/10.1016/b978-0-12-820140-4.00004-1
Autor:
Lukas Habegger, Suganthi Balasubramanian, Michael N. Cantor, Deepika Sharma, Jeffrey Staples, Ashish Yadav, Claudia Gonzaga-Jauregui, Jeffrey G. Reid, Shareef Khalid, Andrew Blumenfeld
ObjectiveLarge scale next-generation sequencing of population cohorts paired with patients’ electronic health records (EHR) provides an excellent resource for the study of gene-disease associations. To validate those associations, researchers often
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3c55d2f5cd63e5aa988f6093ad8d439
https://doi.org/10.1101/2020.07.29.226993
https://doi.org/10.1101/2020.07.29.226993
Autor:
William C. Nichols, Katie A. Lutz, Pah Biobank Enrolling Centers’ Investigators, Yufeng Shen, Anna W. Coleman, Claudia Gonzaga-Jauregui, Michael W. Pauciulo, Lisa J. Martin, Wendy K. Chung, Hua He, Na Zhu, Carrie L. Welch, Joseph M. Grimes, Jiayao Wang
Publikováno v:
Genome medicine, vol 11, iss 1
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-16 (2019)
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-16 (2019)
Background Group 1 pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary arterioles leads to increased pulmonary pressures, right ventricular hypertrophy, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9ef36d2f9445b430647c0111413a9b
https://escholarship.org/uc/item/9vn9t1rs
https://escholarship.org/uc/item/9vn9t1rs