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For: Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13. [PMID: 3543368 PMCID: PMC1049850 DOI: 10.1136/jmg.24.1.9] [Citation(s) in RCA: 291] [Impact Index Per Article: 7.7] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Number Cited by Other Article(s)
1
Hamilton G, Stickler S, Ermakov M, Eggerstorfer MT, Nocera FP, Hohenegger M, Weigl L, Hochmair MJ, Kashofer K. Characterization of the BH1406 non-small cell lung cancer (NSCLC) cell line carrying an activating SOS1 mutation. Transl Lung Cancer Res 2024;13:2987-2997. [PMID: 39670010 PMCID: PMC11632420 DOI: 10.21037/tlcr-24-570] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2024] [Accepted: 09/29/2024] [Indexed: 12/14/2024]
2
Yamada M, Tanito K, Suzuki H, Nakato D, Miya F, Takenouchi T, Kosaki K. Café-au-lait Spots and Cleft Palate: Not a Chance Association. Cleft Palate Craniofac J 2024;61:1932-1936. [PMID: 37448313 DOI: 10.1177/10556656231188205] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 07/15/2023]  Open
3
Kapusta L, Beer G, Rothschild E, Baruch G, Barkay G, Marom D, Grinshpun-Cohen Y, Raskind C, Constantini S, Toledano-Alhadef H. Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome? Int J Cardiovasc Imaging 2024;40:1475-1482. [PMID: 38739321 PMCID: PMC11258153 DOI: 10.1007/s10554-024-03125-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/24/2024] [Accepted: 04/28/2024] [Indexed: 05/14/2024]
4
Huang P, Huang J, Huang Y, Yang M, Kong R, Sun H, Han J, Guo H, Wang S. Optimization and evaluation of facial recognition models for Williams-Beuren syndrome. Eur J Pediatr 2024:10.1007/s00431-024-05646-9. [PMID: 38871980 DOI: 10.1007/s00431-024-05646-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/01/2024] [Revised: 05/24/2024] [Accepted: 06/04/2024] [Indexed: 06/15/2024]
5
De Schepper J, Thomas M, Huysentruyt K, Becker M, Boros E, Casteels K, Chivu O, De Waele K, Dotremont H, Lysy PA, Massa G, Parent AS, Rochtus A, Gies I. Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience. Horm Res Paediatr 2024;98:193-205. [PMID: 38432193 DOI: 10.1159/000538034] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/18/2023] [Accepted: 02/23/2024] [Indexed: 03/05/2024]  Open
6
Marincak Vrankova Z, Krivanek J, Danek Z, Zelinka J, Brysova A, Izakovicova Holla L, Hartsfield JK, Borilova Linhartova P. Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms - a narrative review. Front Pediatr 2023;11:1117493. [PMID: 37441579 PMCID: PMC10334820 DOI: 10.3389/fped.2023.1117493] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2022] [Accepted: 06/06/2023] [Indexed: 07/15/2023]  Open
7
Yang W, Wang Y, Sirajuddin A, He J, Wu W, Sun X, Zhuang B, Li S, Xu J, Zhou D, Zhao S, Lu M. Multimodality Imaging in Noonan Syndrome: Case Series of Young Children. Radiol Cardiothorac Imaging 2023;5:e220218. [PMID: 36860839 PMCID: PMC9969215 DOI: 10.1148/ryct.220218] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2022] [Revised: 01/04/2023] [Accepted: 01/18/2023] [Indexed: 02/25/2023]
8
Harju S, Saari A, Sund R, Sankilampi U. Epidemiology of Disorders Associated with Short Stature in Childhood: A 20-Year Birth Cohort Study in Finland. Clin Epidemiol 2022;14:1205-1214. [PMID: 36320440 PMCID: PMC9618248 DOI: 10.2147/clep.s372870] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2022] [Accepted: 09/23/2022] [Indexed: 11/23/2022]  Open
9
Dahlgren J, Noordam C. Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome. J Clin Med 2022;11:jcm11072034. [PMID: 35407641 PMCID: PMC8999676 DOI: 10.3390/jcm11072034] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2022] [Revised: 03/24/2022] [Accepted: 03/30/2022] [Indexed: 12/23/2022]  Open
10
Dalla-Torre R, Crenn V, Menu P, Isidor B, Guillot P, Le Goff B, Geffroy L, Dauty M, Fouasson-Chailloux A. Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review. Front Med (Lausanne) 2022;8:817873. [PMID: 35111788 PMCID: PMC8802824 DOI: 10.3389/fmed.2021.817873] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2021] [Accepted: 12/27/2021] [Indexed: 11/13/2022]  Open
11
Albaghdadi M, Thibodeau ML, Lara-Corrales I. Updated Approach to Patients with Multiple Café au Lait Macules. Dermatol Clin 2021;40:9-23. [PMID: 34799039 DOI: 10.1016/j.det.2021.08.002] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
12
Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone 2021;152:116060. [PMID: 34144233 PMCID: PMC8316423 DOI: 10.1016/j.bone.2021.116060] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/03/2021] [Revised: 06/07/2021] [Accepted: 06/10/2021] [Indexed: 01/07/2023]
13
Rodríguez F, Gaete X, Cassorla F. Etiology and Treatment of Growth Delay in Noonan Syndrome. Front Endocrinol (Lausanne) 2021;12:691240. [PMID: 34149626 PMCID: PMC8212989 DOI: 10.3389/fendo.2021.691240] [Citation(s) in RCA: 18] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/05/2021] [Accepted: 05/12/2021] [Indexed: 12/05/2022]  Open
14
Arrieta M, Ramos Gaspar R, Santos AL. Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes. INTERNATIONAL JOURNAL OF PALEOPATHOLOGY 2021;33:234-244. [PMID: 34023583 DOI: 10.1016/j.ijpp.2021.05.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/14/2020] [Revised: 05/04/2021] [Accepted: 05/04/2021] [Indexed: 06/12/2023]
15
Porras AR, Summar M, Linguraru MG. Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping. Mol Genet Genomic Med 2021;9:e1636. [PMID: 33773094 PMCID: PMC8172204 DOI: 10.1002/mgg3.1636] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2020] [Accepted: 02/10/2021] [Indexed: 01/07/2023]  Open
16
Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D’Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S. Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome. Brain Sci 2021;11:brainsci11020233. [PMID: 33668418 PMCID: PMC7918671 DOI: 10.3390/brainsci11020233] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/24/2020] [Revised: 02/01/2021] [Accepted: 02/08/2021] [Indexed: 12/12/2022]  Open
17
Negahi A, Jahanshahi F, Boozari B, Sadeghipour A. The occurrence of giant mesenteric cyst and adrenal ganglioneuroma in a schizophrenic male patient presenting as pseudocyesis: A case report. Clin Case Rep 2021;9:193-197. [PMID: 33489158 PMCID: PMC7813079 DOI: 10.1002/ccr3.3496] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/09/2020] [Revised: 07/29/2020] [Accepted: 10/20/2020] [Indexed: 11/09/2022]  Open
18
Alhalabi MM, Alhalabi M. 48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. J Med Case Rep 2020;14:58. [PMID: 32389125 PMCID: PMC7212598 DOI: 10.1186/s13256-020-02375-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2019] [Accepted: 03/19/2020] [Indexed: 12/02/2022]  Open
19
Jensen B, James R, Hong Y, Omoyinmi E, Pilkington C, Sebire NJ, Howell KJ, Brogan PA, Eleftheriou D. A case of Myhre syndrome mimicking juvenile scleroderma. Pediatr Rheumatol Online J 2020;18:72. [PMID: 32917212 PMCID: PMC7488857 DOI: 10.1186/s12969-020-00466-1] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/05/2020] [Accepted: 09/03/2020] [Indexed: 02/06/2023]  Open
20
Noonan Syndrome in 12 -Year-Old Male: Case Report and Orthodontic Management of the Occlusion. BALKAN JOURNAL OF DENTAL MEDICINE 2020. [DOI: 10.2478/bjdm-2020-0020] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]  Open
21
Noonan syndrome: genetic and clinical update and treatment options. ANALES DE PEDIATRÍA (ENGLISH EDITION) 2020. [DOI: 10.1016/j.anpede.2020.04.009] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]  Open
22
H S NS, S S, Patil R, Jadhav S, M C Y, Reddy B, Kharge J, Raghu TR, Shankar S, Raj S, N C, M N, Manjunath CN. Combined cardiac anomalies in Noonan syndrome: A case report. Int J Surg Case Rep 2020;72:32-36. [PMID: 32506025 PMCID: PMC7276397 DOI: 10.1016/j.ijscr.2020.05.048] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/19/2020] [Revised: 05/20/2020] [Accepted: 05/20/2020] [Indexed: 12/02/2022]  Open
23
Carcavilla A, Suárez-Ortega L, Rodríguez Sánchez A, Gonzalez-Casado I, Ramón-Krauel M, Labarta JI, Quinteiro Gonzalez S, Riaño Galán I, Ezquieta Zubicaray B, López-Siguero JP. [Noonan syndrome: genetic and clinical update and treatment options]. An Pediatr (Barc) 2020;93:61.e1-61.e14. [PMID: 32493603 DOI: 10.1016/j.anpedi.2020.04.008] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/12/2020] [Revised: 04/02/2020] [Accepted: 04/03/2020] [Indexed: 12/20/2022]  Open
24
Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review. J Pediatr 2020;220:154-158.e6. [PMID: 32111381 DOI: 10.1016/j.jpeds.2020.01.048] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/17/2019] [Revised: 01/02/2020] [Accepted: 01/21/2020] [Indexed: 01/10/2023]
25
El Bouchikhi I, Bouguenouch L, Moufid FZ, Samri I, Abdouss F, Melhouf MA, Iraqui Houssaini M, Belhassan K, Atmani S, Ouldim K. Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age. EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS 2020. [DOI: 10.1186/s43042-020-0047-9] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]  Open
26
Sanri A, Gurkan H, Demir S. Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. Mol Syndromol 2019;10:344-347. [PMID: 32021610 DOI: 10.1159/000504374] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/22/2019] [Indexed: 11/19/2022]  Open
27
Stuurman KE, Joosten M, van der Burgt I, Elting M, Yntema HG, Meijers-Heijboer H, Rinne T. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. J Med Genet 2019;56:654-661. [PMID: 31040167 DOI: 10.1136/jmedgenet-2018-105746] [Citation(s) in RCA: 44] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/12/2018] [Revised: 03/14/2019] [Accepted: 03/24/2019] [Indexed: 12/19/2022]
28
Croonen EA, Draaisma JMT, van der Burgt I, Roeleveld N, Noordam C. First-year growth in children with Noonan syndrome: Associated with feeding problems? Am J Med Genet A 2019;176:951-958. [PMID: 29575624 DOI: 10.1002/ajmg.a.38649] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/19/2017] [Revised: 01/04/2018] [Accepted: 01/29/2018] [Indexed: 11/06/2022]
29
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome. Case Rep Orthop 2018;2018:7698052. [PMID: 30631623 PMCID: PMC6305014 DOI: 10.1155/2018/7698052] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2018] [Revised: 10/24/2018] [Accepted: 11/25/2018] [Indexed: 11/24/2022]  Open
30
Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes. Postepy Dermatol Alergol 2018;35:437-441. [PMID: 30429698 PMCID: PMC6232548 DOI: 10.5114/pdia.2017.70330] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2018] [Accepted: 06/21/2018] [Indexed: 11/17/2022]  Open
31
Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. Br J Dermatol 2018;180:172-180. [PMID: 30141192 DOI: 10.1111/bjd.17077] [Citation(s) in RCA: 15] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/22/2018] [Indexed: 12/25/2022]
32
Genetic testing for lymphedema in RASopathies. EUROBIOTECH JOURNAL 2018. [DOI: 10.2478/ebtj-2018-0025] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
33
Perrino F, Licchelli S, Serra G, Piccini G, Caciolo C, Pasqualetti P, Cirillo F, Leoni C, Digilio MC, Zampino G, Tartaglia M, Alfieri P, Vicari S. Psychopathological features in Noonan syndrome. Eur J Paediatr Neurol 2018;22:170-177. [PMID: 29037749 DOI: 10.1016/j.ejpn.2017.09.009] [Citation(s) in RCA: 30] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2016] [Revised: 07/29/2017] [Accepted: 09/19/2017] [Indexed: 12/21/2022]
34
Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML. A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. Prenat Diagn 2017;37:1146-1154. [PMID: 28921562 PMCID: PMC5725701 DOI: 10.1002/pd.5156] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2017] [Revised: 09/04/2017] [Accepted: 09/06/2017] [Indexed: 12/17/2022]
35
Khorgami MR, Moradian M, Omidi N, Aarabi Moghadam MY. Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report. J Tehran Heart Cent 2017;12:184-187. [PMID: 29576787 PMCID: PMC5849592] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/01/2022]  Open
36
Croonen EA, Essink M, van der Burgt I, Draaisma JM, Noordam C, Nijhuis-van der Sanden MWG. Motor performance in children with Noonan syndrome. Am J Med Genet A 2017. [PMID: 28627718 DOI: 10.1002/ajmg.a.38322] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
37
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. Int J Pediatr Otorhinolaryngol 2017;97:228-234. [PMID: 28483241 DOI: 10.1016/j.ijporl.2017.04.024] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/10/2017] [Revised: 04/11/2017] [Accepted: 04/12/2017] [Indexed: 11/23/2022]
38
Cardiel Ríos SA. Correction of a severe Class II malocclusion in a patient with Noonan syndrome. Am J Orthod Dentofacial Orthop 2017;150:511-20. [PMID: 27585781 DOI: 10.1016/j.ajodo.2015.09.032] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2015] [Revised: 09/01/2015] [Accepted: 09/01/2015] [Indexed: 10/21/2022]
39
Ben-Shachar S, Dubov T, Toledano-Alhadef H, Mashiah J, Sprecher E, Constantini S, Leshno M, Messiaen LM. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules. J Am Acad Dermatol 2017;76:1077-1083.e3. [PMID: 28318682 DOI: 10.1016/j.jaad.2017.02.027] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2016] [Revised: 02/08/2017] [Accepted: 02/09/2017] [Indexed: 12/18/2022]
40
Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight 2017;2:e91225. [PMID: 28289718 DOI: 10.1172/jci.insight.91225] [Citation(s) in RCA: 67] [Impact Index Per Article: 8.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]  Open
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Papale A, d'Isa R, Menna E, Cerovic M, Solari N, Hardingham N, Cambiaghi M, Cursi M, Barbacid M, Leocani L, Fasano S, Matteoli M, Brambilla R. Severe Intellectual Disability and Enhanced Gamma-Aminobutyric Acidergic Synaptogenesis in a Novel Model of Rare RASopathies. Biol Psychiatry 2017;81:179-192. [PMID: 27587266 DOI: 10.1016/j.biopsych.2016.06.016] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/01/2016] [Revised: 05/16/2016] [Accepted: 06/14/2016] [Indexed: 11/16/2022]
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Sheng Yang X, Ping Sun J, Yan B. Clinical Syndromes Associated with Cardiovascular Diseases: A Review. CARDIOVASCULAR INNOVATIONS AND APPLICATIONS 2017. [DOI: 10.15212/cvia.2016.0071] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022]  Open
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Yapijakis C, Pachis N, Voumvourakis C. Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2017;987:151-159. [PMID: 28971455 DOI: 10.1007/978-3-319-57379-3_14] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
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van Trier DC, Vos AM, Draaijer RW, van der Burgt I, Draaisma JM, Cruysberg JR. Ocular Manifestations of Noonan Syndrome. Ophthalmology 2016;123:2137-46. [DOI: 10.1016/j.ophtha.2016.06.061] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2016] [Revised: 06/16/2016] [Accepted: 06/24/2016] [Indexed: 10/21/2022]  Open
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Zhang J, Li M, Yao Z. Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review). Mol Med Rep 2016;14:4023-4029. [PMID: 27666661 PMCID: PMC5112360 DOI: 10.3892/mmr.2016.5760] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2015] [Accepted: 04/26/2016] [Indexed: 12/28/2022]  Open
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El Bouchikhi I, Belhassan K, Moufid FZ, Iraqui Houssaini M, Bouguenouch L, Samri I, Atmani S, Ouldim K. Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate. Int J Pediatr Adolesc Med 2016;3:133-142. [PMID: 30805484 PMCID: PMC6372459 DOI: 10.1016/j.ijpam.2016.06.003] [Citation(s) in RCA: 50] [Impact Index Per Article: 5.6] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2016] [Accepted: 06/14/2016] [Indexed: 12/16/2022]
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Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M. Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms. Pediatr Dev Pathol 2016;19:278-90. [PMID: 26809023 DOI: 10.2350/16-01-1755-pb.1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
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Croonen EA, Harmsen M, Van der Burgt I, Draaisma JM, Noordam K, Essink M, Nijhuis-van der Sanden MWG. Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives. Am J Med Genet A 2016;170:2349-56. [PMID: 27338165 DOI: 10.1002/ajmg.a.37814] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2015] [Accepted: 06/13/2016] [Indexed: 12/27/2022]
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Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. RASopathies: unraveling mechanisms with animal models. Dis Model Mech 2016. [PMID: 26203125 PMCID: PMC4527292 DOI: 10.1242/dmm.020339] [Citation(s) in RCA: 49] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]  Open
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Chaix MA, Andelfinger G, Khairy P. Genetic testing in congenital heart disease: A clinical approach. World J Cardiol 2016;8:180-191. [PMID: 26981213 PMCID: PMC4766268 DOI: 10.4330/wjc.v8.i2.180] [Citation(s) in RCA: 45] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/08/2015] [Revised: 10/16/2015] [Accepted: 12/11/2015] [Indexed: 02/06/2023]  Open
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