BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

329 related articles for article (PubMed ID: 20673864)

  • 1. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
    Pierce SB; Walsh T; Chisholm KM; Lee MK; Thornton AM; Fiumara A; Opitz JM; Levy-Lahad E; Klevit RE; King MC
    Am J Hum Genet; 2010 Aug; 87(2):282-8. PubMed ID: 20673864
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
    McMillan HJ; Worthylake T; Schwartzentruber J; Gottlieb CC; Lawrence SE; Mackenzie A; Beaulieu CL; Mooyer PA; ; Wanders RJ; Majewski J; Bulman DE; Geraghty MT; Ferdinandusse S; Boycott KM
    Orphanet J Rare Dis; 2012 Nov; 7():90. PubMed ID: 23181892
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 18(1):91. PubMed ID: 28830375
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
    Lieber DS; Hershman SG; Slate NG; Calvo SE; Sims KB; Schmahmann JD; Mootha VK
    BMC Med Genet; 2014 Mar; 15():30. PubMed ID: 24602372
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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; 17(1):290. PubMed ID: 31455392
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 91(2):302-312. PubMed ID: 26970254
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome.
    de Launoit Y; Adamski J
    J Mol Endocrinol; 1999 Jun; 22(3):227-40. PubMed ID: 10343282
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
    Lerat J; Jonard L; Loundon N; Christin-Maitre S; Lacombe D; Goizet C; Rouzier C; Van Maldergem L; Gherbi S; Garabedian EN; Bonnefont JP; Touraine P; Mosnier I; Munnich A; Denoyelle F; Marlin S
    Hum Mutat; 2016 Dec; 37(12):1354-1362. PubMed ID: 27650058
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
    Matsukawa T; Koshi KM; Mitsui J; Bannai T; Kawabe M; Ishiura H; Terao Y; Shimizu J; Murayama K; Yoshimura J; Doi K; Morishita S; Tsuji S; Goto J
    J Neurol Sci; 2017 Jan; 372():6-10. PubMed ID: 28017249
    [TBL] [Abstract][Full Text] [Related]  

  • 11. First-ever genetic link for Perrault syndrome established.
    Am J Med Genet A; 2010 Nov; 152A(11):fmix. PubMed ID: 20979184
    [No Abstract]   [Full Text] [Related]  

  • 12. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
    Ferdinandusse S; Ylianttila MS; Gloerich J; Koski MK; Oostheim W; Waterham HR; Hiltunen JK; Wanders RJ; Glumoff T
    Am J Hum Genet; 2006 Jan; 78(1):112-24. PubMed ID: 16385454
    [TBL] [Abstract][Full Text] [Related]  

  • 13. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
    Soldà G; Caccia S; Robusto M; Chiereghin C; Castorina P; Ambrosetti U; Duga S; Asselta R
    J Hum Genet; 2016 Apr; 61(4):295-300. PubMed ID: 26657938
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Perrault syndrome: further evidence for genetic heterogeneity.
    Jenkinson EM; Clayton-Smith J; Mehta S; Bennett C; Reardon W; Green A; Pearce SH; De Michele G; Conway GS; Cilliers D; Moreton N; Davis JR; Trump D; Newman WG
    J Neurol; 2012 May; 259(5):974-6. PubMed ID: 22037954
    [No Abstract]   [Full Text] [Related]  

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

  • 16. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD; Opitz JM
    Am J Med Genet; 1979; 4(3):239-46. PubMed ID: 517579
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
    Möller G; Leenders F; van Grunsven EG; Dolez V; Qualmann B; Kessels MM; Markus M; Krazeisen A; Husen B; Wanders RJ; de Launoit Y; Adamski J
    J Steroid Biochem Mol Biol; 1999; 69(1-6):441-6. PubMed ID: 10419023
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
    Landau YE; Heimer G; Barel O; Shalva N; Marek-Yagel D; Veber A; Javasky E; Shilon A; Nissenkorn A; Ben-Zeev B; Anikster Y
    Mol Genet Metab Rep; 2020 Dec; 25():100631. PubMed ID: 32904102
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Homozygous Missense Variant in
    Özkan Kart P; Sahin Y; Yildiz N; Cebi AH; Esenulku G; Cansu A
    Mol Syndromol; 2024 Mar; 15(2):143-148. PubMed ID: 38585549
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 17.