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Items: 1 to 50 of 108

1.

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. No abstract available.

2.

Genetic causes of proportionate short stature.

Argente J, Pérez-Jurado LA.

Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):499-522. doi: 10.1016/j.beem.2018.05.012. Epub 2018 Jun 6. Review.

PMID:
30086871
3.

Response to growth hormone in patients with RNPC3 mutations.

Martos-Moreno GÁ, Travieso-Suárez L, Pozo-Román J, Muñoz-Calvo MT, Chowen JA, Frilander MJ, Pérez-Jurado LA, Hawkins FG, Argente J.

EMBO Mol Med. 2018 Jul;10(7). pii: e9143. doi: 10.15252/emmm.201809143. No abstract available.

4.

bigSCale: an analytical framework for big-scale single-cell data.

Iacono G, Mereu E, Guillaumet-Adkins A, Corominas R, Cuscó I, Rodríguez-Esteban G, Gut M, Pérez-Jurado LA, Gut I, Heyn H.

Genome Res. 2018 Jun;28(6):878-890. doi: 10.1101/gr.230771.117. Epub 2018 May 3.

6.

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M.

Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257.

PMID:
29604051
7.

Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model.

Ortiz-Romero P, Borralleras C, Bosch-Morató M, Guivernau B, Albericio G, Muñoz FJ, Pérez-Jurado LA, Campuzano V.

PLoS One. 2018 Mar 19;13(3):e0194476. doi: 10.1371/journal.pone.0194476. eCollection 2018.

8.

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency.

Hawkins-Carranza FG, Muñoz-Calvo MT, Martos-Moreno GÁ, Allo-Miguel G, Del Río L, Pozo J, Chowen JA, Pérez-Jurado LA, Argente J.

Horm Res Paediatr. 2018;89(3):200-204. doi: 10.1159/000486336. Epub 2018 Feb 16.

PMID:
29455208
9.

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J.

Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. Erratum in: Blood Adv. 2017 Jul 31;1(18):1368.

10.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457.

11.

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.

Argente J, Chowen JA, Pérez-Jurado LA, Frystyk J, Oxvig C.

EMBO Mol Med. 2017 Oct;9(10):1338-1345. doi: 10.15252/emmm.201707950. Review.

12.

Provision of Genetic Services for Autism and its Impact on Spanish Families.

Codina-Solà M, Pérez-Jurado LA, Cuscó I, Serra-Juhé C.

J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4.

13.

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, González JR, Rodríguez-Santiago B, Argente J, Pérez-Jurado LA.

PLoS Genet. 2017 May 10;13(5):e1006657. doi: 10.1371/journal.pgen.1006657. eCollection 2017 May.

14.

Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences.

Pérez-García D, Brun-Gasca C, Pérez-Jurado LA, Mervis CB.

Am J Intellect Dev Disabil. 2017 Mar;122(2):156-172. doi: 10.1352/1944-7558-122.2.156.

15.

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.

Muñoz-Calvo MT, Barrios V, Pozo J, Chowen JA, Martos-Moreno GÁ, Hawkins F, Dauber A, Domené HM, Yakar S, Rosenfeld RG, Pérez-Jurado LA, Oxvig C, Frystyk J, Argente J.

J Clin Endocrinol Metab. 2016 Nov;101(11):3879-3883. Epub 2016 Sep 20.

16.

Erratum to: The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies.

Earl J, Rico D, Carrillo-de-Santa-Pau E, Rodríguez-Santiago B, Méndez-Pertuz M, Auer H, Gómez G, Grossman HB, Pisano DG, Schulz WA, Pérez-Jurado LA, Carrato A, Theodorescu D, Chanock S, Valencia A, Real FX.

BMC Genomics. 2016 Oct 25;17(1):829. No abstract available.

17.

Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome.

Borralleras C, Mato S, Amédée T, Matute C, Mulle C, Pérez-Jurado LA, Campuzano V.

Mol Brain. 2016 Aug 2;9(1):76. doi: 10.1186/s13041-016-0258-7.

18.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium, Monk D, Lapunzina P.

Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2.

PMID:
27480579
19.

A view on clinical genetics and genomics in Spain: of challenges and opportunities.

Pàmpols T, Ramos FJ, Lapunzina P, Gozalo-Salellas I, Pérez-Jurado LA, Pujol A.

Mol Genet Genomic Med. 2016 Jul 18;4(4):376-91. doi: 10.1002/mgg3.232. eCollection 2016 Jul.

20.

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

Homs A, Codina-Solà M, Rodríguez-Santiago B, Villanueva CM, Monk D, Cuscó I, Pérez-Jurado LA.

Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120.

21.

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.

Cáceres A, Esko T, Pappa I, Gutiérrez A, Lopez-Espinosa MJ, Llop S, Bustamante M, Tiemeier H, Metspalu A, Joshi PK, Wilsonx JF, Reina-Castillón J, Shin J, Pausova Z, Paus T, Sunyer J, Pérez-Jurado LA, González JR.

PLoS One. 2016 Jun 29;11(6):e0157739. doi: 10.1371/journal.pone.0157739. eCollection 2016.

22.

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Machiela MJ, Zhou W, Karlins E, Sampson JN, Freedman ND, Yang Q, Hicks B, Dagnall C, Hautman C, Jacobs KB, Abnet CC, Aldrich MC, Amos C, Amundadottir LT, Arslan AA, Beane-Freeman LE, Berndt SI, Black A, Blot WJ, Bock CH, Bracci PM, Brinton LA, Bueno-de-Mesquita HB, Burdett L, Buring JE, Butler MA, Canzian F, Carreón T, Chaffee KG, Chang IS, Chatterjee N, Chen C, Chen C, Chen K, Chung CC, Cook LS, Crous Bou M, Cullen M, Davis FG, De Vivo I, Ding T, Doherty J, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF, Friedenreich CM, Fuchs CS, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Gaudet MM, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Henriksson R, Holly EA, Hong YC, Hoover RN, Hsiung CA, Hu N, Hu W, Hunter DJ, Hutchinson A, Jenab M, Johansen C, Khaw KT, Kim HN, Kim YH, Kim YT, Klein AP, Klein R, Koh WP, Kolonel LN, Kooperberg C, Kraft P, Krogh V, Kurtz RC, LaCroix A, Lan Q, Landi MT, Marchand LL, Li D, Liang X, Liao LM, Lin D, Liu J, Lissowska J, Lu L, Magliocco AM, Malats N, Matsuo K, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Moore L, Olson SH, Orlow I, Park JY, Patiño-Garcia A, Peplonska B, Peters U, Petersen GM, Pooler L, Prescott J, Prokunina-Olsson L, Purdue MP, Qiao YL, Rajaraman P, Real FX, Riboli E, Risch HA, Rodriguez-Santiago B, Ruder AM, Savage SA, Schumacher F, Schwartz AG, Schwartz KL, Seow A, Wendy Setiawan V, Severi G, Shen H, Sheng X, Shin MH, Shu XO, Silverman DT, Spitz MR, Stevens VL, Stolzenberg-Solomon R, Stram D, Tang ZZ, Taylor PR, Teras LR, Tobias GS, Van Den Berg D, Visvanathan K, Wacholder S, Wang JC, Wang Z, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolpin BM, Wong MP, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xia L, Yang HP, Yang PC, Yu K, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Ziegler RG, Perez-Jurado LA, Caporaso NE, Rothman N, Tucker M, Dean MC, Yeager M, Chanock SJ.

Nat Commun. 2016 Jun 13;7:11843. doi: 10.1038/ncomms11843.

23.

Mosaic loss of chromosome Y is associated with common variation near TCL1A.

Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Virtamo J, Berndt S, Hoover RN, Black A, Silverman D, Figueroa J, Garcia-Closas M, Real FX, Earl J, Marenne G, Rodriguez-Santiago B, Karagas M, Johnson A, Schwenn M, Wu X, Gu J, Ye Y, Hutchinson A, Tucker M, Perez-Jurado LA, Dean M, Yeager M, Chanock SJ.

Nat Genet. 2016 May;48(5):563-8. doi: 10.1038/ng.3545. Epub 2016 Apr 11.

24.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X.

Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.

PMID:
26990548
25.

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GÁ, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Pérez-Jurado LA, Argente J.

EMBO Mol Med. 2016 Apr 1;8(4):363-74. doi: 10.15252/emmm.201506106.

26.

Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry.

Marcos J, Renau N, Valverde O, Aznar-Laín G, Gracia-Rubio I, Gonzalez-Sepulveda M, Pérez-Jurado LA, Ventura R, Segura J, Pozo OJ.

J Chromatogr A. 2016 Feb 19;1434:91-101. doi: 10.1016/j.chroma.2016.01.023. Epub 2016 Jan 14.

PMID:
26818237
27.

Erratum to: The UBC-40 Urothelial Bladder Cancer Cell Line Index: a genomic resource for functional studies.

Earl J, Rico D, Carrillo-de-Santa-Pau E, Rodríguez-Santiago B, Méndez-Pertuz M, Auer H, Gómez G, Grossman HB, Pisano DG, Schulz WA, Pérez-Jurado LA, Carrato A, Theodorescu D, Chanock S, Valencia A, Real FX.

BMC Genomics. 2015 Nov 30;16(1):1019. doi: 10.1186/s12864-015-2227-4. No abstract available.

28.

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.

Borralleras C, Sahun I, Pérez-Jurado LA, Campuzano V.

Mol Ther. 2015 Nov;23(11):1691-1699. doi: 10.1038/mt.2015.130. Epub 2015 Jul 28.

29.

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M.

Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16.

30.

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies.

Earl J, Rico D, Carrillo-de-Santa-Pau E, Rodríguez-Santiago B, Méndez-Pertuz M, Auer H, Gómez G, Grossman HB, Pisano DG, Schulz WA, Pérez-Jurado LA, Carrato A, Theodorescu D, Chanock S, Valencia A, Real FX.

BMC Genomics. 2015 May 22;16:403. doi: 10.1186/s12864-015-1450-3. Erratum in: BMC Genomics. 2015;16(1):1019. BMC Genomics. 2016 Oct 25;17 (1):829.

31.

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

Hernandez-Ferrer C, Quintela Garcia I, Danielski K, Carracedo Á, Pérez-Jurado LA, González JR.

BMC Bioinformatics. 2015 May 20;16:167. doi: 10.1186/s12859-015-0608-y.

32.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I.

Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.

33.

Common and rare variants of microRNA genes in autism spectrum disorders.

Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B.

World J Biol Psychiatry. 2015 Sep;16(6):376-386. doi: 10.3109/15622975.2015.1029518. Epub 2015 Apr 23.

PMID:
25903372
34.

Characterization of large structural genetic mosaicism in human autosomes.

Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Crous Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD 3rd, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, VanDen Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF Jr, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen C, Khaw KT, Koh WP, Kolonel LN, Kooperberg C, Krogh V, Kurtz RC, LaCroix A, Landgren A, Landi MT, Li D, Liao LM, Malats N, McGlynn KA, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Peplonska B, Peters U, Petersen GM, Prokunina-Olsson L, Purdue M, Qiao YL, Rabe KG, Rajaraman P, Real FX, Riboli E, Rodríguez-Santiago B, Rothman N, Ruder AM, Savage SA, Schwartz AG, Schwartz KL, Sesso HD, Severi G, Silverman DT, Spitz MR, Stevens VL, Stolzenberg-Solomon R, Stram D, Tang ZZ, Taylor PR, Teras LR, Tobias GS, Viswanathan K, Wacholder S, Wang Z, Weinstein SJ, Wheeler W, White E, Wiencke JK, Wolpin BM, Wu X, Wunder JS, Yu K, Zanetti KA, Zeleniuch-Jacquotte A, Ziegler RG, de Andrade M, Barnes KC, Beaty TH, Bierut LJ, Desch KC, Doheny KF, Feenstra B, Ginsburg D, Heit JA, Kang JH, Laurie CA, Li JZ, Lowe WL, Marazita ML, Melbye M, Mirel DB, Murray JC, Nelson SC, Pasquale LR, Rice K, Wiggs JL, Wise A, Tucker M, Pérez-Jurado LA, Laurie CC, Caporaso NE, Yeager M, Chanock SJ.

Am J Hum Genet. 2015 Mar 5;96(3):487-97. doi: 10.1016/j.ajhg.2015.01.011.

35.

Metabolic abnormalities in Williams-Beuren syndrome.

Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA.

J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6.

PMID:
25663682
36.

DNA methylation abnormalities in congenital heart disease.

Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA.

Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536.

37.

Lateral preference in Williams-Beuren syndrome is associated with cognition and language.

Pérez-García D, Flores R, Brun-Gasca C, Pérez-Jurado LA.

Eur Child Adolesc Psychiatry. 2015 Sep;24(9):1025-33. doi: 10.1007/s00787-014-0652-6. Epub 2014 Nov 28.

PMID:
25431039
38.

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children.

Martos-Moreno GÁ, Serra-Juhé C, Pérez-Jurado LA, Argente J.

Arch Dis Child. 2014 Oct;99(10):965-7. doi: 10.1136/archdischild-2014-307097. Epub 2014 Aug 1. No abstract available.

PMID:
25085994
39.

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V.

Hum Mol Genet. 2014 Dec 15;23(24):6481-94. doi: 10.1093/hmg/ddu368. Epub 2014 Jul 15.

PMID:
25027326
40.

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M, Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA.

Am J Hum Genet. 2014 Mar 6;94(3):361-72. doi: 10.1016/j.ajhg.2014.01.015. Epub 2014 Feb 20.

41.

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

Argente J, Flores R, Gutiérrez-Arumí A, Verma B, Martos-Moreno GÁ, Cuscó I, Oghabian A, Chowen JA, Frilander MJ, Pérez-Jurado LA.

EMBO Mol Med. 2014 Mar;6(3):299-306. doi: 10.1002/emmm.201303573. Epub 2014 Jan 30.

42.

[Bardet-Biedl syndrome: diagnostic usefulness of exome sequencing].

Martos Moreno GÁ, Rodríguez-Santiago B, González Gutiérrez-Solana L, Pérez-Jurado LA, Argente J.

An Pediatr (Barc). 2014 Mar;80(3):e100-1. doi: 10.1016/j.anpedi.2013.09.005. Epub 2013 Oct 26. Spanish. No abstract available.

43.

TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif.

Segura-Puimedon M, Borralleras C, Pérez-Jurado LA, Campuzano V.

Gene. 2013 Sep 25;527(2):529-36. doi: 10.1016/j.gene.2013.06.050. Epub 2013 Jul 3.

PMID:
23831514
44.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

45.

[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization].

Martos-Moreno GÁ, Campos C, Flores R, Yturriaga R, Pérez-Jurado LA, Argente J.

An Pediatr (Barc). 2013 Oct;79(4):248-52. doi: 10.1016/j.anpedi.2013.04.005. Epub 2013 May 30. Spanish.

46.

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B.

Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6.

PMID:
23277129
47.

A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

Granell S, Serra-Juhé C, Martos-Moreno GÁ, Díaz F, Pérez-Jurado LA, Baldini G, Argente J.

PLoS One. 2012;7(12):e50894. doi: 10.1371/journal.pone.0050894. Epub 2012 Dec 12.

48.

Contribution of rare copy number variants to isolated human malformations.

Serra-Juhé C, Rodríguez-Santiago B, Cuscó I, Vendrell T, Camats N, Torán N, Pérez-Jurado LA.

PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.

49.

De novo duplication and deletions at 7q in a three-generation family.

Isidor B, Villa O, Pichon O, Briand A, Poulain D, Boisseau P, Pérez-Jurado LA, Le Caignec C.

Am J Med Genet A. 2012 Jun;158A(6):1493-7. doi: 10.1002/ajmg.a.35332. Epub 2012 May 10. No abstract available.

PMID:
22577094
50.

Detectable clonal mosaicism and its relationship to aging and cancer.

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