Rosenberg C - Search Results

1

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

Izzo G, Freitas ÉL, Krepischi AC, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C. Izzo G, et al. Among authors: rosenberg c. Eur J Med Genet. 2013 Apr;56(4):222-5. doi: 10.1016/j.ejmg.2013.01.002. Epub 2013 Feb 8. Eur J Med Genet. 2013. PMID: 23395979 Free article.

2

Spectrum of genetic changes in gastro-esophageal cancer cell lines determined by an integrated molecular cytogenetic approach.

Rosenberg C, Geelen E, IJszenga MJ, Pearson P, Tanke HJ, Dinjens WN, van Dekken H. Rosenberg C, et al. Cancer Genet Cytogenet. 2002 May;135(1):35-41. doi: 10.1016/s0165-4608(01)00639-2. Cancer Genet Cytogenet. 2002. PMID: 12072201

3

Multiple supernumerary ring chromosomes of different origin in a patient: a clinical report and review of the literature.

Beverstock GC, Bezrookove V, Mollevanger P, van de Kamp JJ, Pearson P, Kouwenberg JM, Rosenberg C. Beverstock GC, et al. Among authors: rosenberg c. Am J Med Genet A. 2003 Oct 1;122A(2):168-73. doi: 10.1002/ajmg.a.20163. Am J Med Genet A. 2003. PMID: 12955771 Review.

4

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.

Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM. Krepischi AC, et al. Among authors: rosenberg c. Am J Med Genet A. 2010 Sep;152A(9):2376-8. doi: 10.1002/ajmg.a.33554. Am J Med Genet A. 2010. PMID: 20683986 No abstract available.

5

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Krepischi AC, et al. Among authors: rosenberg c. Epilepsia. 2010 Dec;51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 21204806 Free article.

6

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: rosenberg c. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.

7

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C. Capelli LP, et al. Among authors: rosenberg c. Eur J Med Genet. 2012 Feb;55(2):132-4. doi: 10.1016/j.ejmg.2011.10.004. Epub 2011 Nov 25. Eur J Med Genet. 2012. PMID: 22178256

8

Germline DNA copy number variation in familial and early-onset breast cancer.

Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Krepischi AC, et al. Among authors: rosenberg c. Breast Cancer Res. 2012 Feb 7;14(1):R24. doi: 10.1186/bcr3109. Breast Cancer Res. 2012. PMID: 22314128 Free PMC article.

9

Germline copy number variations and cancer predisposition.

Krepischi AC, Pearson PL, Rosenberg C. Krepischi AC, et al. Among authors: rosenberg c. Future Oncol. 2012 Apr;8(4):441-50. doi: 10.2217/fon.12.34. Future Oncol. 2012. PMID: 22515447 Review.

10

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: rosenberg c. Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22820457 Free article.

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