420 related articles for article (PubMed ID: 32839827)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Lee BH; Kim GH; Oh TJ; Kim JH; Lee JJ; Choi SH; Lee JY; Kim JM; Choi IH; Kim YM; Choi JH; Yoo HW
J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Pignata L; Sparago A; Palumbo O; Andreucci E; Lapi E; Tenconi R; Carella M; Riccio A; Cerrato F
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33923683
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA; Yakoreva M; Kahre T; Mee P; Muru K; Joost K; Teek R; Soellner L; Eggermann T; Õunap K
Genet Test Mol Biomarkers; 2015 Dec; 19(12):684-91. PubMed ID: 26505556
[TBL] [Abstract][Full Text] [Related]
17. Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S; Bartolomei MS
Dis Model Mech; 2020 May; 13(5):. PubMed ID: 32424032
[TBL] [Abstract][Full Text] [Related]
18. Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes.
Liao J; Zeng TB; Pierce N; Tran DA; Singh P; Mann JR; Szabó PE
Cell Rep; 2021 Feb; 34(6):108729. PubMed ID: 33567274
[TBL] [Abstract][Full Text] [Related]
19. Imprinted disorders and growth.
Giabicani É; Brioude F; Le Bouc Y; Netchine I
Ann Endocrinol (Paris); 2017 Jun; 78(2):112-113. PubMed ID: 28478949
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
