PubMed for id: 5191

Year	Number of Results
1993	3
1997	4
1998	2
1999	4
2000	1
2001	2
2002	5
2003	2
2004	3
2006	1
2007	1
2008	1
2009	1
2010	3
2011	3
2012	1
2013	1
2014	3
2015	4
2016	1
2017	2
2018	3
2020	2
2021	3
2023	1
2024	0

1

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.

Masih S, Moirangthem A, Phadke SR. Masih S, et al. Am J Med Genet A. 2021 May;185(5):1504-1508. doi: 10.1002/ajmg.a.62110. Epub 2021 Feb 14. Am J Med Genet A. 2021. PMID: 33586206

2

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Klouwer FC, Koster J, Ferdinandusse S, Waterham HR. Klouwer FC, et al. Histochem Cell Biol. 2017 Apr;147(4):537-541. doi: 10.1007/s00418-016-1532-6. Epub 2016 Dec 24. Histochem Cell Biol. 2017. PMID: 28013369 Free PMC article.

3

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

Çim A, Coşkun S, Görükmez O, Yüksel H, Uluca Ü, Pietro ED, Plourde F, Braverman NE. Çim A, et al. J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):69-72. doi: 10.4274/jcrpe.1835. J Clin Res Pediatr Endocrinol. 2015. PMID: 25800479 Free PMC article.

4

Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.

Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K. Ro M, et al. J Child Neurol. 2012 Oct;27(10):1270-5. doi: 10.1177/0883073811435507. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378669

5

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Braverman NE, et al. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301447 Free Books & Documents. Review.

6

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.

Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N. Phadke SR, et al. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. J Appl Genet. 2010. PMID: 20145307

7

Identification of PEX7 as the second gene involved in Refsum disease.

Van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. Van den Brink DM, et al. Adv Exp Med Biol. 2003;544:69-70. doi: 10.1007/978-1-4419-9072-3_9. Adv Exp Med Biol. 2003. PMID: 14713215 No abstract available.

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

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR. Motley AM, et al. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 Jan 7. Am J Hum Genet. 2002. PMID: 11781871 Free PMC article.

10

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.

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