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Journal Abstract Search

444 related items for PubMed ID: 22522086

  • 1. Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.
    Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC.
    Eur J Med Genet; 2012 Jun; 55(6-7):414-7. PubMed ID: 22522086
    [Abstract] [Full Text] [Related]

  • 2. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
    Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR, Baylor-Hopkins Center for Mendelian Genomics.
    Am J Med Genet A; 2015 Nov; 167A(11):2795-9. PubMed ID: 26238661
    [Abstract] [Full Text] [Related]

  • 3. Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background.
    Abdali HA, Duddu JR, Mubarak MJ, Mohamed AS.
    BMJ Case Rep; 2021 May 12; 14(5):. PubMed ID: 33980560
    [Abstract] [Full Text] [Related]

  • 4. Klippel-Feil syndrome with situs inversus--a rare association.
    Jalil J, Shafique M, Dar NR.
    J Coll Physicians Surg Pak; 2008 Apr 12; 18(4):248-9. PubMed ID: 18474164
    [Abstract] [Full Text] [Related]

  • 5. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
    Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.
    Hum Mutat; 2008 Aug 12; 29(8):1017-27. PubMed ID: 18425797
    [Abstract] [Full Text] [Related]

  • 6. Situs inversus and compressive myelopathy in Klippel Feil syndrome.
    Jain MK, Jain M, Baghel PK.
    J Assoc Physicians India; 2000 Sep 12; 48(9):928-9. PubMed ID: 11198799
    [No Abstract] [Full Text] [Related]

  • 7. Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
    Markunas CA, Soldano K, Dunlap K, Cope H, Asiimwe E, Stajich J, Enterline D, Grant G, Fuchs H, Gregory SG, Ashley-Koch AE.
    PLoS One; 2013 Sep 12; 8(4):e61521. PubMed ID: 23620759
    [Abstract] [Full Text] [Related]

  • 8. Report of a girl with Klippel-feil syndrome and Poland anomaly.
    Erol M, Caksen H, Tan O, Atik B, Unal O, Odabaş D.
    Genet Couns; 2004 Sep 12; 15(4):469-72. PubMed ID: 15658624
    [Abstract] [Full Text] [Related]

  • 9. Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.
    Isidor B, David A.
    Eur J Med Genet; 2015 Jan 12; 58(1):47-50. PubMed ID: 25463316
    [Abstract] [Full Text] [Related]

  • 10. The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
    Li Z, Zhao S, Cai S, Zhang Y, Wang L, Niu Y, Li X, Hu J, Chen J, Wang S, Wang H, Liu G, Tian Y, Wu Z, Zhang TJ, DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study, Wang Y, Wu N.
    BMC Musculoskelet Disord; 2020 Apr 11; 21(1):220. PubMed ID: 32278351
    [Abstract] [Full Text] [Related]

  • 11. [Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation].
    Guapi Nauñay VH, Martínez Carvajal IA.
    Rev Chil Pediatr; 2019 Apr 11; 90(2):194-201. PubMed ID: 31095236
    [Abstract] [Full Text] [Related]

  • 12. Klippel-Feil syndrome with atlanto-axial dislocation, anomalous vertebral artery, dextrocardia and situs inversus.
    Futane S, Salunke P.
    Clin Neurol Neurosurg; 2013 Oct 11; 115(10):2304-6. PubMed ID: 23998718
    [No Abstract] [Full Text] [Related]

  • 13. [Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].
    Li ZQ, Geng MZ, Zhao S, Wu ZH, Zhang JG, Wu N, Wang YP.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2021 Feb 28; 43(1):25-31. PubMed ID: 33663658
    [Abstract] [Full Text] [Related]

  • 14. Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.
    Da Broi M, Nouri A, Patet G, Paun L, Bartoli A, Molliqaj G, Schaller K, Tessitore E.
    J Med Case Rep; 2023 Dec 23; 17(1):528. PubMed ID: 38135884
    [Abstract] [Full Text] [Related]

  • 15.
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  • 16. Klippel-Feil syndrome associated with persistent trigeminal artery.
    Paksoy Y, SEker M, Kalkan E.
    Spine (Phila Pa 1976); 2004 May 01; 29(9):E193-6. PubMed ID: 15105686
    [Abstract] [Full Text] [Related]

  • 17. Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum.
    Cincinnati P, Midi P, Rutiloni C.
    Clin Dysmorphol; 2000 Oct 01; 9(4):291-2. PubMed ID: 11045589
    [Abstract] [Full Text] [Related]

  • 18. Thoracic disc protrusion and situs inversus in Klippel-Feil syndrome.
    al-Rajeh S, Chowdhary UM, al-Freihi H, al-Mohanna F.
    Spine (Phila Pa 1976); 1990 Dec 01; 15(12):1379-81. PubMed ID: 2281387
    [No Abstract] [Full Text] [Related]

  • 19. Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.
    Xu N, Hung KL, Gong X, Fan D, Tian Y, Yan M, Wei Y, Wang S.
    Orphanet J Rare Dis; 2024 Apr 01; 19(1):141. PubMed ID: 38561822
    [Abstract] [Full Text] [Related]

  • 20. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III.
    Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU.
    Spine (Phila Pa 1976); 1997 Feb 15; 22(4):396-401. PubMed ID: 9055366
    [Abstract] [Full Text] [Related]

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