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 *

168 related articles for article (PubMed ID: 33667650)

  • 1. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
    Angelini C; Trimouille A; Arveiler B; Espil-Taris C; Ichinose N; Lasseaux E; Tourdias T; Lacombe D
    Eur J Med Genet; 2021 Apr; 64(4):104188. PubMed ID: 33667650
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
    Murillo-Correa CE; Kon-Jara V; Engle EC; Zenteno JC
    J AAPOS; 2009 Jun; 13(3):245-8. PubMed ID: 19541263
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CHN1 gene mutation analysis in patients with Duane retraction syndrome.
    Biler ED; Ilim O; Onay H; Uretmen O
    J AAPOS; 2017 Dec; 21(6):472-475.e2. PubMed ID: 29031989
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
    Zhou TC; Duan WH; Fu XL; Zhu Q; Guo LY; Zhou Y; Hua ZJ; Li XJ; Yang DM; Zhang JY; Yin J; Zhang XF; Zhou GL; Hu M
    Sci Rep; 2020 Oct; 10(1):16225. PubMed ID: 33004823
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.
    Wang M; Liu J; Pang H; Bu J
    Strabismus; 2024 Mar; 32(1):23-29. PubMed ID: 38509018
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome.
    Kato Z; Yamagishi A; Kondo N
    J AAPOS; 2007 Feb; 11(1):62-4. PubMed ID: 17126050
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expansion of the CHN1 strabismus phenotype.
    Miyake N; Demer JL; Shaaban S; Andrews C; Chan WM; Christiansen SP; Hunter DG; Engle EC
    Invest Ophthalmol Vis Sci; 2011 Aug; 52(9):6321-8. PubMed ID: 21715346
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
    Zhang R; Jia H; Chang Q; Zhang Z; Peng C; Ma Q; Liang Y; Yang S; Jiao Y
    J Hum Genet; 2024 Jan; 69(1):33-39. PubMed ID: 37853116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Unilateral Duane's retraction syndrome (Type 1).
    Miller NR; Kiel SM; Green WR; Clark AW
    Arch Ophthalmol; 1982 Sep; 100(9):1468-72. PubMed ID: 7115176
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
    Chan WM; Miyake N; Zhu-Tam L; Andrews C; Engle EC
    Arch Ophthalmol; 2011 May; 129(5):649-52. PubMed ID: 21555619
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case report: Duane Retraction Syndrome associated with hand anomaly.
    Jafari AK; Ameri A; Anvari F; Akbari MR
    Binocul Vis Strabismus Q; 2010; 25(3):159-63. PubMed ID: 20923409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.
    Hwang JM; Seong MW; Kim JH; Park SS
    Graefes Arch Clin Exp Ophthalmol; 2015 Mar; 253(3):491-2. PubMed ID: 25331612
    [No Abstract]   [Full Text] [Related]  

  • 13. Bilateral Duane's retraction syndrome. A clinical-pathologic case report.
    Hotchkiss MG; Miller NR; Clark AW; Green WR
    Arch Ophthalmol; 1980 May; 98(5):870-4. PubMed ID: 7378011
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
    Abu-Amero KK; Bosley TM; Kondkar AA; Oystreck DT; Khan AO
    Semin Ophthalmol; 2015; 30(5-6):435-42. PubMed ID: 24475916
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Localization of a gene for Duane retraction syndrome to chromosome 2q31.
    Appukuttan B; Gillanders E; Juo SH; Freas-Lutz D; Ott S; Sood R; Van Auken A; Bailey-Wilson J; Wang X; Patel RJ; Robbins CM; Chung M; Annett G; Weinberg K; Borchert MS; Trent JM; Brownstein MJ; Stout JT
    Am J Hum Genet; 1999 Dec; 65(6):1639-46. PubMed ID: 10577917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.
    Sato Y; Tsukaguchi H; Morita H; Higasa K; Tran MTN; Hamada M; Usui T; Morito N; Horita S; Hayashi T; Takagi J; Yamaguchi I; Nguyen HT; Harada M; Inui K; Maruta Y; Inoue Y; Koiwa F; Sato H; Matsuda F; Ayabe S; Mizuno S; Sugiyama F; Takahashi S; Yoshimura A
    Kidney Int; 2018 Aug; 94(2):396-407. PubMed ID: 29779709
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
    Miyake N; Chilton J; Psatha M; Cheng L; Andrews C; Chan WM; Law K; Crosier M; Lindsay S; Cheung M; Allen J; Gutowski NJ; Ellard S; Young E; Iannaccone A; Appukuttan B; Stout JT; Christiansen S; Ciccarelli ML; Baldi A; Campioni M; Zenteno JC; Davenport D; Mariani LE; Sahin M; Guthrie S; Engle EC
    Science; 2008 Aug; 321(5890):839-43. PubMed ID: 18653847
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
    Volk AE; Fricke J; Strobl J; Kolling G; Kubisch C; Neugebauer A
    Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1351-7. PubMed ID: 20535495
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Does infantile abduction deficit indicate duane retraction syndrome until disproven?
    Kim JH; Hwang JM
    J Child Neurol; 2014 Nov; 29(11):NP151-3. PubMed ID: 24453144
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 9.