BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 27173951)

  • 1. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
    Kocaay P; Şiklar Z; Ellard S; Yagmurlu A; Çamtosun E; Erden E; Berberoglu M; Flanagan SE
    Horm Res Paediatr; 2016; 85(6):421-5. PubMed ID: 27173951
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
    Shield JP; Flanagan SE; Mackay DJ; Harries LW; Proks P; Girard C; Ashcroft FM; Temple IK; Ellard S
    Diabetes; 2008 Jan; 57(1):255-8. PubMed ID: 17942821
    [TBL] [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; 60(4):403-8. PubMed ID: 23197114
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
    Hussain K
    Horm Res Paediatr; 2016; 85(6):426-7. PubMed ID: 27174046
    [No Abstract]   [Full Text] [Related]  

  • 7. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
    Calton EA; Temple IK; Mackay DJ; Lever M; Ellard S; Flanagan SE; Davies JH; Hussain K; Gray JC
    Eur J Med Genet; 2013 Feb; 56(2):114-7. PubMed ID: 23261959
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
    Hussain K; Flanagan SE; Smith VV; Ashworth M; Day M; Pierro A; Ellard S
    Diabetes; 2008 Jan; 57(1):259-63. PubMed ID: 17942822
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
    Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 53(1):53-61. PubMed ID: 26545876
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.
    Güemes M; Shah P; Roženková K; Gilbert C; Morgan K; Hussain K
    Horm Res Paediatr; 2016; 85(5):353-7. PubMed ID: 26863215
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE; Elliott M; Welham K; Carrera M; Schofield PN; Barton DE; Maher ER
    J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
    Damaj L; le Lorch M; Verkarre V; Werl C; Hubert L; Nihoul-Fékété C; Aigrain Y; de Keyzer Y; Romana SP; Bellanne-Chantelot C; de Lonlay P; Jaubert F
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4941-7. PubMed ID: 18796520
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 13():1015244. PubMed ID: 36339418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 56(6):931-934. PubMed ID: 25521982
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular mechanisms of neonatal hyperinsulinism.
    Giurgea I; Bellanné-Chantelot C; Ribeiro M; Hubert L; Sempoux C; Robert JJ; Blankenstein O; Hussain K; Brunelle F; Nihoul-Fékété C; Rahier J; Jaubert F; de Lonlay P
    Horm Res; 2006; 66(6):289-96. PubMed ID: 17003566
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
    Gogiel M; Begemann M; Spengler S; Soellner L; Göretzlehner U; Eggermann T; Strobl-Wildemann G
    Eur J Hum Genet; 2013 Jul; 21(7):788-91. PubMed ID: 23188046
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
    Flanagan S; Damhuis A; Banerjee I; Rokicki D; Jefferies C; Kapoor R; Hussain K; Ellard S
    Pediatr Diabetes; 2012 May; 13(3):285-9. PubMed ID: 21978130
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
    Kalish JM; Conlin LK; Mostoufi-Moab S; Wilkens AB; Mulchandani S; Zelley K; Kowalski M; Bhatti TR; Russo P; Mattei P; Mackenzie WG; LiVolsi V; Nichols KE; Biegel JA; Spinner NB; Deardorff MA
    Am J Med Genet A; 2013 May; 161A(5):993-1001. PubMed ID: 23532898
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.