Rosenberg MJ - Search Results

1

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Chang S, et al. Among authors: rosenberg mj. Hum Mol Genet. 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865. Hum Mol Genet. 1998. PMID: 9536091

2

Gene structure and allelic expression assay of the human GLI3 gene.

Kang S, Rosenberg M, Ko VD, Biesecker LG. Kang S, et al. Hum Genet. 1997 Dec;101(2):154-7. doi: 10.1007/s004390050605. Hum Genet. 1997. PMID: 9402960

3

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Rosenberg MJ, et al. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Nat Genet. 2002. PMID: 12185364

4

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. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.

5

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Rosenberg MJ, et al. Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559. Hum Genet. 2001. PMID: 11702212

6

Detection of a subtle rearrangement of chromosome 22 using molecular techniques.

Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K. Biesecker LG, et al. Am J Med Genet. 1995 Sep 25;58(4):389-94. doi: 10.1002/ajmg.1320580426. Am J Med Genet. 1995. PMID: 8533859 Review.

7

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Ning Y, et al. Hum Genet. 1996 Jun;97(6):765-9. doi: 10.1007/BF02346187. Hum Genet. 1996. PMID: 8641694

8

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. Turner C, et al. Hum Genet. 2003 Mar;112(3):303-9. doi: 10.1007/s00439-002-0892-2. Epub 2003 Jan 25. Hum Genet. 2003. PMID: 12545275

9

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. Liu J, et al. Among authors: rosenberg mj. J Clin Invest. 2000 Nov;106(9):1167-74. doi: 10.1172/JCI10431. J Clin Invest. 2000. PMID: 11067869 Free PMC article.

10

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

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