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135 related items for PubMed ID: 30610903

  • 1. Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
    Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T.
    Mol Cell Probes; 2019 Apr; 44():1-7. PubMed ID: 30610903
    [Abstract] [Full Text] [Related]

  • 2. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
    Eggermann T, Brück J, Knopp C, Fekete G, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M.
    J Mol Med (Berl); 2020 Oct; 98(10):1447-1455. PubMed ID: 32839827
    [Abstract] [Full Text] [Related]

  • 3. Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.
    Wesseler K, Kraft F, Eggermann T.
    Int J Mol Sci; 2019 Aug 28; 20(17):. PubMed ID: 31466347
    [Abstract] [Full Text] [Related]

  • 4. Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
    Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T.
    J Pediatr; 2017 Aug 28; 187():206-212.e1. PubMed ID: 28529015
    [Abstract] [Full Text] [Related]

  • 5. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
    Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T.
    Orphanet J Rare Dis; 2021 Jan 22; 16(1):42. PubMed ID: 33482836
    [Abstract] [Full Text] [Related]

  • 6. Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
    Fontana L, Bedeschi MF, Maitz S, Cereda A, Faré C, Motta S, Seresini A, D'Ursi P, Orro A, Pecile V, Calvello M, Selicorni A, Lalatta F, Milani D, Sirchia SM, Miozzo M, Tabano S.
    Epigenetics; 2018 Jan 22; 13(9):897-909. PubMed ID: 30221575
    [Abstract] [Full Text] [Related]

  • 7. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
    Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R.
    Am J Med Genet A; 2016 Oct 22; 170(10):2731-9. PubMed ID: 27374371
    [Abstract] [Full Text] [Related]

  • 8. Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
    Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T.
    Hum Reprod; 2012 Aug 22; 27(8):2541-8. PubMed ID: 22674207
    [Abstract] [Full Text] [Related]

  • 9. New developments in Silver-Russell syndrome and implications for clinical practice.
    Ishida M.
    Epigenomics; 2016 Apr 22; 8(4):563-80. PubMed ID: 27066913
    [Abstract] [Full Text] [Related]

  • 10. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
    Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T.
    BMC Med Genet; 2016 Mar 11; 17():20. PubMed ID: 26969265
    [Abstract] [Full Text] [Related]

  • 11. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
    Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z.
    Clin Epigenetics; 2022 Mar 16; 14(1):41. PubMed ID: 35296332
    [Abstract] [Full Text] [Related]

  • 12. Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.
    Cammarata-Scalisi F, Callea M, Stock F, Zambito V, Sparago Á, Riccio A.
    Arch Argent Pediatr; 2020 Jun 16; 118(3):e258-e264. PubMed ID: 32470262
    [Abstract] [Full Text] [Related]

  • 13. Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
    Alhendi ASN, Lim D, McKee S, McEntagart M, Tatton-Brown K, Temple IK, Davies JH, Mackay DJG.
    J Med Genet; 2022 Jun 16; 59(6):613-622. PubMed ID: 34135092
    [Abstract] [Full Text] [Related]

  • 14. Germline correction of an epimutation related to Silver-Russell syndrome.
    Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc'his D, Fauque P.
    Hum Mol Genet; 2015 Jun 15; 24(12):3314-21. PubMed ID: 25736213
    [Abstract] [Full Text] [Related]

  • 15. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
    Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ, International Clinical Imprinting Consortium.
    Am J Med Genet A; 2013 Sep 15; 161A(9):2174-82. PubMed ID: 23913548
    [Abstract] [Full Text] [Related]

  • 16. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
    Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T.
    Clin Epigenetics; 2022 Nov 07; 14(1):143. PubMed ID: 36345041
    [Abstract] [Full Text] [Related]

  • 17. First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
    Schlaich E, Hubens WHG, Eggermann T.
    Mol Genet Genomic Med; 2023 Dec 07; 11(12):e2264. PubMed ID: 37519217
    [Abstract] [Full Text] [Related]

  • 18. Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.
    Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Siu V, Rodenhiser D, Schwartz C, Sadikovic B.
    J Mol Diagn; 2017 Nov 07; 19(6):848-856. PubMed ID: 28807811
    [Abstract] [Full Text] [Related]

  • 19. Epigenetic and genetic diagnosis of Silver-Russell syndrome.
    Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M.
    Expert Rev Mol Diagn; 2012 Jun 07; 12(5):459-71. PubMed ID: 22702363
    [Abstract] [Full Text] [Related]

  • 20. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.
    Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D.
    Hum Mutat; 2013 Apr 07; 34(4):595-602. PubMed ID: 23335487
    [Abstract] [Full Text] [Related]

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