259 related articles for article (PubMed ID: 26942290)
1. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT; Tan TY; Alcantara D; Tétrault M; Timms AE; Jensen D; Collins S; Nowaczyk MJM; Lindhurst MJ; Christensen KM; Braddock SR; Brandling-Bennett H; Hennekam RCM; Chung B; Lehman A; Su J; Ng S; Amor DJ; ; ; Majewski J; Biesecker LG; Boycott KM; Dobyns WB; O'Driscoll M; Moog U; McDonell LM
Am J Hum Genet; 2016 Mar; 98(3):579-587. PubMed ID: 26942290
[TBL] [Abstract][Full Text] [Related]
2. Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.
Córdoba A; Graue-Hernández EO; Navas A; Chacon-Camacho OF; Zenteno JC; Ramirez-Miranda A; Bermudez-Magner JA; Ordaz-Robles T; Pérez-Solórzano S; Olivo-Payne A
Am J Case Rep; 2019 Oct; 20():1566-1571. PubMed ID: 31649234
[TBL] [Abstract][Full Text] [Related]
3. Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.
Kordacka J; Zakrzewski K; Gruszka R; Witusik-Perkowska M; Taha J; Sikorska B; Liberski PP; Zakrzewska M
Am J Med Genet A; 2019 Aug; 179(8):1622-1627. PubMed ID: 31173478
[TBL] [Abstract][Full Text] [Related]
4. Encephalocraniocutaneous Lipomatosis.
Bavle A; Shah R; Gross N; Gavula T; Ruiz-Elizalde A; Wierenga K; McNall-Knapp R
J Pediatr Hematol Oncol; 2018 Oct; 40(7):553-554. PubMed ID: 29683947
[TBL] [Abstract][Full Text] [Related]
5. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
Barry KK; Liang MG; Balkin DM; Srivastava S; Church AJ; Eng W
Pediatr Dermatol; 2024; 41(1):76-79. PubMed ID: 37486073
[TBL] [Abstract][Full Text] [Related]
6. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho OF; Lopez-Moreno D; Morales-Sanchez MA; Hofmann E; Pacheco-Quito M; Wieland I; Cortes-Gonzalez V; Villanueva-Mendoza C; Zenker M; Zenteno JC
Mol Genet Genomic Med; 2019 May; 7(5):e625. PubMed ID: 30891959
[TBL] [Abstract][Full Text] [Related]
7. Encephalocraniocutaneous lipomatosis.
Levy ML; Massey C
Handb Clin Neurol; 2015; 132():265-9. PubMed ID: 26564086
[TBL] [Abstract][Full Text] [Related]
8. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S; Bögershausen N; Hove HB; Percin EF; Aslan D; Dvorsky R; Kayhan G; Li Y; Cursiefen C; Tantcheva-Poor I; Toft PB; Bartsch O; Lissewski C; Wieland I; Jakubiczka S; Wollnik B; Ahmadian MR; Heindl LM; Zenker M
Clin Genet; 2016 Oct; 90(4):334-42. PubMed ID: 26970110
[TBL] [Abstract][Full Text] [Related]
9. Encephalocraniocutaneous Lipomatosis Without Ocular Malformations.
Radić Nišević J; Prpić I; Antulov R; Sasso A; Holjar Erlić I
Pediatr Neurol; 2016 Jul; 60():71-4. PubMed ID: 27131628
[TBL] [Abstract][Full Text] [Related]
10. Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.
Cattin J; Formet J; Sartelet H; Lenoir M; Riethmuller D; Collardeau-Frachon S
Pediatr Dev Pathol; 2022; 25(2):180-185. PubMed ID: 34547955
[TBL] [Abstract][Full Text] [Related]
11. Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
Valera ET; McConechy MK; Gayden T; Rivera B; Jones DTW; Wittmann A; Han H; Bareke E; Nikbakht H; Mikael L; Queiroz RG; Suazo VK; Phi JH; Kim SK; Park SH; Fukaya R; Yum MS; Ko TS; de Oliveira RS; Machado HR; Brassesco MS; do Santos AC; Simão GN; Ramalho LNZ; Neder L; Scrideli CA; Tone LG; Majewski J; Jabado N
Acta Neuropathol; 2018 Oct; 136(4):657-660. PubMed ID: 30143858
[No Abstract] [Full Text] [Related]
12. Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL.
Bieser S; Reis M; Guzman M; Gauvain K; Elbabaa S; Braddock SR; Abdel-Baki MS
Am J Med Genet A; 2015 Apr; 167A(4):878-81. PubMed ID: 25705862
[TBL] [Abstract][Full Text] [Related]
13. Encephalocraniocutaneous Lipomatosis: A Case Report.
Zaworski E; Gruber E; Regent-Smith A; Jones KL; Chalhoub MS; Lin K
Ann Plast Surg; 2024 Apr; 92(4):e29-e31. PubMed ID: 38527346
[TBL] [Abstract][Full Text] [Related]
14. Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.
Özdoğan S; Saymaz C; Yaltırık CK; Düzkalır HG; Kaya M; Demirel N; Düzkalır AH; Sarıkaya B; Aktekin B
Am J Case Rep; 2017 Dec; 18():1271-1275. PubMed ID: 29192135
[TBL] [Abstract][Full Text] [Related]
15. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
Moog U; Roelens F; Mortier GR; Sijstermans H; Kelly M; Cox GF; Robson CD; Kimonis VE
Am J Med Genet A; 2007 Dec; 143A(24):2973-80. PubMed ID: 18000896
[TBL] [Abstract][Full Text] [Related]
16. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature.
Hauber K; Warmuth-Metz M; Rose C; Bröcker EB; Hamm H
Eur J Pediatr; 2003 Sep; 162(9):589-93. PubMed ID: 12884033
[TBL] [Abstract][Full Text] [Related]
17. Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.
Delfino LN; Fariello G; Quattrocchi CC; Aiello C; Menchini L; Devito R; Zama M; Claps D; Vigevano F; Longo D
Am J Med Genet A; 2011 Jul; 155A(7):1690-6. PubMed ID: 21626669
[TBL] [Abstract][Full Text] [Related]
18. Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
McDonell LM; Leung GK; Daoud H; Ip J; Chim S; Luk HM; Lan L; ; Boycott KM; Chung BH
Am J Med Genet A; 2018 Nov; 176(11):2523-2527. PubMed ID: 30289595
[No Abstract] [Full Text] [Related]
19. Lipomatosis encefalocraneocutánea: reporte de caso.
Muñoz-Montufar JP; Rayo-Mares JD; Reyes-Cuayahuitl A; Pacheco-Rosas DO; Rangel-Ramírez MP
Gac Med Mex; 2017; 153(7):915-918. PubMed ID: 29414957
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
