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 *

118 related articles for article (PubMed ID: 12949979)

  • 1. Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?
    Reardon W; McGinn M; King MD; Earley M
    Am J Med Genet A; 2003 Sep; 122A(1):84-8. PubMed ID: 12949979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Conductive deafness with ptosis and skeletal malformations in sibs: a probably autosomal recessive disorder.
    Jackson LG; Barr MA
    Birth Defects Orig Artic Ser; 1978; 14(6B):199-204. PubMed ID: 728561
    [No Abstract]   [Full Text] [Related]  

  • 3. Familial coarctation of the aortic arch with bilateral ptosis: a new syndrome?
    Cornel G; Sharratt GP; Virmani S; Rosales T; Lacson A
    J Pediatr Surg; 1987 Aug; 22(8):724-6. PubMed ID: 3656020
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
    Yomo A; Taira T; Kondo I
    Am J Med Genet; 1991 Nov; 41(2):188-91. PubMed ID: 1785632
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P; Lenz W
    Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.
    Chudley AE; McCullough C; McCullough DW
    Am J Med Genet; 1997 Jan; 68(3):350-6. PubMed ID: 9024571
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
    Fazeli W; Herkenrath P; Stiller B; Neugebauer A; Fricke J; Lang-Roth R; Nürnberg G; Thoenes M; Becker J; Altmüller J; Volk AE; Kubisch C; Heller R
    Hum Mol Genet; 2017 Oct; 26(20):4055-4066. PubMed ID: 29016863
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An 18p- syndrome due to 15/18 translocation with facial palsy and deafness.
    Adachi K; Hayashi M
    Tohoku J Exp Med; 1981 Mar; 133(3):307-11. PubMed ID: 7314083
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Alternating IV nerve palsy and ptosis as a first sign of childhood ocular myasthenia gravis.
    Chappaz A; Knirsch U; Gerth-Kahlert C
    Pediatr Neurol; 2015 Apr; 52(4):460-1. PubMed ID: 25661284
    [No Abstract]   [Full Text] [Related]  

  • 10. [Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems].
    Van Laere J
    Rev Neurol (Paris); 1966 Aug; 115(2):289-95. PubMed ID: 5969547
    [No Abstract]   [Full Text] [Related]  

  • 11. [Chronic progressive bulbopontine paralysis with deafness. A clinical syndrome].
    van Laere J
    Verh K Acad Geneeskd Belg; 1977; 39(3):126-58. PubMed ID: 605657
    [No Abstract]   [Full Text] [Related]  

  • 12. Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.
    Korf BR; Bresnan MJ; Shapiro F; Sotrel A; Abroms IF
    Ann Neurol; 1985 May; 17(5):513-6. PubMed ID: 4004175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive inheritance of Charcot-Marie-Tooth disease associated with sensorineural deafness.
    Cornell J; Sellars S; Beighton P
    Clin Genet; 1984 Feb; 25(2):163-5. PubMed ID: 6705250
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chudley-McCullough syndrome: expanded phenotype and review of the literature.
    Welch KO; Tekin M; Nance WE; Blanton SH; Arnos KS; Pandya A
    Am J Med Genet A; 2003 May; 119A(1):71-6. PubMed ID: 12707963
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Moebius' syndrome: a report of two cases.
    Jamal MN; Samara NS; Al-Lozi MT
    J Laryngol Otol; 1988 Apr; 102(4):350-2. PubMed ID: 3385327
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?
    Maximilian C; Ioan DM; Fryns JP
    Genet Couns; 1992; 3(2):115-8. PubMed ID: 1642809
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
    Beighton P; Gericke G; Kozlowski K; Grobler L
    Clin Genet; 1984 Oct; 26(4):308-17. PubMed ID: 6499247
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
    AlBakri A; Karaoui M; Alkuraya FS; Khan AO
    J AAPOS; 2015 Dec; 19(6):577-9. PubMed ID: 26691049
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.