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LUIS ALBERTO PÉREZ JURADO
LUIS ALBERTO PÉREZ JURADO
Prof. of Genetics, Universitat Pompeu Fabra, Head, Genetics Service, Hosp del Mar - IMIM
Verified email at upf.edu
Title
Cited by
Cited by
Year
Detectable clonal mosaicism and its relationship to aging and cancer
KB Jacobs, M Yeager, W Zhou, S Wacholder, Z Wang, ...
Nature genetics 44 (6), 651-658, 2012
6632012
A DNA methylation fingerprint of 1628 human samples
AF Fernandez, Y Assenov, JI Martin-Subero, B Balint, R Siebert, ...
Genome research 22 (2), 407-419, 2012
4712012
Mutational mechanisms of Williams-Beuren syndrome deletions
M Bayés, LF Magano, N Rivera, R Flores, LAP Jurado
The American Journal of Human Genetics 73 (1), 131-151, 2003
4552003
Severe expressive-language delay related to duplication of the Williams–Beuren locus
MJ Somerville, CB Mervis, EJ Young, EJ Seo, M Del Campo, S Bamforth, ...
New England Journal of Medicine 353 (16), 1694-1701, 2005
3672005
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
3072009
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ...
European journal of medical genetics 52 (2-3), 77-87, 2009
3062009
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
LAP Jurado, R Peoples, P Kaplan, BC Hamel, U Francke
American journal of human genetics 59 (4), 781, 1996
3051996
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome–deletion region at 7q11. 23
R Peoples, Y Franke, YK Wang, L Pérez-Jurado, T Paperna, M Cisco, ...
The American Journal of Human Genetics 66 (1), 47-68, 2000
2322000
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3
M Tachibana, LA Perez-Jurado, A Nakayama, CA Hodgkinson, X Li, ...
Human molecular genetics 3 (4), 553-557, 1994
2311994
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2282013
A duplicated gene in the breakpoint regions of the 7q11. 23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target …
LAP Jurado, YK Wang, R Peoples, A Coloma, J Cruces, U Francke
Human molecular genetics 7 (3), 325-334, 1998
2261998
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11. 23
YK Wang, CH Samos, R Peoples, LA Pérez-Jurado, R Nusse, U Francke
Human Molecular Genetics 6 (3), 465-472, 1997
2081997
STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3‐related genes flanking the Williams‐Beuren syndrome …
N Pezzi, I Prieto, L Kremer, LAP Jurado, C Valero, J Del Mazo, ...
The FASEB Journal 14 (3), 581-592, 2000
1742000
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
A Dauber, MT Muñoz‐Calvo, V Barrios, HM Domené, S Kloverpris, ...
EMBO molecular medicine 8 (4), 363-374, 2016
1732016
Mosaic loss of chromosome Y is associated with common variation near TCL1A
W Zhou, MJ Machiela, ND Freedman, N Rothman, N Malats, C Dagnall, ...
Nature genetics 48 (5), 563-568, 2016
1642016
Partial 7q11. 23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile
A Antonell, M Del Campo, LF Magano, L Kaufmann, JM De La Iglesia, ...
Journal of medical genetics 47 (5), 312-320, 2010
1632010
Diverse growth hormone receptor gene mutations in Laron syndrome.
MA Berg, J Argente, S Chernausek, R Gracia, J Guevara-Aguirre, M Hopp, ...
American journal of human genetics 52 (5), 998, 1993
1611993
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34. 1
LAP Jurado, A Coloma, J Cruces
Genomics 58 (2), 171-180, 1999
1471999
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
M Codina-Solà, B Rodríguez-Santiago, A Homs, J Santoyo, M Rigau, ...
Molecular autism 6, 1-16, 2015
1432015
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome
B Rodríguez-Santiago, N Malats, N Rothman, L Armengol, ...
The American Journal of Human Genetics 87 (1), 129-138, 2010
1422010
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