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Journal Abstract Search

113 related items for PubMed ID: 11845030

  • 1. [Perrault's syndrome: two cases].
    Bellassoued M, Mnif M, Marouene H, Kammoun S, Ghorbel A, Mnif J, Ayadi F, Drira M, Kchaou MS, Abid M.
    Ann Endocrinol (Paris); 2001 Dec; 62(6):534-7. PubMed ID: 11845030
    [Abstract] [Full Text] [Related]

  • 2. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome.
    Cruz OL, Pedalini ME, Caropreso CA.
    Am J Otol; 1992 Jan; 13(1):82-3. PubMed ID: 1598993
    [Abstract] [Full Text] [Related]

  • 3. Perrault's syndrome in two sisters.
    Bösze P, Skripeczky K, Gaál M, Tóth A, László J.
    Am J Med Genet; 1983 Oct; 16(2):237-41. PubMed ID: 6650568
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. [Perrault's syndrome: familial gonadal dysgenesis with sensorineural deafness].
    Yoshida K, Takashima M, Otsuka H, Okamura Y, Hirano T, Matsuzaki H.
    Nihon Sanka Fujinka Gakkai Zasshi; 1987 Dec; 39(12):2217-20. PubMed ID: 3429997
    [No Abstract] [Full Text] [Related]

  • 7. 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; 176(2):404-408. PubMed ID: 29205794
    [Abstract] [Full Text] [Related]

  • 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. A rare cause for primary amenorrhoea.
    Ameen KH, Pinninti R.
    J Hum Reprod Sci; 2012 May 28; 5(2):218-20. PubMed ID: 23162364
    [Abstract] [Full Text] [Related]

  • 10. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
    Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY.
    J Neurol Sci; 2015 May 28; 353(1-2):149-54. PubMed ID: 25956234
    [Abstract] [Full Text] [Related]

  • 11. The Perrault syndrome: clinical report and review.
    Nishi Y, Hamamoto K, Kajiyama M, Kawamura I.
    Am J Med Genet; 1988 Nov 28; 31(3):623-9. PubMed ID: 3067578
    [Abstract] [Full Text] [Related]

  • 12. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
    Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D.
    J Clin Invest; 2015 Nov 02; 125(11):4295-304. PubMed ID: 26485283
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 28(9-10):1005-7. PubMed ID: 25741941
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
    Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB.
    Clin Genet; 2017 Feb 23; 91(2):328-332. PubMed ID: 27629923
    [Abstract] [Full Text] [Related]

  • 16. Perrault syndrome with Marfanoid habitus in two siblings.
    Jacob JJ, Paul TV, Mathews SS, Thomas N.
    J Pediatr Adolesc Gynecol; 2007 Oct 23; 20(5):305-8. PubMed ID: 17868898
    [Abstract] [Full Text] [Related]

  • 17. 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 23; 25(8):528-539. PubMed ID: 34406847
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 23; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 20. Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.
    Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A.
    Int J Pediatr Otorhinolaryngol; 2006 May 23; 70(5):885-9. PubMed ID: 16325926
    [Abstract] [Full Text] [Related]

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