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Journal Abstract Search

368 related items for PubMed ID: 26188272

  • 21. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.
    Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H.
    Am J Med Genet; 2002 May 01; 109(3):211-7. PubMed ID: 11977181
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  • 22. The impact of SETBP1 mutations in neurological diseases and cancer.
    Kohyanagi N, Ohama T.
    Genes Cells; 2023 Sep 01; 28(9):629-641. PubMed ID: 37489294
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  • 23. Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
    Yang H, Liu Z, Chen D, Lin W, Wang L, Chen T, Wang R, Yan X.
    Front Pediatr; 2022 Sep 01; 10():920741. PubMed ID: 36147799
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  • 24. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
    Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
    BMC Med Genet; 2016 Jun 10; 17(1):42. PubMed ID: 27282200
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  • 25. Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
    Watanabe S, Murayama A, Haginoya K, Tanaka S, Togashi N, Abukawa D, Sato A, Imaizumi M, Yoshikawa H, Takayama R, Wakusawa K, Kobayashi S, Sato I, Onuma A.
    Brain Dev; 2012 Feb 10; 34(2):151-5. PubMed ID: 21507589
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  • 27. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
    Oudesluijs G, Simon ME, Burggraaf RH, Waterham HR, Hennekam RC.
    Am J Med Genet A; 2012 Feb 10; 158A(2):292-7. PubMed ID: 22140078
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  • 28. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
    Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM.
    J Hum Genet; 2017 Apr 10; 62(4):465-471. PubMed ID: 28003643
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  • 31. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
    Campeau PM, Hennekam RC, DOORS syndrome collaborative group.
    Am J Med Genet C Semin Med Genet; 2014 Sep 10; 166C(3):327-32. PubMed ID: 25169651
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  • 33. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
    Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ.
    Hum Genet; 2015 Oct 10; 134(10):1089-97. PubMed ID: 26264464
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  • 34. A newborn diagnosed with van Maldergem syndrome.
    Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N.
    Clin Dysmorphol; 2018 Apr 10; 27(2):63-65. PubMed ID: 29505454
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  • 36. Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.
    Bulut O, Ince Z, Altunoglu U, Yildirim S, Coban A.
    Case Rep Genet; 2017 Apr 10; 2017():3740524. PubMed ID: 29333303
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  • 37. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 10; 23(5):633-8. PubMed ID: 24916641
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  • 40. Epilepsy in KCNH1-related syndromes.
    Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V.
    Epileptic Disord; 2016 Jun 01; 18(2):123-36. PubMed ID: 27267311
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