Blancato J - Search Results

1

alpha-Synuclein locus triplication causes Parkinson's disease.

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Among authors: blancato j. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.

2

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. Lavedan C, et al. Among authors: blancato j. DNA Res. 1998 Dec 31;5(6):401-2. doi: 10.1093/dnares/5.6.401. DNA Res. 1998. PMID: 10048491 Free article. No abstract available.

3

Detection of chromosomal aberrations by a whole-genome microsatellite screen.

Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Rosenberg MJ, et al. Among authors: blancato jk. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.

4

Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).

Stratakis CA, Lafferty A, Taymans SE, Gafni RI, Meck JM, Blancato J. Stratakis CA, et al. Among authors: blancato j. J Clin Endocrinol Metab. 2000 Sep;85(9):3396-401. doi: 10.1210/jcem.85.9.6776. J Clin Endocrinol Metab. 2000. PMID: 10999840

5

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Johnston JJ, et al. Among authors: blancato j. Am J Med Genet A. 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318. Am J Med Genet A. 2003. PMID: 14608643

6

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.

Kozma C, Blancato J, Meck J, Jiang Y. Kozma C, et al. Among authors: blancato j. Am J Med Genet. 1998 Apr 28;77(1):19-22. Am J Med Genet. 1998. PMID: 9557888

7

Absence of donor-derived keratinocyte stem cells in skin tissues cultured from patients after mobilized peripheral blood hematopoietic stem cell transplantation.

Hematti P, Sloand EM, Carvallo CA, Albert MR, Yee CL, Fuehrer MM, Blancato JK, Kearns WG, Barrett JA, Childs RW, Vogel JC, Dunbar CE. Hematti P, et al. Exp Hematol. 2002 Aug;30(8):943-9. doi: 10.1016/s0301-472x(02)00873-1. Exp Hematol. 2002. PMID: 12160846 Free article.

8

A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion.

Stratakis CA, Turner ML, Lafferty A, Toro JR, Hill S, Meck JM, Blancato J. Stratakis CA, et al. Among authors: blancato j. J Med Genet. 2001 May;38(5):338-43. doi: 10.1136/jmg.38.5.338. J Med Genet. 2001. PMID: 11403045 Free PMC article. No abstract available.

9

Prenatal diagnosis of tetrasomy 12p by in situ hybridization: varying levels of mosaicism in different fetal tissues.

Blancato JK, Hunt M, George J, Katz J, Meck JM. Blancato JK, et al. Prenat Diagn. 1992 Dec;12(12):979-83. doi: 10.1002/pd.1970121202. Prenat Diagn. 1992. PMID: 1287645

10

Prenatal diagnosis of partial trisomy through in situ hybridization on amniocytes with whole chromosome and centromere-specific DNA probes. A case report.

Blancato JK, Eglinton G, George J, Benkendorf J, Pinckert T, Meck J. Blancato JK, et al. J Reprod Med. 1995 Jul;40(7):537-9. J Reprod Med. 1995. PMID: 7473445

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