Condition: Basal Cell Nevus Syndrome


rs1060502292 in LOC100507346;PTCH1 gene and Basal Cell Nevus Syndrome PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 8981943 1997 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.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

PMID 22952776 2012 Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

PMID 25131638 2014 Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.

rs1060502268 in PTCH1 gene and Basal Cell Nevus Syndrome PMID 12655573 2003 Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 16088933 2005 DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.

PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 24814739 2014 Manifestations of Gorlin-Goltz syndrome.

PMID 8981943 1997 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.

PMID 16508594 2006 [Clinical and genetic study in 22 patients with basal cell nevus syndrome].

PMID 9415689 1997 De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

PMID 8658145 1996 Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

PMID 17021131 2006 Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

PMID 11457640 2001 Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.

PMID 8681379 1996 Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

PMID 15459969 2004 Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 11231326 2001 Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 21304560 2011 Clinical utility gene card for: Gorlin syndrome.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

rs878853852 in PTCH1;LOC100507346 gene and Basal Cell Nevus Syndrome PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

rs121434397 in PTCH2 gene and Basal Cell Nevus Syndrome PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 18285427 2008 A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

PMID 23479190 2013 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 21304560 2011 Clinical utility gene card for: Gorlin syndrome.

rs1554841447 in SUFU gene and Basal Cell Nevus Syndrome PMID 22508808 2012 High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 21188540 2011 Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.