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1990 3
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64 results

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Page 1
Overgrowth syndromes.
Neylon OM, Werther GA, Sabin MA. Neylon OM, et al. Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. Curr Opin Pediatr. 2012. PMID: 22705997 Review.
As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or …
As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from t …
The challenges of Proteus syndrome: diagnosis and management.
Biesecker L. Biesecker L. Eur J Hum Genet. 2006 Nov;14(11):1151-7. doi: 10.1038/sj.ejhg.5201638. Epub 2006 Aug 2. Eur J Hum Genet. 2006. PMID: 16883308 Review.
The benefit of strict criteria is that they define a clinical group that is reasonably homogenous with respect to manifestations and prognosis. The overgrowth of PS is progressive and can be difficult to manage. ...
The benefit of strict criteria is that they define a clinical group that is reasonably homogenous with respect to manifestations and prog …
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA. Geister KA, et al. Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22. Annu Rev Genomics Hum Genet. 2015. PMID: 25939055 Free PMC article. Review.
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design....
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk predict …
Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
Flores-Sarnat L, Sarnat HB. Flores-Sarnat L, et al. Handb Clin Neurol. 2015;132:9-25. doi: 10.1016/B978-0-444-62702-5.00002-0. Handb Clin Neurol. 2015. PMID: 26564069 Review.
In some ENS phenotypes the association of melanocytic nevi with keratinocytic and sebaceous nevi, all sharing RAS mutations, predicts multisystemic involvement, in particular severe rickets and osseous anomalies. ...
In some ENS phenotypes the association of melanocytic nevi with keratinocytic and sebaceous nevi, all sharing RAS mutations, predicts …
Proteus syndrome.
Bilkay U, Tokat C, Ozek C, Gundogan H, Erdem O, Gurler T, Cagdas A. Bilkay U, et al. Scand J Plast Reconstr Surg Hand Surg. 2003;37(5):307-10. doi: 10.1080/02844310310000446. Scand J Plast Reconstr Surg Hand Surg. 2003. PMID: 14649692
The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic and incompletely delineated syndrome, the patients must be followed up because of the possible risk of neoplasms....
The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic …
Quantification of Proteus syndrome-associated lung disease.
Ours CA, Buser A, Hodges MB, Chen MY, Sapp JC, Gochuico BR, Biesecker LG. Ours CA, et al. Orphanet J Rare Dis. 2024 Feb 6;19(1):44. doi: 10.1186/s13023-023-03013-9. Orphanet J Rare Dis. 2024. PMID: 38321508 Free PMC article.
Dyspnea and oxygen use were each associated with higher CLS (p = 0.001 and < 0.001, respectively) and higher CVS (p < 0.001 and < 0.001). Decreases in percent predicted FVC, FEV(1), and DLCO each correlated with increased CLS and CVS. ...

Dyspnea and oxygen use were each associated with higher CLS (p = 0.001 and < 0.001, respectively) and higher CVS (p < 0.001 and < 0

…
Ophthalmic manifestations and treatments of proteus syndrome: a case report and systematic review.
Jia RB, Wang YF, Jia RB. Jia RB, et al. Eur Rev Med Pharmacol Sci. 2023 Nov;27(21):10313-10321. doi: 10.26355/eurrev_202311_34306. Eur Rev Med Pharmacol Sci. 2023. PMID: 37975355 Free article.
In this study, we aimed to describe the ophthalmic characteristics and the clinical course of an unusual PS patient to acquire a comprehensive and intensive understanding of ocular PS and highlight the importance of collaborative treatment by ophthalmologists. ...More impo …
In this study, we aimed to describe the ophthalmic characteristics and the clinical course of an unusual PS patient to acquire a comp …
Recent advances in the study of somatic mosaicism and diseases other than cancer.
Erickson RP. Erickson RP. Curr Opin Genet Dev. 2014 Jun;26:73-8. doi: 10.1016/j.gde.2014.06.001. Epub 2014 Jul 20. Curr Opin Genet Dev. 2014. PMID: 25050467 Review.
In particular, for many diseases of somatic overgrowth in which somatic mosaicism as the sole cause was predicted, the gene somatically mutated has been found. A limited number of pathways seem involved in these disorders, some of which are also implicated in cancer....
In particular, for many diseases of somatic overgrowth in which somatic mosaicism as the sole cause was predicted, the gene somatical …
Myocardial fat overgrowth in Proteus syndrome.
Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM. Hannoush H, et al. Am J Med Genet A. 2015 Jan;167A(1):103-10. doi: 10.1002/ajmg.a.36773. Epub 2014 Nov 6. Am J Med Genet A. 2015. PMID: 25377688 Free PMC article.
Further evaluation of a larger number of Proteus patients is needed in order to determine the frequency and prognosis of cardiac involvement. Published 2014. This article is a U.S. ...
Further evaluation of a larger number of Proteus patients is needed in order to determine the frequency and prognosis of cardiac invo …
Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.
Qaisar F, Butt NI, Ajmal Ghoauri MS, Azhar M, Javed MU, Samad A. Qaisar F, et al. J Ayub Med Coll Abbottabad. 2023 Feb-Mar;35(1):177-179. doi: 10.55519/JAMC-01-11210. J Ayub Med Coll Abbottabad. 2023. PMID: 36849404 Free article.
She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions....
She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrenc …
64 results