Braverman NE - Search Results

1

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Among authors: braverman ne. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.

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

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

4

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

5

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.

6

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

7

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

8

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

9

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.

10

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW. Steinberg SJ, et al. Among authors: braverman ne. J Inherit Metab Dis. 2009 Feb;32(1):109-19. doi: 10.1007/s10545-008-0969-8. Epub 2008 Dec 25. J Inherit Metab Dis. 2009. PMID: 19127411

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