A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome
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[1] D. Calva,et al. Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23 , 2012, Clinical genetics.
[2] P. Dennis,et al. PTEN hamartoma tumor syndromes , 2008, European Journal of Human Genetics.
[3] N. de Leeuw,et al. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes , 2008, Clinical genetics.
[4] F. Chibon,et al. Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach , 2008, Journal of Medical Genetics.
[5] D. Leeuw. Variable phenotypes associated with 10 q 23 microdeletions involving the PTEN and BMPR 1 A genes , 2008 .
[6] Daniel Birnbaum,et al. Integrated profiling of basal and luminal breast cancers. , 2007, Cancer research.
[7] R. Siebert,et al. High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome , 2007, Journal of Medical Genetics.
[8] I. Temple,et al. Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers , 2007, Journal of Medical Genetics.
[9] R. Tenconi,et al. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. , 2006, American journal of human genetics.
[10] J. Vermeesch,et al. Reply to Salviati et al. , 2006 .
[11] J. Vermeesch,et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. , 2006, American journal of human genetics.
[12] Damien Sanlaville,et al. [Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes]. , 2006, Medecine sciences : M/S.
[13] C Eng,et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. , 1999, Human molecular genetics.
[14] C Eng,et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. , 1998, Human molecular genetics.
[15] S. Schwartz,et al. Deletion 10q23.2‐q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden‐like syndrome , 1998, Genes, chromosomes & cancer.
[16] C. Boland,et al. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. , 1997, Gastroenterology.
[17] V. McKusick,et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. , 1997, American journal of medical genetics.
[18] R. Laxová,et al. Del(10)(q22.3q24.1) associated with juvenile polyposis. , 1997, American journal of medical genetics.
[19] Jing Li,et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome , 1997, Nature Genetics.