300 related articles for article (PubMed ID: 24658748)
1. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
Eggermann T; Heilsberg AK; Bens S; Siebert R; Beygo J; Buiting K; Begemann M; Soellner L
J Mol Med (Berl); 2014 Jul; 92(7):769-77. PubMed ID: 24658748
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
3. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
[TBL] [Abstract][Full Text] [Related]
4. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
Demars J; Gicquel C
Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955
[TBL] [Abstract][Full Text] [Related]
5. 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; 20(17):. PubMed ID: 31466347
[TBL] [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; 13(9):897-909. PubMed ID: 30221575
[TBL] [Abstract][Full Text] [Related]
7. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Demars J; Rossignol S; Netchine I; Lee KS; Shmela M; Faivre L; Weill J; Odent S; Azzi S; Callier P; Lucas J; Dubourg C; Andrieux J; Le Bouc Y; El-Osta A; Gicquel C
Hum Mutat; 2011 Oct; 32(10):1171-82. PubMed ID: 21780245
[TBL] [Abstract][Full Text] [Related]
8. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T; Brioude F; Russo S; Lombardi MP; Bliek J; Maher ER; Larizza L; Prawitt D; Netchine I; Gonzales M; Grønskov K; Tümer Z; Monk D; Mannens M; Chrzanowska K; Walasek MK; Begemann M; Soellner L; Eggermann K; Tenorio J; Nevado J; Moore GE; Mackay DJ; Temple K; Gillessen-Kaesbach G; Ogata T; Weksberg R; Algar E; Lapunzina P
Eur J Hum Genet; 2016 Jun; 24(6):784-93. PubMed ID: 26508573
[TBL] [Abstract][Full Text] [Related]
9. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Grosvenor SE; Davies JH; Lever M; Sillibourne J; Mackay DJG; Temple IK
Am J Med Genet A; 2022 Jun; 188(6):1896-1903. PubMed ID: 35266280
[TBL] [Abstract][Full Text] [Related]
10. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
[TBL] [Abstract][Full Text] [Related]
11. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I
Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383
[TBL] [Abstract][Full Text] [Related]
12. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
Begemann M; Spengler S; Kanber D; Haake A; Baudis M; Leisten I; Binder G; Markus S; Rupprecht T; Segerer H; Fricke-Otto S; Mühlenberg R; Siebert R; Buiting K; Eggermann T
Clin Genet; 2011 Jul; 80(1):83-8. PubMed ID: 20738330
[TBL] [Abstract][Full Text] [Related]
13. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
Schönherr N; Meyer E; Eggermann K; Ranke MB; Wollmann HA; Eggermann T
Eur J Med Genet; 2006; 49(5):414-8. PubMed ID: 16603426
[TBL] [Abstract][Full Text] [Related]
14. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
Schönherr N; Meyer E; Binder G; Wollmann HA; Eggermann T
J Pediatr Endocrinol Metab; 2007 Dec; 20(12):1329-31. PubMed ID: 18341093
[TBL] [Abstract][Full Text] [Related]
15. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Heide S; Chantot-Bastaraud S; Keren B; Harbison MD; Azzi S; Rossignol S; Michot C; Lackmy-Port Lys M; Demeer B; Heinrichs C; Newfield RS; Sarda P; Van Maldergem L; Trifard V; Giabicani E; Siffroi JP; Le Bouc Y; Netchine I; Brioude F
J Med Genet; 2018 Mar; 55(3):205-213. PubMed ID: 29223973
[TBL] [Abstract][Full Text] [Related]
16. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Mackay DJG; Bliek J; Lombardi MP; Russo S; Calzari L; Guzzetti S; Izzi C; Selicorni A; Melis D; Temple K; Maher E; Brioude F; Netchine I; Eggermann T
Genet Res (Camb); 2019 Mar; 101():e3. PubMed ID: 30829192
[TBL] [Abstract][Full Text] [Related]
17. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H; Higashimoto K
J Hum Genet; 2013 Jul; 58(7):402-9. PubMed ID: 23719190
[TBL] [Abstract][Full Text] [Related]
18. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
Eggermann T
Horm Res; 2009 Apr; 71 Suppl 2():30-5. PubMed ID: 19407494
[TBL] [Abstract][Full Text] [Related]
19. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann K; Bliek J; Brioude F; Algar E; Buiting K; Russo S; Tümer Z; Monk D; Moore G; Antoniadi T; Macdonald F; Netchine I; Lombardi P; Soellner L; Begemann M; Prawitt D; Maher ER; Mannens M; Riccio A; Weksberg R; Lapunzina P; Grønskov K; Mackay DJ; Eggermann T
Eur J Hum Genet; 2016 Oct; 24(10):1377-87. PubMed ID: 27165005
[TBL] [Abstract][Full Text] [Related]
20. Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Acosta-Fernández E; Corona-Rivera JR; Ríos-Flores IM; Torres-Anguiano E; Corona-Rivera A; Peña-Padilla C; Bobadilla-Morales L
Gac Med Mex; 2022; 158(4):202-209. PubMed ID: 36256576
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
