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Journal Abstract Search

369 related items for PubMed ID: 26572961

  • 1.
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  • 2. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
    Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K.
    Am J Med Genet A; 2016 Dec; 170(12):3197-3206. PubMed ID: 27589201
    [Abstract] [Full Text] [Related]

  • 3. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.
    Endocr J; 2013 Dec; 60(4):403-8. PubMed ID: 23197114
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  • 4. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.
    Am J Med Genet A; 2015 Oct; 167A(10):2463-9. PubMed ID: 26219535
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  • 5. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
    Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S.
    Eur J Med Genet; 2020 Jan; 63(1):103632. PubMed ID: 30797057
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  • 6. Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
    Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF.
    Pediatr Dev Pathol; 2015 Jan; 18(3):237-44. PubMed ID: 25668678
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  • 7. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
    Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.
    J Clin Endocrinol Metab; 2005 Jul; 90(7):4376-82. PubMed ID: 15811927
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  • 8. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
    Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M.
    Hum Mol Genet; 2007 Feb 15; 16(4):374-9. PubMed ID: 17164262
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  • 9.
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  • 10. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec 15; 56(6):931-934. PubMed ID: 25521982
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  • 12. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.
    Fukuzawa R, Hata J, Hayashi Y, Ikeda H, Reeve AE.
    Pediatr Dev Pathol; 2003 Dec 15; 6(4):299-306. PubMed ID: 14692643
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  • 14. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
    Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    J Clin Invest; 1998 Oct 01; 102(7):1286-91. PubMed ID: 9769320
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  • 15. Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
    Macchiaiolo M, Markowich AH, Diociaiuti A, Gonfiantini MV, Buonuomo PS, Rana I, Monti L, El Hachem M, Bartuli A.
    Am J Med Genet A; 2020 Aug 01; 182(8):1972-1976. PubMed ID: 32573107
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  • 16. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
    [Abstract] [Full Text] [Related]

  • 17. Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
    Wieland I, Schanze I, Felgendreher IM, Barthlen W, Vogelgesang S, Mohnike K, Zenker M.
    Front Endocrinol (Lausanne); 2022 Jun 15; 13():1015244. PubMed ID: 36339418
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  • 18. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
    Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA.
    J Med Genet; 2016 Jan 15; 53(1):53-61. PubMed ID: 26545876
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  • 19. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
    Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3010-5. PubMed ID: 18000906
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  • 20. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
    Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R.
    Am J Med Genet A; 2013 Jan 15; 161A(1):13-20. PubMed ID: 23239666
    [Abstract] [Full Text] [Related]

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