Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Jose Gomez M, García de Miguel MJ, del Campo M, Vidal López M, García Hortelano J. PROBLEMÁTICA SOCIO-FAMILIAR DE LOS NIÑOS INFECTADOS POR EL VIH. Anales Españoles de Pediatría. 1995; 42(1):43-48.
del Campo Casanelles M, Pérez Rodríguez J, García Guereta L, Delicado A, Quero Jiménez J. [Catch-22: current implication of the microdeletion in 22q11]. An Esp Pediatr. 1996 Oct;45(4):341-5. Review. PubMed PMID: 9005718.
González Armengod C, García-Alix A, del Campo M, Garrido JM, Quero J. [Kabuki's syndrome. A recognizable picture from early infancy]. An Esp Pediatr. 1997 Oct;47(4):429-31. PubMed PMID: 9499317.
Del Campo M, Kosaki K, Bennett FC, Jones KL. Developmental delay in fetal aminopterin/methotrexate syndrome. Teratology. 1999 Jul;60(1):10-2. doi: 10.1002/(SICI)1096-9926(199907)60:1<10::AID-TERA5>3.0.CO;2-H. Review. PubMed PMID: 10413333.
Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet. 1999 Jul;65(1):104-10. doi: 10.1086/302467. PubMed PMID: 10364522; PubMed Central PMCID: PMC1378080.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet. 1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. Review. PubMed PMID: 10405446.
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. PubMed PMID: 10556296.
Veraksa A, Del Campo M, McGinnis W. Developmental patterning genes and their conserved functions: from model organisms to humans. Mol Genet Metab. 2000 Feb;69(2):85-100. doi: 10.1006/mgme.2000.2963. Review. PubMed PMID: 10720435.
del Campo Casanelles M, Pérez Jurado L. [Non-Mendelian genetics and growth. The Russel-Silver syndrome]. An Esp Pediatr. 2001 Jun;54(6):531-5. PubMed PMID: 11412398.
Casanelles Mdel C, Gil-Fernández JJ, Casero LF, Bengoechea MG, Serrano R, Rañada JM, Jurado LA. Portal hypertension in Williams syndrome: report of two patients. Am J Med Genet A. 2003 May 1;118A(4):372-6. doi: 10.1002/ajmg.a.10205. PubMed PMID: 12687671.
Bayés M, Ramos JA, Cormand B, Hervas-Zúñiga A, del Campo M, Duran-Tauleria E, Ribasés M, Vilella-Cuadrada E, de Diego-Otero Y, Casas-Brugué M, Estivill X. [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. Rev Neurol. 2005 Jan 15;40 Suppl 1:S187-90. PubMed PMID: 15736086.
Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. PubMed PMID: 16236740; PubMed Central PMCID: PMC2893213.
Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. [Williams syndrome: its clinical aspects and molecular bases]. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Review. PubMed PMID: 16506136.
Lapunzina Badía P, del Campo Casanelles M, Delicado Navarro A, Fernández-Toral J, García-Alix A, García-Guereta L, Pérez Jurado LA, Ramos Fuentes FJ, Sánchez Díaz A, Urioste Azcorra M. [Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]. An Pediatr (Barc). 2006 Mar;64(3):252-9. doi: 10.1157/13085513. PubMed PMID: 16527093.
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31. PubMed PMID: 16532385; PubMed Central PMCID: PMC1424678.
May PA, Fiorentino D, Phillip Gossage J, Kalberg WO, Eugene Hoyme H, Robinson LK, Coriale G, Jones KL, del Campo M, Tarani L, Romeo M, Kodituwakku PW, Deiana L, Buckley D, Ceccanti M. Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools. Alcohol Clin Exp Res. 2006 Sep;30(9):1562-75. doi: 10.1111/j.1530-0277.2006.00188.x. PubMed PMID: 16930219.
Ceccanti M, Alessandra Spagnolo P, Tarani L, Luisa Attilia M, Chessa L, Mancinelli R, Stegagno M, Francesco Sasso G, Romeo M, Jones KL, Robinson LK, Del Campo M, Phillip Gossage J, May PA, Eugene Hoyme H. Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention. Neurosci Biobehav Rev. 2007;31(2):270-7. doi: 10.1016/j.neubiorev.2006.06.024. Epub 2007 Jan 9. PubMed PMID: 17215042.
Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. Am J Med Genet A. 2007 May 15;143A(10):1108-13. doi: 10.1002/ajmg.a.31709. PubMed PMID: 17431916.
Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27. PubMed PMID: 18405349; PubMed Central PMCID: PMC2358878.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. PubMed PMID: 19246517; PubMed Central PMCID: PMC2671988.
Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9. doi: 10.1002/bdra.20585. PubMed PMID: 19350654; PubMed Central PMCID: PMC3137883.
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. PubMed PMID: 20150575.
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5. PubMed PMID: 19897463.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review. PubMed PMID: 20503313.
Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM, Chambers CD. Fetal alcohol spectrum disorders: Extending the range of structural defects. Am J Med Genet A. 2010 Nov;152A(11):2731-5. doi: 10.1002/ajmg.a.33675. PubMed PMID: 20949507; PubMed Central PMCID: PMC3143840.
Toma C, Hervás A, Balmaña N, Vilella E, Aguilera F, Cuscó I, del Campo M, Caballero R, De Diego-Otero Y, Ribasés M, Cormand B, Bayés M. Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism. J Psychiatr Res. 2011 Feb;45(2):280-2. doi: 10.1016/j.jpsychires.2010.09.001. PubMed PMID: 20888579.
Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R. High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita. Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2. PubMed PMID: 22664374.
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H. Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. PubMed PMID: 23122587; PubMed Central PMCID: PMC3487128.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. PubMed PMID: 23222957; PubMed Central PMCID: PMC4012842.
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. Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. PubMed PMID: 23277129.
Renard M, Callewaert B, Malfait F, Campens L, Sharif S, del Campo M, Valenzuela I, Mcwilliam C, Coucke P, De Paepe A, De Backer J. Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. Int J Cardiol. 2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25. PubMed PMID: 23102774.
Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration. Am J Med Genet A. 2013 Sep;161A(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. PubMed PMID: 23894094.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. PubMed PMID: 23320472.
Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K. Dysmorphology at a distance: results of a web-based diagnostic service. Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10. PubMed PMID: 23838594; PubMed Central PMCID: PMC3925265.
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ. Similar phenotypes caused by mutations in OTOG and OTOGL. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. PubMed PMID: 24378291; PubMed Central PMCID: PMC3999258.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. PubMed PMID: 24403048; PubMed Central PMCID: PMC4014191.
Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE. Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. PLoS One. 2014;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PubMed PMID: 25122490; PubMed Central PMCID: PMC4133263.
Teixidó-Turà G, Valenzuela I, Gutiérrez L, Borregan M, del Campo M, Evangelista A. Nonsyndromic familial aortic disease: an underdiagnosed entity. Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. PubMed PMID: 25200617.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. PubMed PMID: 25046559.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. PubMed PMID: 25196541.
Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, del Campo M, Hernando C, Villa O, Plaja A. Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome. Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. PubMed PMID: 25720458.
Borrell A, Armengol L, Casals E, Cirigliano V, del Campo M, de la Chica R, Figueres F, Plaja A. Recommendations for the clinical application of aneuploidy detection in cell-free fetal DNA in maternal blood. Prog Obstet Ginecol. 2015 April; 58(4):199-201. doi: 10.1016/j.pog.2014.12.003.
Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA. Metabolic abnormalities in Williams-Beuren syndrome. J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. PubMed PMID: 25663682.
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. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. Mol Autism. 2015;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. PubMed PMID: 25969726; PubMed Central PMCID: PMC4427998.
Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review. PubMed PMID: 25703627.
Daverio-Zanetti S, Schultz K, del Campo MA, Malcarne V, Riley N, Sadler GR. Is religiosity related to attitudes toward clinical trials participation?. J Cancer Educ. 2015 Jun;30(2):220-4. doi: 10.1007/s13187-014-0696-9. PubMed PMID: 24953236; PubMed Central PMCID: PMC4276542.
Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. PubMed PMID: 25898808; PubMed Central PMCID: PMC5086082.
Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA, García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V. Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor. PLoS One. 2015;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015. PubMed PMID: 26317783; PubMed Central PMCID: PMC4552764.
Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. PubMed PMID: 26382598.
del Campo M, Plaja A, Casals E, Figueras F, de la Chica R, Armengol L, Cirigliano V, Borrell A. Recommendations for the clinical use of genomic microarray in prenatal diagnosis. Progresos de Obstetricia y Ginecología. 2015 December; 58(10):470-473. doi: doi:10.1016/j.pog.2015.05.003.
What would you like to do?