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Journal Abstract Search

139 related items for PubMed ID: 23087880

  • 1. A rare cause for primary amenorrhea: Sporadic perrault syndrome.
    Ameen KH, Pinninti R.
    Indian J Endocrinol Metab; 2012 Sep; 16(5):843-5. PubMed ID: 23087880
    [Abstract] [Full Text] [Related]

  • 2. A rare cause for primary amenorrhoea.
    Ameen KH, Pinninti R.
    J Hum Reprod Sci; 2012 May; 5(2):218-20. PubMed ID: 23162364
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  • 3. Perrault syndrome - a rare case report.
    Sampathkumar G, Veerasigamani N.
    J Clin Diagn Res; 2015 Mar; 9(3):OD01-2. PubMed ID: 25954653
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  • 4. Perrault syndrome with Marfanoid habitus in two siblings.
    Jacob JJ, Paul TV, Mathews SS, Thomas N.
    J Pediatr Adolesc Gynecol; 2007 Oct; 20(5):305-8. PubMed ID: 17868898
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  • 5. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder.
    Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK.
    J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1005-7. PubMed ID: 25741941
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  • 6. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.
    Al-Jaroudi D, Enabi S, AlThagafi MS.
    Gynecol Endocrinol; 2019 Dec; 35(12):1037-1039. PubMed ID: 31274036
    [Abstract] [Full Text] [Related]

  • 7. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979 Dec; 4(3):239-46. PubMed ID: 517579
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  • 8. 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]

  • 9. 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 28; 26(4):200-204. PubMed ID: 28832386
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 141(3-4):805-819. PubMed ID: 34338890
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 12. 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
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  • 13. 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
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  • 16. 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 23; 176(2):404-408. PubMed ID: 29205794
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  • 20. Broadening the phenotype of the TWNK gene associated Perrault syndrome.
    Fekete B, Pentelényi K, Rudas G, Gál A, Grosz Z, Illés A, Idris J, Csukly G, Domonkos A, Molnar MJ.
    BMC Med Genet; 2019 Dec 18; 20(1):198. PubMed ID: 31852434
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