Braverman NE - Search Results

1

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.

2

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ. Dodt G, et al. Nat Genet. 1995 Feb;9(2):115-25. doi: 10.1038/ng0295-115. Nat Genet. 1995. PMID: 7719337

3

Disorders of peroxisome biogenesis.

Braverman N, Dodt G, Gould SJ, Valle D. Braverman N, et al. Hum Mol Genet. 1995;4 Spec No:1791-8. doi: 10.1093/hmg/4.suppl_1.1791. Hum Mol Genet. 1995. PMID: 8541879 Review.

4

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Braverman N, et al. Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369. Nat Genet. 1997. PMID: 9090381

5

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. Braverman N, et al. Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357. Nat Genet. 1999. PMID: 10391219

6

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D. Braverman N, et al. Genomics. 2000 Jan 15;63(2):181-92. doi: 10.1006/geno.1999.6080. Genomics. 2000. PMID: 10673331 Free article.

7

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Matsumoto N, Tamura S, Moser A, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y. Matsumoto N, et al. J Hum Genet. 2001;46(5):273-7. doi: 10.1007/s100380170078. J Hum Genet. 2001. PMID: 11355018

8

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. Braverman N, et al. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124. Hum Mutat. 2002. PMID: 12325024

9

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N. Steinberg S, et al. Mol Genet Metab. 2004 Nov;83(3):252-63. doi: 10.1016/j.ymgme.2004.08.008. Mol Genet Metab. 2004. PMID: 15542397

10

Peroxisome biogenesis disorders.

Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Steinberg SJ, et al. Among authors: braverman ne. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. doi: 10.1016/j.bbamcr.2006.09.010. Epub 2006 Sep 14. Biochim Biophys Acta. 2006. PMID: 17055079 Free article. Review.

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