{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:54:00Z","timestamp":1762869240497},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T00:00:00Z","timestamp":1700524800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T00:00:00Z","timestamp":1700524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1007\/s13353-023-00803-6","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T14:02:58Z","timestamp":1700575378000},"page":"303-308","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome"],"prefix":"10.1007","volume":"65","author":[{"given":"Fatima","family":"Ouboukss","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najlae","family":"Adadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadia","family":"Amasdl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiam","family":"Smaili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatima Zahra","family":"Laarabi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaber","family":"Lyahyai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilham","family":"Ratbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,11,21]]},"reference":[{"issue":"3","key":"803_CR1","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1089\/gte.2006.10.186","volume":"10","author":"DR Bertola","year":"2006","unstructured":"Bertola DR, Pereira AC, Albano LMJ, De Oliveira PSL, Kim CA, Krieger JE (2006) PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 10(3):186\u2013191","journal-title":"Genet Test"},{"issue":"2","key":"803_CR2","first-page":"19","volume":"3","author":"M Digilio","year":"2001","unstructured":"Digilio M, Marino B (2001) Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol 3(2):19\u201330","journal-title":"Images Paediatr Cardiol"},{"issue":"11","key":"803_CR3","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/j.jfma.2012.06.002","volume":"112","author":"ML Essawi","year":"2013","unstructured":"Essawi ML, Ismail MF, Afifi HH, Kobesiy MM, El Kotoury A, Barakat MM (2013) Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome. J Formos Med Assoc Taiwan Yi Zhi 112(11):707\u2013712","journal-title":"J Formos Med Assoc Taiwan Yi Zhi"},{"issue":"7","key":"803_CR4","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1007\/s00246-009-9473-7","volume":"30","author":"MF Faienza","year":"2009","unstructured":"Faienza MF, Giordani L, Ferraris M, Bona G, Cavallo L (2009) PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? Pediatr Cardiol 30(7):1012\u20131015","journal-title":"Pediatr Cardiol"},{"issue":"6","key":"803_CR5","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.ejmg.2008.06.011","volume":"51","author":"GB Ferrero","year":"2008","unstructured":"Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C et al (2008) Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 51(6):566\u2013572","journal-title":"Eur J Med Genet"},{"issue":"2","key":"803_CR6","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/S0929-6646(09)60235-7","volume":"106","author":"CS Hung","year":"2007","unstructured":"Hung CS, Lin JL, Lee YJ, Lin SP, Chao MC, Lo FS (2007) Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J Formos Med Assoc Taiwan Yi Zhi 106(2):169\u2013172","journal-title":"J Formos Med Assoc Taiwan Yi Zhi"},{"issue":"8","key":"803_CR7","doi-asserted-by":"publisher","first-page":"3529","DOI":"10.1210\/jcem.87.8.8694","volume":"87","author":"K Kosaki","year":"2002","unstructured":"Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N et al (2002) PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 87(8):3529\u20133533","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"803_CR8","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1111\/j.1399-0004.2007.00839.x","volume":"72","author":"ST Lee","year":"2007","unstructured":"Lee ST, Ki CS, Lee HJ (2007) Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. Clin Genet 72(2):150\u2013155","journal-title":"Clin Genet"},{"issue":"15","key":"803_CR9","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/1471-2350-15-14","volume":"23","author":"FR Lepri","year":"2014","unstructured":"Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML et al (2014) Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. BMC Med Genet 23(15):14","journal-title":"BMC Med Genet"},{"issue":"1","key":"803_CR10","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1002\/ajmg.c.31765","volume":"184","author":"L Linglart","year":"2020","unstructured":"Linglart L, Gelb BD (2020) Congenital heart defects in Noonan syndrome: diagnosis, management, and treatment. Am J Med Genet C Semin Med Genet 184(1):73\u201380","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"803_CR11","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/sj.ejhg.5200935","volume":"11","author":"L Musante","year":"2003","unstructured":"Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G et al (2003) Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet EJHG 11(2):201\u2013206","journal-title":"Eur J Hum Genet EJHG"},{"issue":"8","key":"803_CR12","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1007\/s13312-017-1125-z","volume":"54","author":"DL Narayanan","year":"2017","unstructured":"Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD et al (2017) Hotspots in PTPN11 gene among Indian children with Noonan syndrome. Indian Pediatr 54(8):638\u2013643","journal-title":"Indian Pediatr"},{"issue":"5","key":"803_CR13","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1097\/MOP.0000000000000669","volume":"30","author":"ME Pierpont","year":"2018","unstructured":"Pierpont ME, Digilio MC (2018) Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr 30(5):601\u2013608","journal-title":"Curr Opin Pediatr"},{"issue":"8","key":"803_CR14","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/ng2078","volume":"39","author":"MA Razzaque","year":"2007","unstructured":"Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R et al (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39(8):1013\u20131017","journal-title":"Nat Genet"},{"issue":"1","key":"803_CR15","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1038\/ng1926","volume":"39","author":"AE Roberts","year":"2007","unstructured":"Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA et al (2007) Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39(1):70\u201374","journal-title":"Nat Genet"},{"issue":"9863","key":"803_CR16","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","volume":"381","author":"AE Roberts","year":"2013","unstructured":"Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013) Noonan syndrome. Lancet Lond Engl 381(9863):333\u2013342","journal-title":"Lancet Lond Engl"},{"issue":"4","key":"803_CR17","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1542\/peds.2009-3207","volume":"126","author":"AA Romano","year":"2010","unstructured":"Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al (2010) Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 126(4):746\u2013759","journal-title":"Pediatrics"},{"issue":"2","key":"803_CR18","doi-asserted-by":"publisher","first-page":"e136","DOI":"10.1097\/MPH.0000000000000002","volume":"36","author":"K Sakamoto","year":"2014","unstructured":"Sakamoto K, Imamura T, Asai D, Goto-Kawashima S, Yoshida H, Fujiki A et al (2014) Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation. J Pediatr Hematol Oncol 36(2):e136-139","journal-title":"J Pediatr Hematol Oncol"},{"issue":"9","key":"803_CR19","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1136\/jmg.40.9.704","volume":"40","author":"A Sarkozy","year":"2003","unstructured":"Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C et al (2003) Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40(9):704\u2013708","journal-title":"J Med Genet"},{"issue":"6","key":"803_CR20","doi-asserted-by":"publisher","first-page":"e1325","DOI":"10.1542\/peds.2006-0211","volume":"119","author":"Y Sznajer","year":"2007","unstructured":"Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J et al (2007) The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 119(6):e1325-1331","journal-title":"Pediatrics"},{"issue":"6","key":"803_CR21","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1086\/340847","volume":"70","author":"M Tartaglia","year":"2002","unstructured":"Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I et al (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70(6):1555\u20131563","journal-title":"Am J Hum Genet"},{"issue":"1","key":"803_CR22","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.beem.2010.09.002","volume":"25","author":"M Tartaglia","year":"2011","unstructured":"Tartaglia M, Gelb BD, Zenker M (2011) Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 25(1):161\u2013179","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"803_CR23","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1002\/ajmg.c.32012","volume":"190C","author":"M Tartaglia","year":"2022","unstructured":"Tartaglia M, Aoki Y, Gelb BD (2022) The molecular genetics of RASopathies: An update on novel disease genes and new disorders. Am J Med Genet C Semin Med Genet 190C:425\u2013439","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"803_CR24","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1136\/jmg.2006.046300","volume":"44","author":"M Zenker","year":"2007","unstructured":"Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R et al (2007) Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 44(2):131\u2013135","journal-title":"J Med Genet"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-023-00803-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-023-00803-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-023-00803-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:10:12Z","timestamp":1712707812000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-023-00803-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,21]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["803"],"URL":"https:\/\/doi.org\/10.1007\/s13353-023-00803-6","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,21]]},"assertion":[{"value":"3 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Each parent of the patients gave written consent for clinical data to be published.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}