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Journal Abstract Search

134 related items for PubMed ID: 23332201

  • 1. 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; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 2. 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; 259(5):974-6. PubMed ID: 22037954
    [No Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
    Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A.
    Genet Test Mol Biomarkers; 2021 Aug 13; 25(8):528-539. PubMed ID: 34406847
    [Abstract] [Full Text] [Related]

  • 5. LARS2-Perrault syndrome: a new case report and literature review.
    Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A.
    BMC Med Genet; 2020 May 18; 21(1):109. PubMed ID: 32423379
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  • 7. First-ever genetic link for Perrault syndrome established.
    Am J Med Genet A; 2010 Nov 18; 152A(11):fmix. PubMed ID: 20979184
    [No Abstract] [Full Text] [Related]

  • 8. 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 18; 37(12):1354-1362. PubMed ID: 27650058
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  • 10. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
    Kosaki R, Horikawa R, Fujii E, Kosaki K.
    Am J Med Genet A; 2018 Feb 18; 176(2):404-408. PubMed ID: 29205794
    [Abstract] [Full Text] [Related]

  • 11. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
    Faridi R, Rea A, Fenollar-Ferrer C, O'Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB.
    Hum Genet; 2022 Apr 18; 141(3-4):805-819. PubMed ID: 34338890
    [Abstract] [Full Text] [Related]

  • 12. Marfanoid habitus is a nonspecific feature of Perrault syndrome.
    Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A.
    Clin Dysmorphol; 2017 Oct 18; 26(4):200-204. PubMed ID: 28832386
    [Abstract] [Full Text] [Related]

  • 13. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
    Karstensen HG, Rendtorff ND, Hindbæk LS, Colombo R, Stein A, Birkebæk NH, Hartmann-Petersen R, Lindorff-Larsen K, Højland AT, Petersen MB, Tranebjærg L.
    Eur J Med Genet; 2020 Mar 18; 63(3):103733. PubMed ID: 31449985
    [Abstract] [Full Text] [Related]

  • 14. Perrault syndrome with Marfanoid habitus in two siblings.
    Jacob JJ, Paul TV, Mathews SS, Thomas N.
    J Pediatr Adolesc Gynecol; 2007 Oct 18; 20(5):305-8. PubMed ID: 17868898
    [Abstract] [Full Text] [Related]

  • 15. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
    Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E.
    Am J Hum Genet; 2011 Oct 07; 89(4):572-9. PubMed ID: 21963259
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 23; 61(4):295-300. PubMed ID: 26657938
    [Abstract] [Full Text] [Related]

  • 18. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
    Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG.
    J Hum Genet; 2020 Mar 23; 65(3):305-311. PubMed ID: 31827252
    [Abstract] [Full Text] [Related]

  • 19. Perrault syndrome: Clinical report and retrospective analysis.
    Pan Z, Xu H, Tian Y, Liu D, Liu H, Li R, Dou Q, Zuo B, Zhai R, Tang W, Lu W.
    Mol Genet Genomic Med; 2020 Oct 23; 8(10):e1445. PubMed ID: 32767731
    [Abstract] [Full Text] [Related]

  • 20. 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]

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