221 related articles for article (PubMed ID: 30411536)
1. Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.
Gianferante DM; Rotunno M; Dean M; Zhou W; Hicks BD; Wyatt K; Jones K; Wang M; Zhu B; Goldstein AM; Mirabello L
Mol Genet Genomic Med; 2018 Nov; 6(6):1168-1180. PubMed ID: 30411536
[TBL] [Abstract][Full Text] [Related]
2. Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
Matsudate Y; Naruto T; Hayashi Y; Minami M; Tohyama M; Yokota K; Yamada D; Imoto I; Kubo Y
J Dermatol Sci; 2017 Jun; 86(3):206-211. PubMed ID: 28342698
[TBL] [Abstract][Full Text] [Related]
3. Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.
Hasan Ali O; Yurchenko AA; Pavlova O; Sartori A; Bomze D; Higgins R; Ring SS; Hartmann F; Bühler D; Fritzsche FR; Jochum W; Navarini AA; Kim A; French LE; Dermitzakis E; Christiano AM; Hohl D; Bickers DR; Nikolaev SI; Flatz L
J Eur Acad Dermatol Venereol; 2021 Feb; 35(2):396-402. PubMed ID: 32564428
[TBL] [Abstract][Full Text] [Related]
4. A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.
Durmaz CD; Evans G; Smith MJ; Ertop P; Akay BN; Tuncalı T
Cytogenet Genome Res; 2018; 154(2):57-61. PubMed ID: 29544218
[TBL] [Abstract][Full Text] [Related]
5. Nevoid Basal Cell Carcinoma Syndrome:
Martinez MF; Romano MV; Martinez AP; González A; Muchnik C; Stengel FM; Mazzuoccolo LD; Azurmendi PJ
Cells; 2019 Feb; 8(2):. PubMed ID: 30754660
[TBL] [Abstract][Full Text] [Related]
6.
Ponti G; Manfredini M; Pastorino L; Maccaferri M; Tomasi A; Pellacani G
Anticancer Res; 2018 Jan; 38(1):471-476. PubMed ID: 29277811
[TBL] [Abstract][Full Text] [Related]
7. Polydactyly Patient Carried a Mutation of
Cao R; Liu S; Chai W; Shen P
DNA Cell Biol; 2020 Oct; 39(10):1754-1759. PubMed ID: 32716646
[TBL] [Abstract][Full Text] [Related]
8. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.
Alonso N; Cañueto J; Ciria S; Bueno E; Palacios-Alvarez I; Alegre M; Badenas C; Barreiro A; Pena L; Maldonado C; Nespeira-Jato MV; Peña-Penabad C; Azon A; Gavrilova M; Ferrer I; Sanmartin O; Robles L; Hernandez-Martin A; Urioste M; Puig S; Puig L; Gonzalez-Sarmiento R
Br J Dermatol; 2018 Jan; 178(1):198-206. PubMed ID: 28733979
[TBL] [Abstract][Full Text] [Related]
9. Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
Kato C; Fujii K; Arai Y; Hatsuse H; Nagao K; Takayama Y; Kameyama K; Fujii K; Miyashita T
Fam Cancer; 2017 Jan; 16(1):131-138. PubMed ID: 27561271
[TBL] [Abstract][Full Text] [Related]
10. Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.
Rodrigues AL; Carvalho A; Cabral R; Carneiro V; Gilardi P; Duarte CP; Puente-Prieto J; Santos P; Mota-Vieira L
Genet Mol Res; 2014 Jul; 13(3):5654-63. PubMed ID: 25117323
[TBL] [Abstract][Full Text] [Related]
11. A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.
Zhou J; Zhang G; Shi M; Liu Z; Xiao M; Fu S; Gong X; Shi X
Med Mol Morphol; 2019 Dec; 52(4):235-237. PubMed ID: 30997576
[TBL] [Abstract][Full Text] [Related]
12. Somatic mosaicism containing double mutations in
Ikemoto Y; Takayama Y; Fujii K; Masuda M; Kato C; Hatsuse H; Fujitani K; Nagao K; Kameyama K; Ikehara H; Toyoda M; Umezawa A; Miyashita T
J Med Genet; 2017 Aug; 54(8):579-584. PubMed ID: 28363938
[TBL] [Abstract][Full Text] [Related]
13. [Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].
Mazzuoccolo LD; Martínez MF; Muchnik C; Azurmendi PJ; Stengel F
Medicina (B Aires); 2014; 74(4):307-10. PubMed ID: 25188659
[TBL] [Abstract][Full Text] [Related]
14. Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
Pan S; Dong Q; Sun LS; Li TJ
Clin Cancer Res; 2010 Jan; 16(2):442-50. PubMed ID: 20068110
[TBL] [Abstract][Full Text] [Related]
15. Pediatric nevoid basal cell carcinoma syndrome.
Pilkington S; McKinley LH; Miller RA
Cutis; 2017 Dec; 100(6):423-426. PubMed ID: 29360891
[TBL] [Abstract][Full Text] [Related]
16. Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression.
Hong Y; Zhang J; Zhang H; Li X; Qu J; Zhai J; Zhang L; Chen F; Li T
J Bone Miner Res; 2016 Jul; 31(7):1413-28. PubMed ID: 26890308
[TBL] [Abstract][Full Text] [Related]
17. Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.
Musani V; Ozretić P; Trnski D; Sabol M; Poduje S; Tošić M; Šitum M; Levanat S
Croat Med J; 2018 Feb; 59(1):20-24. PubMed ID: 29498494
[TBL] [Abstract][Full Text] [Related]
18. Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Barraud S; Delemer B; Poirsier-Violle C; Bouligand J; Mérol JC; Grange F; Higel-Chaufour B; Decoudier B; Zalzali M; Dwyer AA; Acierno JS; Pitteloud N; Millar RP; Young J
Neuroendocrinology; 2021; 111(1-2):99-114. PubMed ID: 32074614
[TBL] [Abstract][Full Text] [Related]
19. New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG; van Hout AF; Cosgun B; Paulussen AD; Leter EM; Steijlen PM; Mosterd K; van Geel M; Gille JJ
Mol Genet Genomic Med; 2018 May; 6(3):409-415. PubMed ID: 29575684
[TBL] [Abstract][Full Text] [Related]
20. PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY; Zhang JY; Li XF; Luo HY; Chen F; Li TJ
PLoS One; 2013; 8(10):e77305. PubMed ID: 24204797
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]