| 1 | DEL9Q22, NBCCS2, PTCH1
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| 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.
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| 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.
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| Am J Med Genet A m J Med Genet A. 2013 Oct 7. doi: 10.1002/ajmg.a.36259. [Epub ahead of print] 2013
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| 2 | NBCCS2, PTCH1
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| Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
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| Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, Bruno W, Giusti F, Bassoli S, Bianchi-Scarrŕ G, Ruini C, Seidenari S, Tomasi A, Ponti G.
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| PLoS One 7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27. 2012
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| 3 | NBCCS2, PTCH1
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| A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.
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| Zhang T, Chen M, Lü Y, Xing Q, Chen W.
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| Biochem Biophys Res Commun 409(2):166-70. Epub 2011 Apr 13. 2011
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| 4 | NBCCS2, PTCH1
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| Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
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| Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J.
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| Eur J Med Genet 51(5):472-8. Epub 2008 May 2. 2008
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| 5 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 6 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
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| Nowakowska B, Kutkowska-Kazmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW.
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| Am J Med Genet A 143(16):1885-9. 2007
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| 7 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
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| Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W.
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| Prenat Diagn 26(8):725-9. 2006
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| 8 | NBCCS2, PTCH1
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| Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
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| Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z.
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| Tumour Biol 27(4):175-80. Epub 2006 May 2. 2006
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| 9 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
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| Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brondum-Nielsen K, Tumer Z.
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| Am J Med Genet A 132(3):324-8. 2005
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| 10 | BHDS, CYLD, MFT, MFT2, MHAM, MTS, MTS2, NBCCS2
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| Genetics of skin appendage neoplasms and related syndromes.
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| Lee DA, Grossman ME, Schneiderman P, Celebi JT.
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| J Med Genet 42(11):811-9. 2005
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| 11 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 12 | NBCCS2
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| Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
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| Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B.
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| Genet Med 6(6):495-502. 2004
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| 13 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
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| Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C.
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| Eur J Pediatr 162(2):100-3. Epub 2002 Dec 10. 2003
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| 14 | NBCCS2, PTCH1
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| Detection of loss of heterozygosity on chromosome 9q22.3 in microdissected sporadic basal cell carcinoma.
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| Shen T, et al.
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| Hum Pathol 30(3):284-7. 1999
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| 15 | NBCCS2, PTCH1
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| Overexpression of the human homologue of Drosophila patched (PTCH) in skin tumours: specificity for basal cell carcinoma.
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| Nagano T, et al.
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| Br J Dermatol 140(2):287-290. 1999
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| 16 | NBCCS2, PTCH1
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| Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma.
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| Vortmeyer AO, et al.
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| Cancer 85(12):2662-7. 1999
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| 17 | NBCCS2, PTCH1
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| Variable expressivity of patched mutations in flies and humans.
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| Bale AE.
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| Am J Hum Genet 60 : 10-12. 1997
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| 18 | NBCCS2, PTCH1
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| Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
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| Wicking C, et al.
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| Am J Hum Genet 60 : 21-26. 1997
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| 19 | NBCCS2, ZNF169
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| Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3.
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| Chidambaram A, et al.
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| Genes Chromosomes Cancer 18 : 212-218. 1997
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| 20 | NBCCS2, PTCH1
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| Sporadic medulloblastomas contain PTCH mutations.
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| Raffel C, et al.
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| Cancer Res 57 : 842-845. 1997
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| 21 | NBCCS2, PTCH1
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| Physical mapping of the 5 Mb D9S196-D9S180 interval harboring the basal cell nevus syndrome gene and localization of six genes in this region.
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| Xie J, Quinn A, Zhang X, Bare J, Rothman A, Collins C, Cutone S, Rutter M, McCormick MK, Epstein E Jr.
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| Genes Chromosomes Cancer 18(4):305-9. 1997
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| 22 | FANCC, NBCCS2, ZNF169
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| Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region.
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| Levanat S, Chidambaram A, Wicking C, Bray-Ward P, Pressman C, Toftgard R, Gailani MR, Myers JC, Wainwright B, Dean M, Bale AE.
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| Cytogenet Cell Genet 76(3-4):208-13. 1997
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| 23 | NBCCS2, PTCH1
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| Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched.
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| Pietsch T, Waha A, Koch A, Kraus J, Albrecht S, Tonn J, Sorensen N, Berthold F, Henk B, Schmandt N, Wolf HK, von Deimling A, Wainwright B, Chenevix-Trench G, Wiestler OD, Wicking C.
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| Cancer Res 57(11):2085-8. 1997
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| 24 | NBCCS2, PTCH1
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| Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
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| Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G.
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| Cancer Res 57(13):2581-5. 1997
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| 25 | NBCCS2, PTCH1
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| The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
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| Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG.
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| Br J Cancer 76(2):141-5. 1997
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| 26 | NBCCS2, PTCH1
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| Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
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| Lench NJ, Telford EA, High AS, Markham AF, Wicking C, Wainwright BJ.
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| Hum Genet 100(5-6):497-502. 1997
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| 27 | NBCCS2, PTCH1
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| De novo mutations of the patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.
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| Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G.
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| Am J Med Genet 73(3):304-7. 1997
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| 28 | NBCCS2
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| Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
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| Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ.
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| Am J Med Genet 69(3):299-308. Review. 1997
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| 29 | NBCCS2
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| A two-hit model for developmental defects in Gorlin syndrome.
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| Levanat S, et al.
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| Nat Genet 12 : 85-87. 1996
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| 30 | BRINP1, NBCCS2, PTCH1
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| Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
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| Johnson RL, et al.
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| Science 272 : 1668-1671. 1996
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| 31 | BRINP1, NBCCS2, PTCH1
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| Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
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| Hahn H, et al.
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| Cell 85 : 841-851. 1996
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| 32 | NBCCS2
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| A high-resolution radiation hybrid map of the region surrounding the Gorlin syndrome gene.
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| Obermayr F, et al.
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| Eur J Hum Genet 4 : 242-245. 1996
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| 33 | NBCCS2
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| Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
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| Shimkets R, et al.
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| Am J Hum Genet 59 : 417-422. 1996
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| 34 | NBCCS2, PTCH1
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| Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer.
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| Holmberg E, et al.
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| Br J Cancer 74 : 246-250. 1996
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| 35 | NBCCS2, PTCH1
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| The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
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| Gailani MR, et al.
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| Nat Genet 14 : 78-81. 1996
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| 36 | NBCCS2, PTCH1
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| Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
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| Chidambaram A, et al.
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| Cancer Res 56 : 4599-4601. 1996
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| 37 | NBCCS2, PTCH1
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| Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome : different in vivo mechanisms of PTCH inactivation.
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| Unden AB, et al.
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| Cancer Res 56 : 4562-4565. 1996
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| 38 | NBCCS2, PTCH1
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| Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas.
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| Shanley SM, et al.
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| Hum Mol Genet 4 : 129-133. 1995
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| 39 | NBCCS2
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| Loss of heterozygosity in basal cell carcinomas for chromosome 9q21 suggests a candidate region for the nevoid basal cell carcinoma syndrome gene between D9S287 and D9S180. (abstract).
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| Shanley S, et al.
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| Ann Hum Genet 59 : 381. 1995
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| 40 | GAS1, NBCCS2
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| The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome.
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| Wicking C, et al.
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| Cytogenet Cell Genet 68 : 119-121. 1995
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| 41 | NBCCS2, PTCH1
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| Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients.
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| Bonifas JM, et al.
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| Hum Mol Genet 3 : 447-448. 1994
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| 42 | NBCCS2
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| Nevoid basal cell carcinoma syndrome : review of 118 affected individuals.
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| Shanley S, et al.
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| Am J Med Genet 50 : 282-290. 1994
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| 43 | NBCCS2
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| Localization of the gene for the nevoid basal cell carcinoma syndrome.
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| Goldstein AM, et al.
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| Am J Hum Genet 54 : 765-773. 1994
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| 44 | NBCCS2
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| Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.
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| Wicking C, et al.
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| Genomics 22 : 505-511. 1994
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| 45 | FANCC, NBCCS2, XPA
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| A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q.
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| Morris DJ, et al.
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| Genomics 23 : 23-29. 1994
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| 46 | FANCC, MSSE, NBCCS2, XPA
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| Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.
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| Farndon PA, et al.
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| Genomics 23 : 486-489. 1994
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| 47 | NBCCS2
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| Towards the refinement in the localization of the Basal Cell Naevus syndrome gene by linkage analysis and an integrated linkage map of the 9q31 area. (abstr)
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| Bare JW, et al.
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| Ann Hum Genet 58 : 202. 1994
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| 48 | COL15A1, NBCCS2
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| Fine mapping of COL15A1 within the Gorlin syndrome region. (abstr)
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| Gailani M, et al.
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| Ann Hum Genet 58 : 212. 1994
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| 49 | NBCCS2
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| Physical studies of the region encompassing D9S151 and D9S180. (abstr)
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| Wicking C, et al.
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| Ann Hum Genet 58 : 240. 1994
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| 50 | MSSE, NBCCS2, PTCH1, TSG9A
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| Delineation of two distinct deleted regions on chromosome 9 in human non-melanoma skin cancers.
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| Quinn AG, et al.
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| Genes Chromosomes Cancer 11 : 222-225. 1994
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| 51 | NBCCS2, PTCH1
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| Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity.
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| Chenevix-Trench G, et al.
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| Am J Hum Genet 53 : 760-767. 1993
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| 52 | D9S105, D9S114, D9S62, NBCCS2
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| Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993.
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| Kwiatkowski DJ, et al.
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| Cytogenet Cell Genet 64(2):93-121. 1993
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| 53 | NBCCS2
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| Location of gene for Gorlin syndrome.
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| Farndon PA, et al.
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| Lancet 339 : 581-582. 1992
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| 54 | NBCCS2
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| Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.
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| Gailani MR, et al.
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| Cell 69 : 111-117. 1992
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| 55 | NBCCS2
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| Basal cell nevus syndrome : linkage studies at chromosome 9q.
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| Bare JW, et al.
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| Am J Hum Genet 51 : A57. 1992
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| 56 | NBCCS2
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| Localisation of the gene for Gorlin (nevoid cell carcinoma) syndrome.
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| Farndon PA, et al.
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| Am J Hum Genet 51 : A59. 1992
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| 57 | NBCCS2
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| Fine mapping of the Gorlin syndrome gene on chromosome 9q by tumor deletion analysis.
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| Gailani MR, et al.
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| Am J Hum Genet 51 : A59. 1992
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| 58 | NBCCS2
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| Fine mapping of basal cell nevus syndrome (NBCC) to chromosome 9q in three families.
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| Compton JG, et al.
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| Am J Hum Genet 51 : A185. 1992
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| 59 | NBCCS2
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| Linkage analysis of the nevoid basal cell carcinoma syndrome (NBCCS).
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| Goldstein AM, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1853. 1991
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| 60 | NBCCS2
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| Exclusion data for the naevoid basal cell carcinoma syndrome (Gorlin syndrome) on chromosome 1.
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| Farndon PA, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 997. 1989
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| 61 | NBCCS2
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| Linkage analysis of naevoid basal cell carcinoma syndrome (Gorlin syndrome).
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| Kilpatrick MW, et al.
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| Am J Hum Genet 45 : A146. 1989
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| 62 | NBCCS2
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| Basal cell naevus syndrome and N-ras polymorphism.
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| McConville CM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 660. 1987
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| 63 | NBCCS2, PTCH2
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| Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S.
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