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 *

100 related articles for article (PubMed ID: 32186514)

  • 21. Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.
    Ponjavic V; Andreasson S; Tranebjaerg L; Lubs HA
    Acta Ophthalmol Scand; 1996 Dec; 74(6):632-5. PubMed ID: 9017058
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
    Roesch K; Curran SP; Tranebjaerg L; Koehler CM
    Hum Mol Genet; 2002 Mar; 11(5):477-86. PubMed ID: 11875042
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Protein translocation into mitochondria: the role of TIM complexes.
    Bauer MF; Hofmann S; Neupert W; Brunner M
    Trends Cell Biol; 2000 Jan; 10(1):25-31. PubMed ID: 10603473
    [TBL] [Abstract][Full Text] [Related]  

  • 24. XLMR genes: update 1998.
    Lubs H; Chiurazzi P; Arena J; Schwartz C; Tranebjaerg L; Neri G
    Am J Med Genet; 1999 Apr; 83(4):237-47. PubMed ID: 10208155
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
    Kojovic M; Pareés I; Lampreia T; Pienczk-Reclawowicz K; Xiromerisiou G; Rubio-Agusti I; Kramberger M; Carecchio M; Alazami AM; Brancati F; Slawek J; Pirtosek Z; Valente EM; Alkuraya FS; Edwards MJ; Bhatia KP
    Mov Disord; 2013 Jun; 28(6):795-803. PubMed ID: 23418071
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.
    Binder J; Hofmann S; Kreisel S; Wöhrle JC; Bäzner H; Krauss JK; Hennerici MG; Bauer MF
    Brain; 2003 Aug; 126(Pt 8):1814-20. PubMed ID: 12805099
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings.
    Rösing B; Kempe A; Berg C; Kahl P; Knöpfle G; Gembruch U; Geipel A
    Ultrasound Obstet Gynecol; 2008 Apr; 31(4):457-60. PubMed ID: 18383484
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs.
    Tüysüz B; Arapoğlu M; Seven M; Cenani A
    Genet Couns; 1999; 10(2):189-92. PubMed ID: 10422014
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson RE; May M; Arena F; Barker D
    J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
    Roesch K; Hynds PJ; Varga R; Tranebjaerg L; Koehler CM
    Hum Mol Genet; 2004 Sep; 13(18):2101-11. PubMed ID: 15254020
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings.
    Kahl P; Heukamp LC; Buettner R; Friedrichs N; Roesing B; Knopfle G
    Pediatr Dev Pathol; 2007; 10(3):239-43. PubMed ID: 17535085
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem.
    McKenna MJ; Kristiansen AG; Tropitzsch AS; Tranebjaerg L; Merchant SN
    Otol Neurotol; 2002 Sep; 23(5):789-92. PubMed ID: 12218636
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The Mohr syndrome: are there two variants?
    Haumont D; Pelc S
    Clin Genet; 1983 Jul; 24(1):41-6. PubMed ID: 6352094
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The role of the TIM8-13 complex in the import of Tim23 into mitochondria.
    Paschen SA; Rothbauer U; Káldi K; Bauer MF; Neupert W; Brunner M
    EMBO J; 2000 Dec; 19(23):6392-400. PubMed ID: 11101512
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The mitochondrial connection in auditory neuropathy.
    Cacace AT; Pinheiro JM
    Audiol Neurootol; 2011; 16(6):398-413. PubMed ID: 21266802
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Max Mohr (1891 - 1937) - a physician in search of independence].
    Beer R; Steger F
    Sudhoffs Arch; 2010; 94(2):201-13. PubMed ID: 21322921
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Protein import into mitochondria.
    Paschen SA; Neupert W
    IUBMB Life; 2001; 52(3-5):101-12. PubMed ID: 11798021
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
    Moerman P; Fryns JP
    Genet Couns; 1998; 9(1):39-43. PubMed ID: 9555586
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H; May M; Tranebjaerg L; Kendall E; Fontán G; Jackson J; Subramony SH; Arena F; Lubs H; Smith S; Stevenson R; Schwartz C; Vetrie D
    Nat Genet; 1996 Oct; 14(2):177-80. PubMed ID: 8841189
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
    Ahting U; Floss T; Uez N; Schneider-Lohmar I; Becker L; Kling E; Iuso A; Bender A; de Angelis MH; Gailus-Durner V; Fuchs H; Meitinger T; Wurst W; Prokisch H; Klopstock T
    Biochim Biophys Acta; 2009 May; 1787(5):371-6. PubMed ID: 19111522
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.