{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:46:42Z","timestamp":1773103602648,"version":"3.50.1"},"reference-count":54,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T00:00:00Z","timestamp":1499644800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["1140450"],"award-info":[{"award-number":["1140450"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras\/<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content> pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras\/<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content> pathway gene copy number variations (<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s). Fifty\u2010nine patients with isolated cryptorchidism and negative for mutations in genes associated with Noonan Syndrome were recruited. Determination of Ras\/<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content> pathway gene <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s was performed by Comparative Genome Hybridization array. A <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content> was identified in two individuals, a ~175\u00a0kb microduplication at 3p25.2, partially including <jats:italic><jats:styled-content style=\"fixed-case\">RAF<\/jats:styled-content>1<\/jats:italic>. A similar <jats:italic><jats:styled-content style=\"fixed-case\">RAF<\/jats:styled-content>1<\/jats:italic> microduplication has been observed in a patient with testicular aplasia. This suggests that some patients with isolated cryptorchidism may harbor Ras\/<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content> pathway gene <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s.<\/jats:p>","DOI":"10.1111\/andr.12390","type":"journal-article","created":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T18:52:37Z","timestamp":1499712757000},"page":"923-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Copy number variants of Ras\/<scp>MAPK<\/scp> pathway genes in patients with isolated cryptorchidism"],"prefix":"10.1111","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-7393","authenticated-orcid":false,"given":"F.","family":"Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Vallejos","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Giraudo","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Unanue","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. I.","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Godoy","sequence":"additional","affiliation":[{"name":"Pediatric Service Hospital Base San Jos\u00e9 Osorno Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"C\u00e9lis","sequence":"additional","affiliation":[{"name":"Pediatric Urology Department Hospital Cl\u00ednico San Borja \u2013 Arriar\u00e1n Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mart\u00edn\u2010Arenas","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ, UAM and CIBERER, ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Palomares\u2010Bralo","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ, UAM and CIBERER, ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ, UAM and CIBERER, ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Pediatric Urology Department Hospital Cl\u00ednico San Borja \u2013 Arriar\u00e1n Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Cassorla","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.114"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0293"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev180"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gav060"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.92.1.44"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36722"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-4"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-6-5"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-28"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1324128111"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M611322200"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.497"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12296"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2008.03784.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32992"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.415"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000288242"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2012-1089"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000201106"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21187"},{"key":"e_1_2_8_24_1","first-page":"240","article-title":"Cryptorchidism: a clinical perspective","volume":"2","author":"Kollin C","year":"2014","journal-title":"Pediatr Endocrinol Rev Suppl"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095922"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.05.051"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1440129"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37155"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35471"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/and.12184"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2009.01257.x"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.4067\/S0370-41062010000300011"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050450"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1996.tb03445.x"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12116"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2073"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh887"},{"key":"e_1_2_8_39_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/978-3-642-59524-0_3","volume-title":"Rapid Cycle Real\u2010Time PCR, Methods and Applications","author":"Rassmussen R","year":"2001"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153523"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33183"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2078"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1306"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20955"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32215"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2001.81.1.153"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1086\/499925"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1939"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.080021"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12894-016-0180-4"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-3060"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200703195"}],"container-title":["Andrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fandr.12390","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/andr.12390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T21:59:56Z","timestamp":1695506396000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/andr.12390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,10]]},"references-count":54,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1111\/andr.12390"],"URL":"https:\/\/doi.org\/10.1111\/andr.12390","archive":["Portico"],"relation":{},"ISSN":["2047-2919","2047-2927"],"issn-type":[{"value":"2047-2919","type":"print"},{"value":"2047-2927","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,10]]},"assertion":[{"value":"2017-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-05-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-07-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}