Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 2
2015 3
2016 2
2017 1
2020 1
2022 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
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 …
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. ...To date, 19 variants have been reported in 18 individuals with LARS2-Pe …
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearin …
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Munson HE, De Simone L, Schwaede A, Bhatia A, Mithal DS, Young N, Kuntz N, Rao VK. Munson HE, et al. BMC Med Genomics. 2023 Nov 6;16(1):278. doi: 10.1186/s12920-023-01599-4. BMC Med Genomics. 2023. PMID: 37932750 Free PMC article.
BACKGROUND: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. ...WES revealed a compound heterozygous state with two variants in the TWNK gene …
BACKGROUND: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural heari …
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.
Opitz JM. Opitz JM. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):387-96. doi: 10.1002/ajmg.c.31420. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424868 Review.
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics. The Perrault syndrome evaluated in two families in Montana and one in Sicily for familial deaf …
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transfo …
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. Zerkaoui M, et al. Clin Dysmorphol. 2017 Oct;26(4):200-204. doi: 10.1097/MCD.0000000000000198. Clin Dysmorphol. 2017. PMID: 28832386
Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis. . …
Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault …
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S. Neyroud AS, et al. Eur J Hum Genet. 2023 Apr;31(4):453-460. doi: 10.1038/s41431-022-01252-1. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450801 Free PMC article.
Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino-acylation studies, we established that the novel missense variant significantly impairs LARS2 function. Perrault syndrome is c …
Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino- …
Barrel-shaped ClpP Proteases Display Attenuated Cleavage Specificities.
Gersch M, Stahl M, Poreba M, Dahmen M, Dziedzic A, Drag M, Sieber SA. Gersch M, et al. ACS Chem Biol. 2016 Feb 19;11(2):389-99. doi: 10.1021/acschembio.5b00757. Epub 2015 Dec 9. ACS Chem Biol. 2016. PMID: 26606371
We used these to profile the activity of cancer-patient- and Perrault-syndrome-derived ClpP mutant proteins....
We used these to profile the activity of cancer-patient- and Perrault-syndrome-derived ClpP mutant proteins....
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 …