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Quoted phrase not found in phrase index: "Carney complex type 2"
Page 1
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated wi …
Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor ne …
High-performance brain-to-text communication via handwriting.
Willett FR, Avansino DT, Hochberg LR, Henderson JM, Shenoy KV. Willett FR, et al. Nature. 2021 May;593(7858):249-254. doi: 10.1038/s41586-021-03506-2. Epub 2021 May 12. Nature. 2021. PMID: 33981047 Free PMC article.
To our knowledge, these typing speeds exceed those reported for any other BCI, and are comparable to typical smartphone typing speeds of individuals in the age group of our participant (115 characters per minute)(8). Finally, theoretical considerations explain why temporally c …
To our knowledge, these typing speeds exceed those reported for any other BCI, and are comparable to typical smartphone typing speeds of ind …
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.
These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect) and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome and Carney compl …
These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigme …
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA. Raygada M, et al. Adv Otorhinolaryngol. 2011;70:99-106. doi: 10.1159/000322484. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358191 Free PMC article. Review.
Up to 35% of these tumors may be hereditary; they are associated with germline mutations in genes encoding subunits of the succinate dehydrogenase (SDH) enzyme complex in the context of the familial PGL syndromes, PGL1, 3 and 4 caused by mutations in the SDHD,SDHC and SDHB …
Up to 35% of these tumors may be hereditary; they are associated with germline mutations in genes encoding subunits of the succinate dehydro …
Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA. Ladd R, et al. Clin Dermatol. 2020 Jul-Aug;38(4):432-454. doi: 10.1016/j.clindermatol.2020.03.007. Epub 2020 Mar 30. Clin Dermatol. 2020. PMID: 32972602 Review.
Carney complex and lentiginosis.
Horvath A, Stratakis CA. Horvath A, et al. Pigment Cell Melanoma Res. 2009 Oct;22(5):580-7. doi: 10.1111/j.1755-148X.2009.00613.x. Epub 2009 Jul 24. Pigment Cell Melanoma Res. 2009. PMID: 19650827 Free PMC article. Review.
Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple neoplasia syndrome involving skin and cardiac myxomas, pigmented skin lesions and endocrine t …
Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (C …
Multiple endocrine neoplasias.
Hoff AO, Cote GJ, Gagel RF. Hoff AO, et al. Annu Rev Physiol. 2000;62:377-411. doi: 10.1146/annurev.physiol.62.1.377. Annu Rev Physiol. 2000. PMID: 10845096 Review.
They include multiple endocrine neoplasia types 1 and 2, von Hippel Lindau syndrome, neurofibromatosis, and Carney complex. Research over the past decade has identified a molecular basis for each of these syndromes. ...
They include multiple endocrine neoplasia types 1 and 2, von Hippel Lindau syndrome, neurofibromatosis, and Carney complex. Re …
Hereditary and familial thyroid tumours.
Guilmette J, Nosé V. Guilmette J, et al. Histopathology. 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. Histopathology. 2018. PMID: 29239041 Review.
Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial …
Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis …
Medical and Surgical Management of Carney Complex.
Siordia JA. Siordia JA. J Card Surg. 2015 Jul;30(7):560-7. doi: 10.1111/jocs.12575. Epub 2015 May 21. J Card Surg. 2015. PMID: 25996461 Review.
Carney complex is a rare, autosomal dominant genetic disorder that consists of multiple myxomatous lesions and endocrine abnormalities, including skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical disease, and acromegaly. This review discusses t …
Carney complex is a rare, autosomal dominant genetic disorder that consists of multiple myxomatous lesions and endocrine abnor …
Endocrine cancer syndromes: an update.
Anik A, Abaci A. Anik A, et al. Minerva Pediatr. 2014 Dec;66(6):533-47. Epub 2014 Sep 22. Minerva Pediatr. 2014. PMID: 25243504 Review.
Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Multiple Endocrine Neoplasia type 4 (MEN4) syndromes, and inherited syndromes with different endocrine neoplasms (von Hippel-Lindau disease, …
Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Mul …
223 results