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Items: 1 to 50 of 59

1.

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E.

Eur J Med Genet. 2018 Jul 10. pii: S1769-7212(17)30691-2. doi: 10.1016/j.ejmg.2018.07.007. [Epub ahead of print]

PMID:
30006058
2.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M.

Behav Genet. 2018 Jun 7. doi: 10.1007/s10519-018-9902-6. [Epub ahead of print]

PMID:
29882083
3.

Hepatic accumulation of S-Adenosylmethionine in hamsters with non-alcoholic-fatty liver disease associated to metabolic syndrome under selenium and vitamin E deficiency.

Del Bas JM, Rodríguez B, Puiggròs F, Mariné S, Rodríguez MA, Moriña D, Armengol L, Caimari A, Arola L.

Clin Sci (Lond). 2017 Nov 9. pii: CS20171039. doi: 10.1042/CS20171039. [Epub ahead of print]

PMID:
29122967
4.

Recommendations for the use of microarrays in prenatal diagnosis.

Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos.

Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. English, Spanish.

PMID:
28233562
5.

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
6.

Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia.

Salaverria I, Martín-Garcia D, López C, Clot G, García-Aragonés M, Navarro A, Delgado J, Baumann T, Pinyol M, Martin-Guerrero I, Carrió A, Costa D, Queirós AC, Jayne S, Aymerich M, Villamor N, Colomer D, González M, López-Guillermo A, Campo E, Dyer MJ, Siebert R, Armengol L, Beà S.

Genes Chromosomes Cancer. 2015 Nov;54(11):668-80. doi: 10.1002/gcc.22277. Epub 2015 Aug 25.

7.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P.

Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.

8.

Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

Ramos L, del Rey J, Daina G, García-Aragonés M, Armengol L, Fernandez-Encinas A, Parriego M, Boada M, Martinez-Passarell O, Martorell MR, Casagran O, Benet J, Navarro J.

PLoS One. 2014 Nov 21;9(11):e113223. doi: 10.1371/journal.pone.0113223. eCollection 2014.

9.

Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption.

Delgado J, Salaverria I, Baumann T, Martínez-Trillos A, Lee E, Jiménez L, Navarro A, Royo C, Santacruz R, López C, Payer AR, Colado E, González M, Armengol L, Colomer D, Pinyol M, Villamor N, Aymerich M, Carrió A, Costa D, Clot G, Giné E, López-Guillermo A, Campo E, Beà S.

Haematologica. 2014 Nov;99(11):e231-4. doi: 10.3324/haematol.2014.108365. Epub 2014 Jul 4. No abstract available.

10.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
11.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14.

12.

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X.

J Med Genet. 2013 Jul;50(7):455-62. doi: 10.1136/jmedgenet-2013-101602. Epub 2013 May 17.

PMID:
23687349
13.

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.

Bassaganyas L, Riveira-Muñoz E, García-Aragonés M, González JR, Cáceres M, Armengol L, Estivill X.

BMC Genomics. 2013 Apr 17;14:261. doi: 10.1186/1471-2164-14-261.

14.

Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.

Gallego X, Molas S, Amador-Arjona A, Marks MJ, Robles N, Murtra P, Armengol L, Fernández-Montes RD, Gratacòs M, Pumarola M, Cabrera R, Maldonado R, Sabrià J, Estivill X, Dierssen M.

Amino Acids. 2012 Aug;43(2):897-909. doi: 10.1007/s00726-011-1149-y. Epub 2011 Nov 19.

PMID:
22101982
15.

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.

Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA.

Hum Genet. 2012 Mar;131(3):513-23. doi: 10.1007/s00439-011-1095-5.

16.

MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data.

Cáceres A, Armengol L, Villatoro S, González JR.

BMC Bioinformatics. 2011 May 11;12:147. doi: 10.1186/1471-2105-12-147.

17.

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.

González JR, Rodríguez-Santiago B, Cáceres A, Pique-Regi R, Rothman N, Chanock SJ, Armengol L, Pérez-Jurado LA.

BMC Bioinformatics. 2011 May 17;12:166. doi: 10.1186/1471-2105-12-166.

18.

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).

Mademont-Soler I, Morales C, Armengol L, Soler A, Sánchez A.

Am J Med Genet A. 2010 Sep;152A(9):2308-12. doi: 10.1002/ajmg.a.33550.

PMID:
20683983
19.

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA.

Am J Hum Genet. 2010 Jul 9;87(1):129-38. doi: 10.1016/j.ajhg.2010.06.002.

20.

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.

Ramos MD, Masvidal L, Giménez J, Bieth E, Seia M, des Georges M, Armengol L, Casals T.

Ann Hum Genet. 2010 Sep 1;74(5):463-9. doi: 10.1111/j.1469-1809.2010.00591.x. Epub 2010 Jun 17.

21.

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.

Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, Guitart M, Martín-Santos R, Menchón JM, Navinés R, Soria V, Torrens M, Urretavizcaya M, Vallès V, Gratacòs M, Estivill X.

J Psychiatr Res. 2010 Oct;44(14):971-8. doi: 10.1016/j.jpsychires.2010.03.007. Epub 2010 Apr 15.

PMID:
20398908
22.

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M.

BMC Med Genet. 2009 Dec 23;10:144. doi: 10.1186/1471-2350-10-144.

23.

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X.

PLoS One. 2009 Dec 14;4(12):e8269. doi: 10.1371/journal.pone.0008269. Erratum in: PLoS One. 2010;5(6). doi: 10.1371/annotation/f551fde5-fde4-4485-9e9d-c94bd501a078.

24.

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities.

Morales C, Mademont-Soler I, Armengol L, Milà M, Badenas C, Andrés S, Soler A, Sánchez A.

Cytogenet Genome Res. 2009;125(4):334-40. doi: 10.1159/000235940. Epub 2009 Oct 27.

PMID:
19864897
25.

Identification of copy number variants defining genomic differences among major human groups.

Armengol L, Villatoro S, González JR, Pantano L, García-Aragonés M, Rabionet R, Cáceres M, Estivill X.

PLoS One. 2009 Sep 30;4(9):e7230. doi: 10.1371/journal.pone.0007230.

26.

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.

Rodríguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R, Armengol L, Vilella E, Gabau E, Guitart M, Guillamat R, Martorell L, Valero J, Gutiérrez-Zotes A, Labad A, Carracedo A, Estivill X, Pérez-Jurado LA.

Mol Psychiatry. 2010 Oct;15(10):1023-33. doi: 10.1038/mp.2009.53. Epub 2009 Jun 16.

PMID:
19528963
27.

Accounting for uncertainty when assessing association between copy number and disease: a latent class model.

González JR, Subirana I, Escaramís G, Peraza S, Cáceres A, Estivill X, Armengol L.

BMC Bioinformatics. 2009 Jun 6;10:172. doi: 10.1186/1471-2105-10-172.

28.

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.

de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, Lázaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X.

Nat Genet. 2009 Feb;41(2):211-5. doi: 10.1038/ng.313. Epub 2009 Jan 25.

29.

Origin of primate orphan genes: a comparative genomics approach.

Toll-Riera M, Bosch N, Bellora N, Castelo R, Armengol L, Estivill X, Albà MM.

Mol Biol Evol. 2009 Mar;26(3):603-12. doi: 10.1093/molbev/msn281. Epub 2008 Dec 8.

PMID:
19064677
30.

ProSeeK: a web server for MLPA probe design.

Pantano L, Armengol L, Villatoro S, Estivill X.

BMC Genomics. 2008 Nov 28;9:573. doi: 10.1186/1471-2164-9-573.

31.

Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.

Beà S, Salaverria I, Armengol L, Pinyol M, Fernández V, Hartmann EM, Jares P, Amador V, Hernández L, Navarro A, Ott G, Rosenwald A, Estivill X, Campo E.

Blood. 2009 Mar 26;113(13):3059-69. doi: 10.1182/blood-2008-07-170183. Epub 2008 Nov 4.

32.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

33.

Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.

Bosch N, Escaramís G, Mercader JM, Armengol L, Estivill X.

Gene. 2008 Sep 1;420(2):113-7. doi: 10.1016/j.gene.2008.05.003. Epub 2008 May 13.

PMID:
18602769
34.

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

González JR, Carrasco JL, Armengol L, Villatoro S, Jover L, Yasui Y, Estivill X.

BMC Bioinformatics. 2008 Jun 4;9:261. doi: 10.1186/1471-2105-9-261.

35.

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.

Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M.

Behav Brain Funct. 2008 Feb 19;4:10. doi: 10.1186/1744-9081-4-10.

36.

Maximizing association statistics over genetic models.

González JR, Carrasco JL, Dudbridge F, Armengol L, Estivill X, Moreno V.

Genet Epidemiol. 2008 Apr;32(3):246-54. doi: 10.1002/gepi.20299.

PMID:
18228557
37.

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.

Solé X, Hernández P, de Heredia ML, Armengol L, Rodríguez-Santiago B, Gómez L, Maxwell CA, Aguiló F, Condom E, Abril J, Pérez-Jurado L, Estivill X, Nunes V, Capellá G, Gruber SB, Moreno V, Pujana MA.

BMC Genomics. 2008 Jan 11;9:12. doi: 10.1186/1471-2164-9-12.

38.

The emerging role of structural variations in common disorders: initial findings and discovery challenges.

Armengol L, Rabionet R, Estivill X.

Cytogenet Genome Res. 2008;123(1-4):108-17. doi: 10.1159/000184698. Epub 2009 Mar 11. Review.

PMID:
19287145
39.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M.

BMC Genomics. 2007 Nov 29;8:443.

40.

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.

Marques-Bonet T, Sànchez-Ruiz J, Armengol L, Khaja R, Bertranpetit J, Lopez-Bigas N, Rocchi M, Gazave E, Navarro A.

Genome Biol. 2007;8(10):R230.

42.

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.

Bosch N, Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X.

Hum Mol Genet. 2007 Nov 1;16(21):2572-82. Epub 2007 Aug 7.

PMID:
17684299
43.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, Asthana S, Malhotra A, Adzhubei I, Greenbaum JA, Andrews RM, Flicek P, Boyle PJ, Cao H, Carter NP, Clelland GK, Davis S, Day N, Dhami P, Dillon SC, Dorschner MO, Fiegler H, Giresi PG, Goldy J, Hawrylycz M, Haydock A, Humbert R, James KD, Johnson BE, Johnson EM, Frum TT, Rosenzweig ER, Karnani N, Lee K, Lefebvre GC, Navas PA, Neri F, Parker SC, Sabo PJ, Sandstrom R, Shafer A, Vetrie D, Weaver M, Wilcox S, Yu M, Collins FS, Dekker J, Lieb JD, Tullius TD, Crawford GE, Sunyaev S, Noble WS, Dunham I, Denoeud F, Reymond A, Kapranov P, Rozowsky J, Zheng D, Castelo R, Frankish A, Harrow J, Ghosh S, Sandelin A, Hofacker IL, Baertsch R, Keefe D, Dike S, Cheng J, Hirsch HA, Sekinger EA, Lagarde J, Abril JF, Shahab A, Flamm C, Fried C, Hackermüller J, Hertel J, Lindemeyer M, Missal K, Tanzer A, Washietl S, Korbel J, Emanuelsson O, Pedersen JS, Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, Srinivasan KG, Sung WK, Ooi HS, Chiu KP, Foissac S, Alioto T, Brent M, Pachter L, Tress ML, Valencia A, Choo SW, Choo CY, Ucla C, Manzano C, Wyss C, Cheung E, Clark TG, Brown JB, Ganesh M, Patel S, Tammana H, Chrast J, Henrichsen CN, Kai C, Kawai J, Nagalakshmi U, Wu J, Lian Z, Lian J, Newburger P, Zhang X, Bickel P, Mattick JS, Carninci P, Hayashizaki Y, Weissman S, Hubbard T, Myers RM, Rogers J, Stadler PF, Lowe TM, Wei CL, Ruan Y, Struhl K, Gerstein M, Antonarakis SE, Fu Y, Green ED, Karaöz U, Siepel A, Taylor J, Liefer LA, Wetterstrand KA, Good PJ, Feingold EA, Guyer MS, Cooper GM, Asimenos G, Dewey CN, Hou M, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, Pardi F, Massingham T, Huang H, Zhang NR, Holmes I, Mullikin JC, Ureta-Vidal A, Paten B, Seringhaus M, Church D, Rosenbloom K, Kent WJ, Stone EA; NISC Comparative Sequencing Program; Baylor College of Medicine Human Genome Sequencing Center; Washington University Genome Sequencing Center; Broad Institute; Children's Hospital Oakland Research Institute, Batzoglou S, Goldman N, Hardison RC, Haussler D, Miller W, Sidow A, Trinklein ND, Zhang ZD, Barrera L, Stuart R, King DC, Ameur A, Enroth S, Bieda MC, Kim J, Bhinge AA, Jiang N, Liu J, Yao F, Vega VB, Lee CW, Ng P, Shahab A, Yang A, Moqtaderi Z, Zhu Z, Xu X, Squazzo S, Oberley MJ, Inman D, Singer MA, Richmond TA, Munn KJ, Rada-Iglesias A, Wallerman O, Komorowski J, Fowler JC, Couttet P, Bruce AW, Dovey OM, Ellis PD, Langford CF, Nix DA, Euskirchen G, Hartman S, Urban AE, Kraus P, Van Calcar S, Heintzman N, Kim TH, Wang K, Qu C, Hon G, Luna R, Glass CK, Rosenfeld MG, Aldred SF, Cooper SJ, Halees A, Lin JM, Shulha HP, Zhang X, Xu M, Haidar JN, Yu Y, Ruan Y, Iyer VR, Green RD, Wadelius C, Farnham PJ, Ren B, Harte RA, Hinrichs AS, Trumbower H, Clawson H, Hillman-Jackson J, Zweig AS, Smith K, Thakkapallayil A, Barber G, Kuhn RM, Karolchik D, Armengol L, Bird CP, de Bakker PI, Kern AD, Lopez-Bigas N, Martin JD, Stranger BE, Woodroffe A, Davydov E, Dimas A, Eyras E, Hallgrímsdóttir IB, Huppert J, Zody MC, Abecasis GR, Estivill X, Bouffard GG, Guan X, Hansen NF, Idol JR, Maduro VV, Maskeri B, McDowell JC, Park M, Thomas PJ, Young AC, Blakesley RW, Muzny DM, Sodergren E, Wheeler DA, Worley KC, Jiang H, Weinstock GM, Gibbs RA, Graves T, Fulton R, Mardis ER, Wilson RK, Clamp M, Cuff J, Gnerre S, Jaffe DB, Chang JL, Lindblad-Toh K, Lander ES, Koriabine M, Nefedov M, Osoegawa K, Yoshinaga Y, Zhu B, de Jong PJ.

Nature. 2007 Jun 14;447(7146):799-816.

44.

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M.

J Inherit Metab Dis. 2007 Oct;30(5):813. Epub 2007 Jun 14.

PMID:
17570074
45.

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M.

Am J Med Genet A. 2007 May 1;143A(9):916-20.

PMID:
17431911
46.

SNPassoc: an R package to perform whole genome association studies.

González JR, Armengol L, Solé X, Guinó E, Mercader JM, Estivill X, Moreno V.

Bioinformatics. 2007 Mar 1;23(5):644-5. Epub 2007 Jan 31.

PMID:
17267436
47.

Global variation in copy number in the human genome.

Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME.

Nature. 2006 Nov 23;444(7118):444-54.

48.

Genome assembly comparison identifies structural variants in the human genome.

Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L.

Nat Genet. 2006 Dec;38(12):1413-8. Epub 2006 Nov 22.

49.

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H.

Hum Genet. 2006 Sep;120(2):270-84. Epub 2006 Jul 13.

PMID:
16838144
50.

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.

Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Müller S, Cooper DN, Estivill X, Enard W, Szamalek JM, Hameister H, Kehrer-Sawatzki H.

Hum Genet. 2006 Mar;119(1-2):185-98. Epub 2006 Jan 5.

PMID:
16395594

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