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 *

163 related articles for article (PubMed ID: 31586326)

  • 21. Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.
    Donath X; Saint-Martin C; Dubois-Laforgue D; Rajasingham R; Mifsud F; Ciangura C; Timsit J; Bellanné-Chantelot C;
    BMC Med; 2019 Jul; 17(1):132. PubMed ID: 31291970
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
    Ellard S; Lango Allen H; De Franco E; Flanagan SE; Hysenaj G; Colclough K; Houghton JA; Shepherd M; Hattersley AT; Weedon MN; Caswell R
    Diabetologia; 2013 Sep; 56(9):1958-63. PubMed ID: 23771172
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia.
    Karatojima M; Furuta H; Matsutani N; Matsuno S; Tamai M; Komiya K; Morita S; Uraki S; Doi A; Furuta M; Iwakura H; Ariyasu H; Nishi M; Akamizu T
    J Diabetes; 2020 Jan; 12(1):21-24. PubMed ID: 31578783
    [No Abstract]   [Full Text] [Related]  

  • 24. [Towards a national standardisation of NGS studies in the diagnosis of myopathies].
    Krahn M; Cerino M; Campana-Salort E; Cossée M
    Med Sci (Paris); 2017 Nov; 33 Hors série n°1():30-33. PubMed ID: 29139383
    [No Abstract]   [Full Text] [Related]  

  • 25. Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
    Bansal V; Gassenhuber J; Phillips T; Oliveira G; Harbaugh R; Villarasa N; Topol EJ; Seufferlein T; Boehm BO
    BMC Med; 2017 Dec; 15(1):213. PubMed ID: 29207974
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
    Maiorana A; Barbetti F; Boiani A; Rufini V; Pizzoferro M; Francalanci P; Faletra F; Nichols CG; Grimaldi C; de Ville de Goyet J; Rahier J; Henquin JC; Dionisi-Vici C
    Clin Endocrinol (Oxf); 2014 Nov; 81(5):679-88. PubMed ID: 24383515
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism.
    Cherubini V; Bagalini LS; Ianilli A; Marigliano M; Biagioni M; Carnielli V; Iasonni V; Berbellini A; Hussain K; Gabrielli O
    J Pediatr Endocrinol Metab; 2010; 23(1-2):171-7. PubMed ID: 20432820
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.
    Goksen D; Evin F; Isik E; Ozen S; Atik T; Ozkinay F; Akcan N; Ozkan B; Buyukinan M; Nuri Ozbek M; Darcan S; Onay H
    Diabetes Res Clin Pract; 2023 Nov; 205():110953. PubMed ID: 37838154
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family.
    Johnson SR; Leo P; Conwell LS; Harris M; Brown MA; Duncan EL
    J Diabetes; 2018 Sep; 10(9):764-767. PubMed ID: 29726111
    [No Abstract]   [Full Text] [Related]  

  • 30. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
    Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
    Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
    [No Abstract]   [Full Text] [Related]  

  • 31. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
    Bellanné-Chantelot C; Saint-Martin C; Ribeiro MJ; Vaury C; Verkarre V; Arnoux JB; Valayannopoulos V; Gobrecht S; Sempoux C; Rahier J; Fournet JC; Jaubert F; Aigrain Y; Nihoul-Fékété C; de Lonlay P
    J Med Genet; 2010 Nov; 47(11):752-9. PubMed ID: 20685672
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Molecular diagnosis of diabetes mellitus].
    Broedl UC; Göke B
    Internist (Berl); 2006 Jan; 47(1):47-54. PubMed ID: 16283134
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders.
    Stanley CA
    J Clin Endocrinol Metab; 2016 Mar; 101(3):815-26. PubMed ID: 26908106
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
    Alkorta-Aranburu G; Sukhanova M; Carmody D; Hoffman T; Wysinger L; Keller-Ramey J; Li Z; Johnson AK; Kobiernicki F; Botes S; Fitzpatrick C; Das S; Del Gaudio D
    J Pediatr Endocrinol Metab; 2016 May; 29(5):523-31. PubMed ID: 26894574
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
    Sandal T; Laborie LB; Brusgaard K; Eide SA; Christesen HB; Søvik O; Njølstad PR; Molven A
    Clin Genet; 2009 May; 75(5):440-8. PubMed ID: 19475716
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
    De Franco E; Flanagan SE; Houghton JA; Lango Allen H; Mackay DJ; Temple IK; Ellard S; Hattersley AT
    Lancet; 2015 Sep; 386(9997):957-63. PubMed ID: 26231457
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.
    Ağladıoğlu SY; Aycan Z; Çetinkaya S; Baş VN; Önder A; Peltek Kendirci HN; Doğan H; Ceylaner S
    J Pediatr Endocrinol Metab; 2016 Apr; 29(4):487-96. PubMed ID: 26669242
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Diagnosis of neonatal and infancy-onset diabetes.
    Barbetti F
    Endocr Dev; 2007; 11():83-93. PubMed ID: 17986829
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
    Dallali H; Pezzilli S; Hechmi M; Sallem OK; Elouej S; Jmel H; Ben Halima Y; Chargui M; Gharbi M; Mercuri L; Alberico F; Mazza T; Bahlous A; Ben Ahmed M; Jamoussi H; Abid A; Trischitta V; Abdelhak S; Prudente S; Kefi R
    Acta Diabetol; 2019 May; 56(5):515-523. PubMed ID: 30656436
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center.
    Thomas ER; Brackenridge A; Kidd J; Kariyawasam D; Carroll P; Colclough K; Ellard S
    J Diabetes Investig; 2016 May; 7(3):332-7. PubMed ID: 27330718
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.