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Journal Abstract Search

280 related items for PubMed ID: 21963259

  • 1. 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]

  • 2. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
    Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M, Welt CK.
    J Clin Endocrinol Metab; 2018 Feb 01; 103(2):555-563. PubMed ID: 29240891
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.
    Sirchia F, Giorgio E, Cucinella L, Valente EM, Nappi RE.
    J Assist Reprod Genet; 2022 May 02; 39(5):1177-1181. PubMed ID: 35352317
    [Abstract] [Full Text] [Related]

  • 6. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
    Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E.
    Am J Hum Genet; 2013 Apr 04; 92(4):614-20. PubMed ID: 23541342
    [Abstract] [Full Text] [Related]

  • 7. 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 04; 91(2):328-332. PubMed ID: 27629923
    [Abstract] [Full Text] [Related]

  • 8. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
    Altunoglu U, Börklü E, Shukla A, Escande-Beillard N, Ledig S, Azaklı H, Nayak SS, Eraslan S, Girisha KM, Kennerknecht I, Kayserili H.
    Clin Genet; 2022 Feb 04; 101(2):221-232. PubMed ID: 34750818
    [Abstract] [Full Text] [Related]

  • 9. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
    Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T.
    Eur J Endocrinol; 2021 Dec 01; 186(1):65-72. PubMed ID: 34714774
    [Abstract] [Full Text] [Related]

  • 10. Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.
    Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL.
    Am J Med Genet; 1996 Jun 28; 63(4):518-24. PubMed ID: 8826428
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun 28; 353(1-2):149-54. PubMed ID: 25956234
    [Abstract] [Full Text] [Related]

  • 12. Familial ovarian dysgenesis in 46,XX females.
    Vesely DL, Bower RH, Kohler PO, Char F.
    Am J Med Sci; 1980 Jun 28; 280(3):157-66. PubMed ID: 6779629
    [Abstract] [Full Text] [Related]

  • 13. 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 28; 91(2):302-312. PubMed ID: 26970254
    [Abstract] [Full Text] [Related]

  • 14. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.
    Al-Jaroudi D, Enabi S, AlThagafi MS.
    Gynecol Endocrinol; 2019 Dec 28; 35(12):1037-1039. PubMed ID: 31274036
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.
    Norling A, Hirschberg AL, Karlsson L, Rodriguez-Wallberg KA, Iwarsson E, Wedell A, Barbaro M.
    Sex Dev; 2014 Aug 28; 8(4):146-50. PubMed ID: 24481226
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Familial 46,XX gonadal dysgenesis.
    Portuondo JA, Neyro JL, Benito JA, de los Rios A, Barral A.
    Int J Fertil; 1987 Aug 23; 32(1):56-8. PubMed ID: 2880817
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
    Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS.
    Hum Mol Genet; 2017 Jul 01; 26(13):2541-2550. PubMed ID: 28449065
    [Abstract] [Full Text] [Related]

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