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Quoted phrase not found in phrase index: "Cowden syndrome 7"
Page 1
Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.
Galanopoulou AS, Gorter JA, Cepeda C. Galanopoulou AS, et al. Epilepsia. 2012 Jul;53(7):1119-30. doi: 10.1111/j.1528-1167.2012.03506.x. Epub 2012 May 11. Epilepsia. 2012. PMID: 22578218 Free PMC article. Review.
These include tuberous sclerosis, which is due to mutations in TSC1 or TSC2 genes; mutations in phosphatase and tensin homolog (PTEN) as in Cowden syndrome, polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (PMSE) due to mutations in the STE20-rel …
These include tuberous sclerosis, which is due to mutations in TSC1 or TSC2 genes; mutations in phosphatase and tensin homolog (PTEN) as in …
Streptococcal toxic shock syndrome following total thyroidectomy.
Hung JA, Rajeev P. Hung JA, et al. Ann R Coll Surg Engl. 2013 Oct;95(7):457-60. doi: 10.1308/003588413X13629960048118. Ann R Coll Surg Engl. 2013. PMID: 24112488 Free PMC article. Review.
We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome …
We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multi …
Lhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution.
Wang Q, Zhang S, Cheng J, Liu W, Hui X. Wang Q, et al. Clin Neurol Neurosurg. 2017 Nov;162:53-58. doi: 10.1016/j.clineuro.2017.09.007. Epub 2017 Sep 9. Clin Neurol Neurosurg. 2017. PMID: 28938107
PATIENTS AND METHODS: From January 2004 to May 2017, 12 LDD patients were enrolled in our study. The clinical and radiological features, treatment strategies and long-term follow-up data were retrospectively analyzed. RESULTS: The mean follow-up was 89.136.9 months (range, …
PATIENTS AND METHODS: From January 2004 to May 2017, 12 LDD patients were enrolled in our study. The clinical and radiological featur …
Short- and long-term outcomes for single-port risk-reducing salpingo-oophorectomy with and without hysterectomy for women at risk for gynecologic cancer.
Carr CE, Chambers L, Jernigan AM, Freeman L, Escobar PF, Michener CM. Carr CE, et al. Int J Gynecol Cancer. 2021 Feb;31(2):215-221. doi: 10.1136/ijgc-2020-001405. Epub 2020 Sep 18. Int J Gynecol Cancer. 2021. PMID: 32948638
RESULTS: In total, 187 single-port laparoscopic surgeries were performed with a median follow-up of 204 (IQR 25-749) days. BRCA1/2, Lynch syndrome, or Cowden syndrome was diagnosed in 64.0% of patients. Additionally, 32.1% had a personal history of breast can …
RESULTS: In total, 187 single-port laparoscopic surgeries were performed with a median follow-up of 204 (IQR 25-749) days. BRCA1/2, Lynch …
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Hum Genet. 2019 Mar 7;104(3):484-491. doi: 10.1016/j.ajhg.2019.01.015. Epub 2019 Feb 22. Am J Hum Genet. 2019. PMID: 30803705 Free PMC article. Clinical Trial.
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...We designed a non-randomized, phase 0/1 pilot study of miransertib in adults and children with Proteus syndrome to identify an app …
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...We d …
Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability.
Nizialek EA, Sankunny M, Niazi F, Eng C. Nizialek EA, et al. Nucleic Acids Res. 2016 May 5;44(8):3586-94. doi: 10.1093/nar/gkv1481. Epub 2015 Dec 15. Nucleic Acids Res. 2016. PMID: 26673699 Free PMC article.
Germline hypermethylation of KLLN, a gene uncovered well after the human genome project, has been linked to Cowden cancer-predisposition syndrome (CS) in PTEN wild-type cases. KLLN first identified as a p53-dependent tumor suppressor gene, was believed to bind ra …
Germline hypermethylation of KLLN, a gene uncovered well after the human genome project, has been linked to Cowden cancer-predisposit …
Double balloon enteroscopy in children: diagnosis, treatment, and safety.
Thomson M, Venkatesh K, Elmalik K, van der Veer W, Jaacobs M. Thomson M, et al. World J Gastroenterol. 2010 Jan 7;16(1):56-62. doi: 10.3748/wjg.v16.i1.56. World J Gastroenterol. 2010. PMID: 20039449 Free PMC article.
METHODS: Fourteen patients (10 males) with a median age of 12.9 years (range 8.1-16.7) underwent DBE; 5 for Peutz-Jeghers syndrome (PJ syndrome), 2 for chronic abdominal pain, 4 for obscure gastrointestinal (GI) bleeding, 2 with angiomatous malformations (1 b …
METHODS: Fourteen patients (10 males) with a median age of 12.9 years (range 8.1-16.7) underwent DBE; 5 for Peutz-Jeghers syndrome …
Sclerotic (fibroma-like) lipoma: a distinctive lipoma variant with a predilection for the distal extremities.
Laskin WB, Fetsch JF, Michal M, Miettinen M. Laskin WB, et al. Am J Dermatopathol. 2006 Aug;28(4):308-16. doi: 10.1097/00000372-200608000-00003. Am J Dermatopathol. 2006. PMID: 16871033
Microscopically, the lesions were well-circumscribed nodules that showed very low to moderately low cellularity and consisted of cytologically bland spindled and stellate-shaped cells and a minor component of randomly dispersed adipocytes embedded in a collagenous to myxoc …
Microscopically, the lesions were well-circumscribed nodules that showed very low to moderately low cellularity and consisted of cytological …
Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.
Schnur RE, Herzberg AJ, Spinner N, Kant JA, Magnusson M, McDonald-McGinn D, Rehberg K, Honig PJ, Zackai EH. Schnur RE, et al. J Am Acad Dermatol. 1993 Feb;28(2 Pt 2):364-70. J Am Acad Dermatol. 1993. PMID: 8436660 Review.
We describe a 2 1/2-year-old boy who has hirsutism and ringed creases of the extremities associated with an underlying smooth muscle hamartoma. Cutaneous findings in this child resemble those in other reports of the "Michelin tire syndrome." ...These cells were immu …
We describe a 2 1/2-year-old boy who has hirsutism and ringed creases of the extremities associated with an underlying smooth muscle hama …
Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy.
Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, Bellnier DA. Oseroff AR, et al. Arch Dermatol. 2005 Jan;141(1):60-7. doi: 10.1001/archderm.141.1.60. Arch Dermatol. 2005. PMID: 15655143
Interventions Twenty percent 5-aminolevulinic acid was applied to up to 22% of the body surface for 24 hours under occlusion. A dye laser and a lamp illuminated fields up to 7 cm and 16 cm in diameter, respectively; up to 36 fields were treated per session. ...RESULTS: Mor …
Interventions Twenty percent 5-aminolevulinic acid was applied to up to 22% of the body surface for 24 hours under occlusion. A dye laser an …
15 results