173 related articles for article (PubMed ID: 7643367)
1. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Legius E; Wu R; Eyssen M; Marynen P; Fryns JP; Cassiman JJ
J Med Genet; 1995 Apr; 32(4):316-9. PubMed ID: 7643367
[TBL] [Abstract][Full Text] [Related]
2. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.
Rizzo R; Pavone L; Micali G; Nigro F; Cohen MM
Am J Med Genet; 1993 Oct; 47(5):653-5. PubMed ID: 8266992
[TBL] [Abstract][Full Text] [Related]
3. Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases.
Kocak O; Yarar C; Carman KB
Childs Nerv Syst; 2016 Mar; 32(3):559-62. PubMed ID: 26231568
[TBL] [Abstract][Full Text] [Related]
4. Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the
Smeijers S; Brems H; Verhaeghe A; van Paesschen W; van Loon J; Van der Auweraer S; Sciot R; Thal DR; Lagae L; Legius E; Theys T
J Med Genet; 2024 Jun; ():. PubMed ID: 38825366
[TBL] [Abstract][Full Text] [Related]
5. Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis.
MacLaren MJ; Kluijt I; Koole FD
Doc Ophthalmol; 1995; 90(1):87-98. PubMed ID: 8549249
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases.
Parazzini C; Triulzi F; Russo G; Mastrangelo M; Scotti G
AJNR Am J Neuroradiol; 1999 Jan; 20(1):173-6. PubMed ID: 9974077
[TBL] [Abstract][Full Text] [Related]
8. Brain anomalies in encephalocraniocutaneous lipomatosis.
Moog U; Jones MC; Viskochil DH; Verloes A; Van Allen MI; Dobyns WB
Am J Med Genet A; 2007 Dec; 143A(24):2963-72. PubMed ID: 18000987
[TBL] [Abstract][Full Text] [Related]
9. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.
Nowaczyk MJ; Mernagh JR; Bourgeois JM; Thompson PJ; Jurriaans E
Am J Med Genet; 2000 Apr; 91(4):261-6. PubMed ID: 10766980
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Encephalocraniocutaneous lipomatosis.
Moog U
J Med Genet; 2009 Nov; 46(11):721-9. PubMed ID: 19574261
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.
Gokhale NR; Mahajan PM; Belgaumkar VA; Pradhan SN; Uttarwar NS
Indian J Dermatol Venereol Leprol; 2007; 73(1):40-2. PubMed ID: 17314447
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.
Amor DJ; Kornberg AJ; Smith LJ
J Paediatr Child Health; 2000 Dec; 36(6):603-5. PubMed ID: 11115042
[TBL] [Abstract][Full Text] [Related]
17. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis.
Valladares MJ; Blanco MJ; Lopez-Lopez F; Gonzalez F
Eur J Paediatr Neurol; 2007 Mar; 11(2):108-10. PubMed ID: 17258481
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome.
Sant'Anna GD; Saffer M; Mauri M; Facco S; Raupp S
Int J Pediatr Otorhinolaryngol; 1999 Aug; 49(3):231-5. PubMed ID: 10519703
[TBL] [Abstract][Full Text] [Related]
20. Encephalocraniocutaneous lipomatosis.
Levy ML; Massey C
Handb Clin Neurol; 2015; 132():265-9. PubMed ID: 26564086
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]