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Quoted phrase not found in phrase index: "Perrault syndrome 4"
Page 1
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defect …
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defe …
Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.
Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL. Meyers CM, et al. Am J Med Genet. 1996 Jun 28;63(4):518-24. doi: 10.1002/(SICI)1096-8628(19960628)63:4<518::AID-AJMG2>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8826428 Review.
In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another form, brothers may have germ cell aplasia [Granat et al., Fertil Steril 1983; 40:215-219]. ...
In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syn …
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H. Dursun F, et al. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):472-477. doi: 10.4274/jcrpe.2717. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27087618 Free PMC article.
Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. ...
Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing …
Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.
Öcal G, Berberoğlu M, Sıklar Z, Aycan Z, Hacıhamdioglu B, Savas Erdeve Ş, Çamtosun E, Kocaay P, Ruhi HI, Kılıç BG, Tukun A. Öcal G, et al. J Pediatr Adolesc Gynecol. 2015 Feb;28(1):6-11. doi: 10.1016/j.jpag.2014.01.106. Epub 2014 Nov 12. J Pediatr Adolesc Gynecol. 2015. PMID: 25444050
RESULTS: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian develo …
RESULTS: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had cl …