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Journal Abstract Search

332 related items for PubMed ID: 20673864

  • 1. 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.
    Am J Hum Genet; 2010 Aug 13; 87(2):282-8. PubMed ID: 20673864
    [Abstract] [Full Text] [Related]

  • 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.
    Orphanet J Rare Dis; 2012 Nov 22; 7():90. PubMed ID: 23181892
    [Abstract] [Full Text] [Related]

  • 3. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
    Chen K, Yang K, Luo SS, Chen C, Wang Y, Wang YX, Li DK, Yang YJ, Tang YL, Liu FT, Wang J, Wu JJ, Sun YM.
    BMC Med Genet; 2017 Aug 23; 18(1):91. PubMed ID: 28830375
    [Abstract] [Full Text] [Related]

  • 4. Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
    Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.
    BMC Med Genet; 2014 Mar 06; 15():30. PubMed ID: 24602372
    [Abstract] [Full Text] [Related]

  • 5. Genotype and phenotype heterogeneity in perrault syndrome.
    Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y.
    J Pediatr Adolesc Gynecol; 2013 Feb 06; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 6. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
    Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I.
    J Transl Med; 2019 Aug 28; 17(1):290. PubMed ID: 31455392
    [Abstract] [Full Text] [Related]

  • 7. Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
    Idyahia A, Redouan S, Amalou G, Charoute H, Harmak H, Bonnet C, Petit C, Benrahma H, Barakat A.
    Mol Biol Rep; 2024 Jul 25; 51(1):850. PubMed ID: 39052101
    [Abstract] [Full Text] [Related]

  • 8. Expanding the genotypic spectrum of Perrault syndrome.
    Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.
    Clin Genet; 2017 Feb 25; 91(2):302-312. PubMed ID: 26970254
    [Abstract] [Full Text] [Related]

  • 9. Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome.
    de Launoit Y, Adamski J.
    J Mol Endocrinol; 1999 Jun 25; 22(3):227-40. PubMed ID: 10343282
    [Abstract] [Full Text] [Related]

  • 10. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
    Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S.
    Hum Mutat; 2016 Dec 25; 37(12):1354-1362. PubMed ID: 27650058
    [Abstract] [Full Text] [Related]

  • 11. Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
    Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J.
    J Neurol Sci; 2017 Jan 15; 372():6-10. PubMed ID: 28017249
    [Abstract] [Full Text] [Related]

  • 12. First-ever genetic link for Perrault syndrome established.
    Am J Med Genet A; 2010 Nov 15; 152A(11):fmix. PubMed ID: 20979184
    [No Abstract] [Full Text] [Related]

  • 13. 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.
    Am J Hum Genet; 2006 Jan 15; 78(1):112-24. PubMed ID: 16385454
    [Abstract] [Full Text] [Related]

  • 14. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
    Soldà G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U, Duga S, Asselta R.
    J Hum Genet; 2016 Apr 15; 61(4):295-300. PubMed ID: 26657938
    [Abstract] [Full Text] [Related]

  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Newman WG, Friedman TB, Conway GS, Demain LAM.
    ; 1993 Apr 15. PubMed ID: 25254289
    [Abstract] [Full Text] [Related]

  • 16. 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.
    J Neurol; 2012 May 15; 259(5):974-6. PubMed ID: 22037954
    [No Abstract] [Full Text] [Related]

  • 17. The Perrault syndrome: clinical report and review.
    Nishi Y, Hamamoto K, Kajiyama M, Kawamura I.
    Am J Med Genet; 1988 Nov 15; 31(3):623-9. PubMed ID: 3067578
    [Abstract] [Full Text] [Related]

  • 18. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979 Nov 15; 4(3):239-46. PubMed ID: 517579
    [Abstract] [Full Text] [Related]

  • 19. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
    Möller G, Leenders F, van Grunsven EG, Dolez V, Qualmann B, Kessels MM, Markus M, Krazeisen A, Husen B, Wanders RJ, de Launoit Y, Adamski J.
    J Steroid Biochem Mol Biol; 1999 Nov 15; 69(1-6):441-6. PubMed ID: 10419023
    [Abstract] [Full Text] [Related]

  • 20. Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
    Landau YE, Heimer G, Barel O, Shalva N, Marek-Yagel D, Veber A, Javasky E, Shilon A, Nissenkorn A, Ben-Zeev B, Anikster Y.
    Mol Genet Metab Rep; 2020 Dec 15; 25():100631. PubMed ID: 32904102
    [Abstract] [Full Text] [Related]

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