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Page 1
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G. Monda E, et al. Circ Genom Precis Med. 2023 Aug;16(4):350-358. doi: 10.1161/CIRCGEN.122.003861. Epub 2023 May 18. Circ Genom Precis Med. 2023. PMID: 37199218
BACKGROUND: We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS: A retrospective, longitudinal multicenter cohort of consecutive c …
BACKGROUND: We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with …
Leopard syndrome.
Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S. Porciello R, et al. Dermatol Online J. 2008 Mar 15;14(3):7. Dermatol Online J. 2008. PMID: 18627709
The L.E.O.P.A.R.D. syndrome is an autosomal, dominant disorder with characteristic features that include: multiple lentigines, cafe au lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonary stenosis, ab …
The L.E.O.P.A.R.D. syndrome is an autosomal, dominant disorder with characteristic features that include: multiple lentigines, …
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP. Boleti O, et al. ESC Heart Fail. 2024 Apr;11(2):923-936. doi: 10.1002/ehf2.14637. Epub 2024 Jan 13. ESC Heart Fail. 2024. PMID: 38217456 Free PMC article.
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS-LAH) …
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with …
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
Calcagni G, Gagliostro G, Limongelli G, Unolt M, De Luca E, Digilio MC, Baban A, Albanese SB, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Marasini M, Cairello F, Madrigali A, Pacileo G, Russo MG, Milanesi O, Formigari R, Brighenti M, Ragni L, Donti A, Drago F, Dallapiccola B, Tartaglia M, Marino B, Versacci P. Calcagni G, et al. Birth Defects Res. 2020 Jun;112(10):725-731. doi: 10.1002/bdr2.1670. Birth Defects Res. 2020. PMID: 32558384
The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. METHODS: A retrospective, multicentric observational study (CArdiac Rasopathy NETwork-CARNET study) was carried out. ...RESULTS: Forty-five patients out of …
The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. METHODS: A retrospectiv …
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.
Galazka P, Jain R, Muthukumar L, Sanders H, Bush M, Jan MF, Jahangir A, Khandheria BK, Tajik AJ. Galazka P, et al. Am J Cardiol. 2020 Nov 15;135:168-173. doi: 10.1016/j.amjcard.2020.08.027. Epub 2020 Aug 28. Am J Cardiol. 2020. PMID: 32866449
Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEOPARD syndrome. ...Although hypertrophic cardiomyopathy is not part of the LEOPARD acronym, it is the most frequent cardiac anomaly observ …
Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEO …
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP. Lee CL, et al. Am J Med Genet A. 2020 Feb;182(2):357-364. doi: 10.1002/ajmg.a.61429. Epub 2019 Dec 14. Am J Med Genet A. 2020. PMID: 31837205
These disorders, such as Noonan syndrome (NS) and NS-related disorders (NSRD), including cardio-facio-cutaneous (CFC) syndrome, Costello syndrome (CS), and NS with multiple lentigines (NSML; also known as LEOPARD syndrome), have a similar systemic phenotype. ...Card …
These disorders, such as Noonan syndrome (NS) and NS-related disorders (NSRD), including cardio-facio-cutaneous (CFC) syndrome, Costello syn …
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D. Conboy E, et al. J Med Genet. 2016 Feb;53(2):123-6. doi: 10.1136/jmedgenet-2015-103177. Epub 2015 Sep 2. J Med Genet. 2016. PMID: 26337637
BACKGROUND: Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and dea …
BACKGROUND: Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant diso …
Multiple lentigines confined to psoriatic plaques induced by biologic agents in psoriasis therapy: a case and review of the literature.
Dogan S, Atakan N. Dogan S, et al. Cutan Ocul Toxicol. 2015;34(3):262-4. doi: 10.3109/15569527.2014.959664. Epub 2015 Mar 25. Cutan Ocul Toxicol. 2015. PMID: 25806714 Review.
Multiple lentigines confined to psoriatic plaques is a rare entity, which is more frequently recognized after the use of systemic biologic agents for psoriasis therapy. ...Hereby, we report a patient who developed multiple lentigines arising in resolve …
Multiple lentigines confined to psoriatic plaques is a rare entity, which is more frequently recognized after the use of syste …
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757
Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sens …
Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, …
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML. Ekvall S, et al. BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. BMC Med Genet. 2015. PMID: 26467218 Free PMC article. Review.
In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals wi …
In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characte …
32 results