Cuoco C - Search Results

1

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG. Mignon-Ravix C, et al. Among authors: cuoco c. Eur J Hum Genet. 2007 Apr;15(4):432-40. doi: 10.1038/sj.ejhg.5201775. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264869

2

De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome.

Cuoco C, Bicocchi MP, Granata D, Mezzano P, Serra G. Cuoco C, et al. Am J Med Genet. 1990 Sep;37(1):62-4. doi: 10.1002/ajmg.1320370115. Am J Med Genet. 1990. PMID: 2240045

3

Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.

Danesino C, Gimelli G, Cuoco C, Ciccone MO. Danesino C, et al. Among authors: cuoco c. Hum Genet. 1981;56(3):371-3. doi: 10.1007/BF00274695. Hum Genet. 1981. PMID: 7239519

4

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Gimelli S, Stathaki E, Béna F, Leoni M, Di Rocco M, Cuoco C, Tassano E. Gimelli S, et al. Among authors: cuoco c. Am J Med Genet A. 2014 Mar;164A(3):801-5. doi: 10.1002/ajmg.a.36357. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24591035

5

New recurrent chromosome change in pediatric therapy-related myelodysplastic syndrome: unbalanced translocation 1/6 with cryptic duplication of short arm of chromosome 6.

Tassano E, Tavella E, Valli R, Micalizzi C, Cuoco C, Maserati E, Pasquali F, Morerio C. Tassano E, et al. Among authors: cuoco c. Leuk Lymphoma. 2012 Dec;53(12):2434-8. doi: 10.3109/10428194.2012.695778. Epub 2012 Jun 13. Leuk Lymphoma. 2012. PMID: 22616618

6

Duplication of the short arm of chromosome 9. Analysis of five cases.

Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S. Cuoco C, et al. Hum Genet. 1982;61(1):3-7. doi: 10.1007/BF00291321. Hum Genet. 1982. PMID: 7129421

7

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C. Tiepolo L, et al. Among authors: cuoco c. Hum Genet. 1979 Oct 1;51(2):127-37. doi: 10.1007/BF00287166. Hum Genet. 1979. PMID: 511139

8

Prenatal diagnosis of a partial 8p trisomy.

Pezzolo A, Bicocchi MP, Zampatti C, Cuoco C, Gimelli G. Pezzolo A, et al. Among authors: cuoco c. Prenat Diagn. 1990 Aug;10(8):533-8. doi: 10.1002/pd.1970100809. Prenat Diagn. 1990. PMID: 2267231

9

Interstitial 11q24 deletion: a new case and review of the literature.

Tassano E, Janis S, Canepa A, Zanotto E, Torello C, Gimelli G, Cuoco C. Tassano E, et al. Among authors: cuoco c. J Appl Genet. 2016 Aug;57(3):357-62. doi: 10.1007/s13353-015-0333-2. Epub 2016 Mar 28. J Appl Genet. 2016. PMID: 27020790 Review.

10

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Pavone LM, Di Gregorio G, Filocamo M, Scarano G. Lonardo F, et al. Among authors: cuoco c. Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25044788

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