Marinescu RC - Search Results

1

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J. Sreekantaiah C, et al. Among authors: marinescu rc. Am J Med Genet. 1999 Sep 17;86(3):264-8. Am J Med Genet. 1999. PMID: 10482877

2

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome.

Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Overhauser J. Marinescu RC, et al. Am J Med Genet. 1999 Sep 3;86(1):66-70. doi: 10.1002/(sici)1096-8628(19990903)86:1<66::aid-ajmg13>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10440832

3

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome.

Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J. Marinescu RC, et al. Clin Genet. 1999 Oct;56(4):282-8. doi: 10.1034/j.1399-0004.1999.560405.x. Clin Genet. 1999. PMID: 10636446

4

Growth charts for cri-du-chat syndrome: an international collaborative study.

Marinescu RC, Mainardi PC, Collins MR, Kouahou M, Coucourde G, Pastore G, Eaton-Evans J, Overhauser J. Marinescu RC, et al. Am J Med Genet. 2000 Sep 11;94(2):153-62. doi: 10.1002/1096-8628(20000911)94:2<153::aid-ajmg8>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10982972

5

Variability in a family with an insertion involving 5p.

Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J. Marinescu RC, et al. Am J Med Genet. 1999 Sep 17;86(3):258-63. Am J Med Genet. 1999. PMID: 10482876

6

5p14 deletion associated with microcephaly and seizures.

Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J. Johnson EI, et al. Among authors: marinescu rc. J Med Genet. 2000 Feb;37(2):125-7. doi: 10.1136/jmg.37.2.125. J Med Genet. 2000. PMID: 10662813 Free PMC article.

7

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.

Medina M, Marinescu RC, Overhauser J, Kosik KS. Medina M, et al. Among authors: marinescu rc. Genomics. 2000 Jan 15;63(2):157-64. doi: 10.1006/geno.1999.6090. Genomics. 2000. PMID: 10673328

8

Exclusion of the gene for human cartilage intermediate layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes.

Marinescu RC, Nyce K, Serrano de la Peña L, Overhauser J, Williams CJ. Marinescu RC, et al. Arthritis Rheum. 1999 Oct;42(10):2139-44. doi: 10.1002/1529-0131(199910)42:10<2139::AID-ANR14>3.0.CO;2-1. Arthritis Rheum. 1999. PMID: 10524685 Free article.

9

Refined chromosomal localization of the mismatch repair and hereditary nonpolyposis colorectal cancer genes hMSH2 and hMSH6.

Schmutte C, Marinescu RC, Copeland NG, Jenkins NA, Overhauser J, Fishel R. Schmutte C, et al. Among authors: marinescu rc. Cancer Res. 1998 Nov 15;58(22):5023-6. Cancer Res. 1998. PMID: 9823302

10

Human exonuclease I interacts with the mismatch repair protein hMSH2.

Schmutte C, Marinescu RC, Sadoff MM, Guerrette S, Overhauser J, Fishel R. Schmutte C, et al. Among authors: marinescu rc. Cancer Res. 1998 Oct 15;58(20):4537-42. Cancer Res. 1998. PMID: 9788596

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