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 *

177 related articles for article (PubMed ID: 29016863)

  • 21. Congenital cranial dysinnervation disorders: a concept in evolution.
    Bosley TM; Abu-Amero KK; Oystreck DT
    Curr Opin Ophthalmol; 2013 Sep; 24(5):398-406. PubMed ID: 23872818
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Congenital fibrosis of thr ocular muscles: a diagnosis for several clinical pictures].
    Abeloos MC; Cordonnier M; Van Nechel C; Van Bogaert P; Gerard JM; Van Regemoorter N
    Bull Soc Belge Ophtalmol; 1990; 239():61-74. PubMed ID: 2133536
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
    Khan AO; Shinwari J; Omar A; Al-Sharif L; Khalil DS; Alanazi M; Al-Amri A; Al Tassan N
    Mol Vis; 2011 Jan; 17():218-24. PubMed ID: 21264235
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
    Chew S; Balasubramanian R; Chan WM; Kang PB; Andrews C; Webb BD; MacKinnon SE; Oystreck DT; Rankin J; Crawford TO; Geraghty M; Pomeroy SL; Crowley WF; Jabs EW; Hunter DG; Grant PE; Engle EC
    Brain; 2013 Feb; 136(Pt 2):522-35. PubMed ID: 23378218
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
    Ali Z; Xing C; Anwar D; Itani K; Weakley D; Gong X; Pascual JM; Mootha VV
    Mol Vis; 2014; 20():368-75. PubMed ID: 24715754
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.
    Dumars S; Andrews C; Chan WM; Engle EC; Demer JL
    J AAPOS; 2008 Aug; 12(4):381-9. PubMed ID: 18455936
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [A family history of congenital fibrosis of the extraocular muscle with autosomal dominant inheritance].
    Peng JH; Huang FS; Liu Y; Chai HY; Li L; Gong SX; Chen D; Zhou X
    Yi Chuan; 2005 Mar; 27(2):205-7. PubMed ID: 15843346
    [TBL] [Abstract][Full Text] [Related]  

  • 28. KIF21A variant R954W in familial or sporadic cases of CFEOM1.
    Rudolph G; Nentwich M; Hellebrand H; Pollack K; Gordes R; Bau V; Kampik A; Meindl A
    Eur J Ophthalmol; 2009; 19(4):667-74. PubMed ID: 19551685
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Congenital cranial dysinnervation disorders (CCDD)].
    Nentwich MM; Nentwich MF; Maertz J; Brandlhuber U; Rudolph G
    Klin Monbl Augenheilkd; 2015 Mar; 232(3):275-80. PubMed ID: 25803556
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Congenital monocular elevation deficiency associated with a novel
    Thomas MG; Maconachie GDE; Constantinescu CS; Chan WM; Barry B; Hisaund M; Sheth V; Kuht HJ; Dineen RA; Harieaswar S; Engle EC; Gottlob I
    Br J Ophthalmol; 2020 Apr; 104(4):547-550. PubMed ID: 31302631
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.
    Uyguner ZO; Toksoy G; Altunoglu U; Ozgur H; Basaran S; Kayserili H
    Eur J Med Genet; 2015; 58(6-7):358-63. PubMed ID: 26007620
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Congenital fibrosis of the extraocular muscles.
    Heidary G; Engle EC; Hunter DG
    Semin Ophthalmol; 2008; 23(1):3-8. PubMed ID: 18214786
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
    MacKinnon S; Oystreck DT; Andrews C; Chan WM; Hunter DG; Engle EC
    Ophthalmology; 2014 Jul; 121(7):1461-8. PubMed ID: 24612975
    [TBL] [Abstract][Full Text] [Related]  

  • 34. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
    Cederquist GY; Luchniak A; Tischfield MA; Peeva M; Song Y; Menezes MP; Chan WM; Andrews C; Chew S; Jamieson RV; Gomes L; Flaherty M; Grant PE; Gupta ML; Engle EC
    Hum Mol Genet; 2012 Dec; 21(26):5484-99. PubMed ID: 23001566
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
    Vogel M; Velleuer E; Schmidt-Jiménez LF; Mayatepek E; Borkhardt A; Alawi M; Kutsche K; Kortüm F
    Am J Med Genet A; 2016 Jul; 170(7):1813-9. PubMed ID: 27144914
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
    Wu J; Huang L; Zhou Y; Xie Y; Mo T; Li N
    Orphanet J Rare Dis; 2024 Aug; 19(1):300. PubMed ID: 39148141
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    Balasubramanian R; Chew S; MacKinnon SE; Kang PB; Andrews C; Chan WM; Engle EC
    J Clin Endocrinol Metab; 2015 Mar; 100(3):E473-7. PubMed ID: 25559402
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Ocular congenital fibrosis syndrome.
    Nemet P; Godel V; Ron S; Lazar M
    Metab Pediatr Syst Ophthalmol (1985); 1985; 8(4):172-4. PubMed ID: 3870953
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
    Bosley TM; Oystreck DT; Robertson RL; al Awad A; Abu-Amero K; Engle EC
    Brain; 2006 Sep; 129(Pt 9):2363-74. PubMed ID: 16815872
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The neuropathology of hereditary congenital facial palsy vs Möbius syndrome.
    Verzijl HT; van der Zwaag B; Lammens M; ten Donkelaar HJ; Padberg GW
    Neurology; 2005 Feb; 64(4):649-53. PubMed ID: 15728286
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.