These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 22970607)

  • 1. [GRACILE syndrome--a severe neonatal mitochondrial disorder].
    Fellman V
    Duodecim; 2012; 128(15):1560-7. PubMed ID: 22970607
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
    Akduman H; Eminoglu T; Okulu E; Erdeve O; Atasay B; Arsan S
    Genet Couns; 2016; 27(4):509-512. PubMed ID: 30226971
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
    Jackson CB; Bauer MF; Schaller A; Kotzaeridou U; Ferrarini A; Hahn D; Chehade H; Barbey F; Tran C; Gallati S; Haeberli A; Eggimann S; Bonafé L; Nuoffer JM
    Eur J Pediatr; 2016 Apr; 175(4):517-25. PubMed ID: 26563427
    [TBL] [Abstract][Full Text] [Related]  

  • 4. BCS1L gene mutation causing GRACILE syndrome: case report.
    Kasapkara ÇS; Tümer L; Ezgü FS; Küçükçongar A; Hasanoğlu A
    Ren Fail; 2014 Jul; 36(6):953-4. PubMed ID: 24655110
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
    Tegelberg S; Tomašić N; Kallijärvi J; Purhonen J; Elmér E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
    Orphanet J Rare Dis; 2017 Apr; 12(1):73. PubMed ID: 28427446
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
    Levéen P; Kotarsky H; Mörgelin M; Karikoski R; Elmér E; Fellman V
    Hepatology; 2011 Feb; 53(2):437-47. PubMed ID: 21274865
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
    Oláhová M; Ceccatelli Berti C; Collier JJ; Alston CL; Jameson E; Jones SA; Edwards N; He L; Chinnery PF; Horvath R; Goffrini P; Taylor RW; Sayer JA
    Hum Mol Genet; 2019 Nov; 28(22):3766-3776. PubMed ID: 31435670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and biochemical features associated with BCS1L mutation.
    Al-Owain M; Colak D; Albakheet A; Al-Younes B; Al-Humaidi Z; Al-Sayed M; Al-Hindi H; Al-Sugair A; Al-Muhaideb A; Rahbeeni Z; Al-Sehli A; Al-Fadhli F; Ozand PT; Taylor RW; Kaya N
    J Inherit Metab Dis; 2013 Sep; 36(5):813-20. PubMed ID: 22991165
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
    Fellman V; Lemmelä S; Sajantila A; Pihko H; Järvelä I
    J Hum Genet; 2008; 53(6):554-558. PubMed ID: 18386115
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
    Guo W; Shao Y; Lang Y; Wang H; Lin Y; Liu X; Zhang R; Shao L
    Nephrology (Carlton); 2022 Oct; 27(10):810-814. PubMed ID: 35960161
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.
    Fellman V; Rapola J; Pihko H; Varilo T; Raivio KO
    Lancet; 1998 Feb; 351(9101):490-3. PubMed ID: 9482441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.
    Tomašić N; Kotarsky H; de Oliveira Figueiredo R; Hansson E; Mörgelin M; Tomašić I; Kallijärvi J; Elmér E; Jauhiainen M; Eklund EA; Fellman V
    Biochim Biophys Acta Mol Basis Dis; 2020 Jan; 1866(1):165573. PubMed ID: 31672551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
    Ezgu F; Senaca S; Gunduz M; Tumer L; Hasanoglu A; Tiras U; Unsal R; Bakkaloglu SA
    Gene; 2013 Oct; 528(2):364-6. PubMed ID: 23892085
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.
    Fellman V
    Blood Cells Mol Dis; 2002; 29(3):444-50. PubMed ID: 12547234
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Turkish BCS1L mutation causes GRACILE-like disorder.
    Serdaroğlu E; Takcı Ş; Kotarsky H; Çil O; Utine E; Yiğit Ş; Fellman V
    Turk J Pediatr; 2016; 58(6):658-661. PubMed ID: 29090881
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
    Visapää I; Fellman V; Vesa J; Dasvarma A; Hutton JL; Kumar V; Payne GS; Makarow M; Van Coster R; Taylor RW; Turnbull DM; Suomalainen A; Peltonen L
    Am J Hum Genet; 2002 Oct; 71(4):863-76. PubMed ID: 12215968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.
    Visapää I; Fellman V; Varilo T; Palotie A; Raivio KO; Peltonen L
    Am J Hum Genet; 1998 Nov; 63(5):1396-403. PubMed ID: 9792866
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE).
    Rapola J; Heikkilä P; Fellman V
    Pediatr Pathol Mol Med; 2002; 21(2):183-93. PubMed ID: 11942535
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant.
    Fellman V; Visapää I; Vujic M; Wennerholm UB; Peltonen L
    Acta Obstet Gynecol Scand; 2002 May; 81(5):398-402. PubMed ID: 12027811
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complex III staining in blue native polyacrylamide gels.
    Smet J; De Paepe B; Seneca S; Lissens W; Kotarsky H; De Meirleir L; Fellman V; Van Coster R
    J Inherit Metab Dis; 2011 Jun; 34(3):741-7. PubMed ID: 21484424
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.