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243 related items for PubMed ID: 17868898
1. 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 [Abstract] [Full Text] [Related]
2. 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]
3. Neurologic anomalies of Perrault syndrome. Gottschalk ME, Coker SB, Fox LA. Am J Med Genet; 1996 Nov 11; 65(4):274-6. PubMed ID: 8923934 [Abstract] [Full Text] [Related]
4. A rare cause for primary amenorrhea: Sporadic perrault syndrome. Ameen KH, Pinninti R. Indian J Endocrinol Metab; 2012 Sep 11; 16(5):843-5. PubMed ID: 23087880 [Abstract] [Full Text] [Related]
5. 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 11; 26(4):200-204. PubMed ID: 28832386 [Abstract] [Full Text] [Related]
6. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. Cruz OL, Pedalini ME, Caropreso CA. Am J Otol; 1992 Jan 11; 13(1):82-3. PubMed ID: 1598993 [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 Jan 11; 4(3):239-46. PubMed ID: 517579 [Abstract] [Full Text] [Related]
9. The Perrault syndrome: clinical report and review. Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. Am J Med Genet; 1988 Nov 11; 31(3):623-9. PubMed ID: 3067578 [Abstract] [Full Text] [Related]
11. A rare cause for primary amenorrhoea. Ameen KH, Pinninti R. J Hum Reprod Sci; 2012 May 11; 5(2):218-20. PubMed ID: 23162364 [Abstract] [Full Text] [Related]
12. Perrault syndrome - a rare case report. Sampathkumar G, Veerasigamani N. J Clin Diagn Res; 2015 Mar 11; 9(3):OD01-2. PubMed ID: 25954653 [Abstract] [Full Text] [Related]
13. Perrault's syndrome in two sisters. Bösze P, Skripeczky K, Gaál M, Tóth A, László J. Am J Med Genet; 1983 Oct 11; 16(2):237-41. PubMed ID: 6650568 [Abstract] [Full Text] [Related]
14. Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? Linssen WH, Van den Bent MJ, Brunner HG, Poels PJ. Am J Med Genet; 1994 May 15; 51(1):81-2. PubMed ID: 8030674 [Abstract] [Full Text] [Related]
15. [Two sisters with major gonadal dysgenesis, dwarfism, microcephaly, arachnodactyly, and normal karyotype 46, XX]. Maximilian C, Ionescu B, Bucur A. J Genet Hum; 1970 Dec 15; 18(4):365-78. PubMed ID: 5524817 [No Abstract] [Full Text] [Related]
16. 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 15; 91(2):302-312. PubMed ID: 26970254 [Abstract] [Full Text] [Related]
17. 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 15; 176(2):404-408. PubMed ID: 29205794 [Abstract] [Full Text] [Related]
18. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. Al-Jaroudi D, Enabi S, AlThagafi MS. Gynecol Endocrinol; 2019 Dec 15; 35(12):1037-1039. PubMed ID: 31274036 [Abstract] [Full Text] [Related]
19. 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]
20. Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Simpson JL, Christakos AC, Horwith M, Silverman FS. Birth Defects Orig Artic Ser; 1971 May 28; 7(6):215-28. PubMed ID: 5173165 [Abstract] [Full Text] [Related] Page: [Next] [New Search]