140 related articles for article (PubMed ID: 34435383)
1. Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation.
Blanco Portals C; Gómez Tellado M; Del Pozo Losada J; Rodríguez Ruiz M
Clin Exp Dermatol; 2022 Jan; 47(1):235-239. PubMed ID: 34435383
[TBL] [Abstract][Full Text] [Related]
2. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.
Nagatsuma M; Takasawa K; Yamauchi T; Nakagawa R; Mizuno T; Tanaka E; Yamamoto K; Uemura N; Kashimada K; Morio T
J Hum Genet; 2019 Feb; 64(2):177-181. PubMed ID: 30443000
[TBL] [Abstract][Full Text] [Related]
3. Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.
Ono H; Yamaguchi R; Arai M; Togi S; Ura H; Niida Y; Shimizu A
J Dermatol; 2023 Sep; 50(9):1213-1215. PubMed ID: 37170693
[TBL] [Abstract][Full Text] [Related]
4. Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic
Park PG; Park E; Hyun HS; Kang HG; Ha IS; Cho TJ; Ko JM; Cheong HI
Ann Clin Lab Sci; 2018 Sep; 48(5):665-669. PubMed ID: 30373874
[TBL] [Abstract][Full Text] [Related]
5. Expanding mutational spectrum of HRAS by a patient with Schimmelpenning-Feuerstein-Mims syndrome.
Luo Q; Zhang Q; Shen J; Guan W; Li M; Zhang J; Tan Z
J Dermatol; 2021 Aug; 48(8):1273-1276. PubMed ID: 34109654
[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. A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation.
Mitchell BJ; Rogers GF; Wood BC
J Craniofac Surg; 2019 Jan; 30(1):184-185. PubMed ID: 30394973
[TBL] [Abstract][Full Text] [Related]
8. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
Groesser L; Herschberger E; Ruetten A; Ruivenkamp C; Lopriore E; Zutt M; Langmann T; Singer S; Klingseisen L; Schneider-Brachert W; Toll A; Real FX; Landthaler M; Hafner C
Nat Genet; 2012 Jun; 44(7):783-7. PubMed ID: 22683711
[TBL] [Abstract][Full Text] [Related]
9. Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome.
Kapoor S; Scanga HL; Reyes-Múgica M; Nischal KK
Am J Med Genet A; 2021 Dec; 185(12):3825-3830. PubMed ID: 34254724
[TBL] [Abstract][Full Text] [Related]
10. Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and
Yeager LB; Casper DS; Del Portillo A; Marr BP
Ophthalmic Genet; 2023 Dec; ():1-6. PubMed ID: 38097938
[TBL] [Abstract][Full Text] [Related]
11. Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.
Hsu CK; Saito R; Nanda A; Rashidghamat E; Al-Ajmi H; Lee JY; Hide M; McGrath JA
Australas J Dermatol; 2017 Feb; 58(1):58-60. PubMed ID: 26400620
[TBL] [Abstract][Full Text] [Related]
12. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.
Rijntjes-Jacobs EG; Lopriore E; Steggerda SJ; Kant SG; Walther FJ
Am J Med Genet A; 2010 Nov; 152A(11):2816-9. PubMed ID: 20949522
[TBL] [Abstract][Full Text] [Related]
13. Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report.
Chiang MC; McDowell MM; Weaver K; Broniscer A; Greene S
Pediatr Neurosurg; 2019; 54(3):201-206. PubMed ID: 30879010
[TBL] [Abstract][Full Text] [Related]
14. Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.
Pan C; Zhou X; Hong A; Fang F; Wang Y
BMC Med Genomics; 2020 Dec; 13(1):188. PubMed ID: 33308209
[TBL] [Abstract][Full Text] [Related]
15. KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.
Wang H; Qian Y; Wu B; Zhang P; Zhou W
BMC Med Genet; 2015 Oct; 16():101. PubMed ID: 26521233
[TBL] [Abstract][Full Text] [Related]
16. Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus.
Cranwell WC; Walsh M; Winship I
Australas J Dermatol; 2019 Aug; 60(3):e245-e246. PubMed ID: 30767209
[No Abstract] [Full Text] [Related]
17. Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Chang CA; Perrier R; Kurek KC; Estrada-Veras J; Lehman A; Yip S; Hendson G; Diamond C; Pinchot JW; Tran JM; Arkin LM; Drolet BA; Napier MP; O'Neill SA; Balci TB; Keppler-Noreuil KM
Am J Med Genet A; 2021 Sep; 185(9):2829-2845. PubMed ID: 34056834
[TBL] [Abstract][Full Text] [Related]
18. Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.
Friedrich RE; Gosau M; Luebke AM; Hagel C; Kohlrusch FK; Hahn M; VON Kroge S; Hahn J; Wieland I; Zenker M
In Vivo; 2022; 36(1):274-293. PubMed ID: 34972725
[TBL] [Abstract][Full Text] [Related]
19. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.
Schmidt J; Kaulfuß S; Ott H; Gaubert M; Reintjes N; Bremmer F; Dreha-Kulaczewski S; Stroebel P; Yigit G; Wollnik B
Hum Genet; 2024 Feb; 143(2):159-168. PubMed ID: 38265560
[TBL] [Abstract][Full Text] [Related]
20. [Schimmelpenning-Feuerstein-Mims syndrome: a case report].
Bahloul E; Abid I; Masmoudi A; Makni S; Kamoun F; Boudawara T; Triki C; Turki H
Arch Pediatr; 2015 Nov; 22(11):1157-62. PubMed ID: 26320679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
