Raff ML - Search Results

1

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

Illson ML, Dempsey-Nunez L, Kent J, Huang Q, Brebner A, Raff ML, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS. Illson ML, et al. Among authors: raff ml. Mol Genet Metab. 2013 Sep-Oct;110(1-2):86-9. doi: 10.1016/j.ymgme.2013.04.020. Epub 2013 May 4. Mol Genet Metab. 2013. PMID: 23707710

2

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

Raff ML, Crane AM, Jansen R, Ledley FD, Rosenblatt DS. Raff ML, et al. J Clin Invest. 1991 Jan;87(1):203-7. doi: 10.1172/JCI114972. J Clin Invest. 1991. PMID: 1670635 Free PMC article.

3

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML. Bennett MJ, et al. Among authors: raff ml. Mol Genet Metab. 2004 May;82(1):59-63. doi: 10.1016/j.ymgme.2004.02.004. Mol Genet Metab. 2004. PMID: 15110323

4

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM. Walters BA, et al. Among authors: raff ml. Am J Med Genet A. 2004 Sep 1;129A(3):265-76. doi: 10.1002/ajmg.a.30145. Am J Med Genet A. 2004. PMID: 15326626

5

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.

Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH. Raff ML, et al. Hum Genet. 2000 Jan;106(1):19-28. doi: 10.1007/s004390051004. Hum Genet. 2000. PMID: 10982177

6

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Lüdecke HJ. Kaiser FJ, et al. Among authors: raff ml. Eur J Hum Genet. 2004 Feb;12(2):121-6. doi: 10.1038/sj.ejhg.5201094. Eur J Hum Genet. 2004. PMID: 14560312

7

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.

Souter VL, Glass IA, Chapman DB, Raff ML, Parisi MA, Opheim KE, Disteche CM. Souter VL, et al. Among authors: raff ml. Ultrasound Obstet Gynecol. 2003 Jun;21(6):609-15. doi: 10.1002/uog.112. Ultrasound Obstet Gynecol. 2003. PMID: 12808681 Free article.

8

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.

Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA. Tsuchiya KD, et al. Among authors: raff ml. Mol Cytogenet. 2008 Apr 21;1:7. doi: 10.1186/1755-8166-1-7. Mol Cytogenet. 2008. PMID: 18471320 Free PMC article.

9

Joint hypermobility syndromes.

Raff ML, Byers PH. Raff ML, et al. Curr Opin Rheumatol. 1996 Sep;8(5):459-66. doi: 10.1097/00002281-199609000-00012. Curr Opin Rheumatol. 1996. PMID: 8941450 Review.

10

Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.

Reed RC, Beischel L, Schoof J, Johnson J, Raff ML, Kapur RP. Reed RC, et al. Among authors: raff ml. Pediatr Dev Pathol. 2008 Sep-Oct;11(5):377-83. doi: 10.2350/07-12-0401.1. Epub 2008 Feb 8. Pediatr Dev Pathol. 2008. PMID: 18260692

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