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Quoted phrase not found in phrase index: "LEOPARD syndrome 3"
Page 1
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. ...Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping …
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and …
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M. Lehmann AR, et al. Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Orphanet J Rare Dis. 2011. PMID: 22044607 Free PMC article. Review.
Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe.The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this …
Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in We …
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M, Paccoud R, Branka S, Edouard T, Yart A. Tajan M, et al. Endocr Rev. 2018 Oct 1;39(5):676-700. doi: 10.1210/er.2017-00232. Endocr Rev. 2018. PMID: 29924299 Review.
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello …
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigin …
Male fertility and skin diseases.
Abdel-Naser MB, Zouboulis CC. Abdel-Naser MB, et al. Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. Rev Endocr Metab Disord. 2016. PMID: 27342409 Review.
The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macro …
The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H …
Modeling RASopathies with Genetically Modified Mouse Models.
Hernández-Porras I, Guerra C. Hernández-Porras I, et al. Methods Mol Biol. 2017;1487:379-408. doi: 10.1007/978-1-4939-6424-6_28. Methods Mol Biol. 2017. PMID: 27924582 Review.
The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous s …
The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome wi …
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
We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in 15% of the maximal left ventricular wall thickness (MLVWT), both in mm and z-score (progression); (2) a reduction 15% of the MLVWT, both in mm and z-score (absolute …
We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in 15% of the maximal left …
Diagnosis and treatment of uveal effusion syndrome: a case series and literature review.
Chan W, Fang-tian D, Hua Z, You-xin C, Rong-ping D, Ke T. Chan W, et al. Chin Med Sci J. 2011 Dec;26(4):231-6. doi: 10.1016/s1001-9294(12)60006-6. Chin Med Sci J. 2011. PMID: 22218051 Review.
UBM showed annular peripheral ciliochoroidal detachment in all cases. FFA was performed in 5 patients and revealed leopard spots without leakage from choroid into subretinal space. ICG angiograpy was performed in 3 patients and demonstrated diffused granular marked …
UBM showed annular peripheral ciliochoroidal detachment in all cases. FFA was performed in 5 patients and revealed leopard spots with …
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], N=2; cardiofaciocutaneous syndrome [CFCS], N=14; subjects showing co-occurring pathogenic variants in PTPN11 and NF1, N=3) an …
STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], …
Introduction to phacomatoses (neurocutaneous disorders) in childhood.
Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C. Ruggieri M, et al. Childs Nerv Syst. 2020 Oct;36(10):2229-2268. doi: 10.1007/s00381-020-04758-5. Epub 2020 Sep 17. Childs Nerv Syst. 2020. PMID: 32940773
He later applied this concept: (a) to similar lesions in other organs (e.g. brain, heart and kidneys) (1932) and (b) to other disorders (i.e. von Hippel-Lindau disease and Sturge-Weber syndrome) (1933), and coined the term phakomatoses. At the same time, the American neuro …
He later applied this concept: (a) to similar lesions in other organs (e.g. brain, heart and kidneys) (1932) and (b) to other disorders (i.e …
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM. Yu KPT, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):208-217. doi: 10.1002/ajmg.c.31692. Epub 2019 Mar 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 30896080
RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML) …
RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell g …
22 results