216 related articles for article (PubMed ID: 33960642)
1. Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD; Cheetham SW; McGill JJ; Sharkey M; Walker R; West JA; West MJ; Summers KM
Am J Med Genet A; 2021 Jul; 185(7):2070-2083. PubMed ID: 33960642
[TBL] [Abstract][Full Text] [Related]
2. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Garavelli L; Piemontese MR; Cavazza A; Rosato S; Wischmeijer A; Gelmini C; Albertini E; Albertini G; Forzano F; Franchi F; Carella M; Zelante L; Superti-Furga A
Am J Med Genet A; 2013 Nov; 161A(11):2894-901. PubMed ID: 24124115
[TBL] [Abstract][Full Text] [Related]
3. Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B; Prada E; Tolva G; Scuvera G; Silipigni R; Graziani D; Bulfamante G; Gervasini C; Marchisio P; Milani D
Mol Genet Genomic Med; 2020 Jan; 8(1):e987. PubMed ID: 31578813
[TBL] [Abstract][Full Text] [Related]
4. Basal Cell Nevus (Gorlin) Syndrome with a Novel Heterozygous Deletion Frameshift Mutation (C.959delc, P.val322 Phe Fsx2) in the Ptch1 Gene Associated with Epiretinal Membrane, Odontogenic Keratocysts and without Skin Lesions and Falx Cerebri Calcification.
Akaltun A; Eroz R; Dogan M; Bolu S; Onder HI; Onbas O; Kocabay K
Genet Couns; 2016; 27(2):259-62. PubMed ID: 29485834
[No Abstract] [Full Text] [Related]
5. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Muller EA; Aradhya S; Atkin JF; Carmany EP; Elliott AM; Chudley AE; Clark RD; Everman DB; Garner S; Hall BD; Herman GE; Kivuva E; Ramanathan S; Stevenson DA; Stockton DW; Hudgins L
Am J Med Genet A; 2012 Feb; 158A(2):391-9. PubMed ID: 22190277
[TBL] [Abstract][Full Text] [Related]
6. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Yamamoto K; Yoshihashi H; Furuya N; Adachi M; Ito S; Tanaka Y; Masuno M; Chiyo H; Kurosawa K
Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
[TBL] [Abstract][Full Text] [Related]
7. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
Boonen SE; Stahl D; Kreiborg S; Rosenberg T; Kalscheuer V; Larsen LA; Tommerup N; Brøndum-Nielsen K; Tümer Z
Am J Med Genet A; 2005 Jan; 132A(3):324-8. PubMed ID: 15690381
[TBL] [Abstract][Full Text] [Related]
8. Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome.
Kaibuchi-Ando K; Takeichi T; Ito Y; Takeuchi S; Yamashita Y; Yamada M; Muro Y; Ogi T; Akiyama M
Nagoya J Med Sci; 2021 May; 83(2):393-396. PubMed ID: 34239189
[TBL] [Abstract][Full Text] [Related]
9. A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter.
Yamada H; Shimura M; Takahashi H; Nara S; Morishima Y; Go S; Miyashita T; Numabe H; Kawashima H
Eur J Med Genet; 2020 May; 63(5):103872. PubMed ID: 32028043
[TBL] [Abstract][Full Text] [Related]
10. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R; Gailani MR; Siu VM; Yang-Feng T; Pressman CL; Levanat S; Goldstein A; Dean M; Bale AE
Am J Hum Genet; 1996 Aug; 59(2):417-22. PubMed ID: 8755929
[TBL] [Abstract][Full Text] [Related]
11. Investigation of chromosome 9q22.3-q31 DNA marker loss in odontogenic keratocysts.
Lench NJ; High AS; Markham AF; Hume WJ; Robinson PA
Eur J Cancer B Oral Oncol; 1996 May; 32B(3):202-6. PubMed ID: 8762878
[TBL] [Abstract][Full Text] [Related]
12. Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.
Sinha S; Singh RK; Alam N; Roy A; Roychoudhury S; Panda CK
Mol Cancer; 2008 Nov; 7():84. PubMed ID: 18990233
[TBL] [Abstract][Full Text] [Related]
13. Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Hubacek M; Kripnerova T; Nemcikova M; Krepelová A; Puchmajerova A; Malikova M; Havlovicová M; Cadova J; Kodet R; Macek M; Dostalova T
Neuro Endocrinol Lett; 2016 Sep; 37(4):269-276. PubMed ID: 27857042
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
Musani V; Cretnik M; Situm M; Basta-Juzbasic A; Levanat S
Dermatology; 2009; 219(2):111-8. PubMed ID: 19439922
[TBL] [Abstract][Full Text] [Related]
16. Clinical features of microdeletion 9q22.3 (pat).
Shimojima K; Adachi M; Tanaka M; Tanaka Y; Kurosawa K; Yamamoto T
Clin Genet; 2009 Apr; 75(4):384-93. PubMed ID: 19320658
[TBL] [Abstract][Full Text] [Related]
17. Nevoid basal cell carcinoma (Gorlin) syndrome.
Gorlin RJ
Genet Med; 2004; 6(6):530-9. PubMed ID: 15545751
[No Abstract] [Full Text] [Related]
18. Expression of calretinin in odontogenic keratocysts and basal cell carcinomas: A study of sporadic and Gorlin-Goltz syndrome-related cases.
Cesinaro AM; Burtini G; Maiorana A; Rossi G; Migaldi M
Ann Diagn Pathol; 2020 Apr; 45():151472. PubMed ID: 31982676
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]