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Page 1
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F. Nuovo S, et al. J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23. J Endocrinol Invest. 2016. PMID: 26100530
The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. ...CONCLUSIONS: This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy a …
The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated …
Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.
Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D. Zajicek M, et al. Reprod Biomed Online. 2023 Jul;47(1):102-109. doi: 10.1016/j.rbmo.2023.03.004. Epub 2023 Mar 12. Reprod Biomed Online. 2023. PMID: 37120360
Thirty-seven patients 18 years with non-iatrogenic POI (27 with Turner syndrome, six with POI of unknown aetiology, three with galactosemia and one with blepharophimosis, ptosis, epicanthus inversus syndrome) were included. Three parameters were used to evaluate ovarian re …
Thirty-seven patients 18 years with non-iatrogenic POI (27 with Turner syndrome, six with POI of unknown aetiology, three with galactosemia …
Clinical and anatomical substantiation of levator resection in the complex surgical treatment of BPES.
Tronina SA, Bobrova NF, Khrinenko VP. Tronina SA, et al. Orbit. 2006 Mar;25(1):5-10. doi: 10.1080/01676830500543062. Orbit. 2006. PMID: 16527768
MATERIALS AND METHODS: 51 children (73 eyes) aged 3-16 years with BPES were operated on by the newly developed one-stage technique at the Pediatric Ophthalmology Department of the Filatov Institute of Eye Diseases and Tissue Therapy. The surgical technique included shorten …
MATERIALS AND METHODS: 51 children (73 eyes) aged 3-16 years with BPES were operated on by the newly developed one-stage technique at the Pe …
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-speci …
The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis …
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. ...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus invers …