PubMed (OMIM) for id: 3295

Year	Number of Results
1951	1
1963	1
1969	1
1970	1
1976	1
1983	1
1985	1
1986	1
1987	1
1988	2
1989	1
1990	2
1992	1
1993	1
1994	2
1995	2
1996	4
1997	4
1998	2
1999	4
2000	1
2001	1
2002	2
2003	1
2004	1
2005	1
2006	2
2008	1
2010	2
2011	2
2012	2
2014	1
2024	0

1

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada). Lines MA, et al. Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19. Neurology. 2014. PMID: 24553428 Free PMC article.

2

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. McMillan HJ, et al. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90. Orphanet J Rare Dis. 2012. PMID: 23181892 Free PMC article.

3

Perrault syndrome: further evidence for genetic heterogeneity.

Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SH, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG. Jenkinson EM, et al. J Neurol. 2012 May;259(5):974-6. doi: 10.1007/s00415-011-6285-5. Epub 2011 Oct 27. J Neurol. 2012. PMID: 22037954 No abstract available.

4

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Pierce SB, et al. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4. Proc Natl Acad Sci U S A. 2011. PMID: 21464306 Free PMC article.

5

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

Grønborg S, Krätzner R, Spiegler J, Ferdinandusse S, Wanders RJ, Waterham HR, Gärtner J. Grønborg S, et al. Am J Med Genet A. 2010 Nov;152A(11):2845-9. doi: 10.1002/ajmg.a.33677. Am J Med Genet A. 2010. PMID: 20949532

6

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Pierce SB, et al. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673864 Free PMC article.

7

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F. Marlin S, et al. Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180. Am J Med Genet A. 2008. PMID: 18241061

8

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T. Ferdinandusse S, et al. Am J Hum Genet. 2006 Jan;78(1):112-24. doi: 10.1086/498880. Epub 2005 Nov 15. Am J Hum Genet. 2006. PMID: 16385454 Free PMC article.

9

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

10

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Fiumara A, et al. Am J Med Genet A. 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616. Am J Med Genet A. 2004. PMID: 15216544

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