448 related articles for article (PubMed ID: 33810554)
1. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
[TBL] [Abstract][Full Text] [Related]
2. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Engel JR; Smallwood A; Harper A; Higgins MJ; Oshimura M; Reik W; Schofield PN; Maher ER
J Med Genet; 2000 Dec; 37(12):921-6. PubMed ID: 11106355
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Tenorio J; Romanelli V; Martin-Trujillo A; Fernández GM; Segovia M; Perandones C; Pérez Jurado LA; Esteller M; Fraga M; Arias P; Gordo G; Dapía I; Mena R; Palomares M; Pérez de Nanclares G; Nevado J; García-Miñaur S; Santos-Simarro F; Martinez-Glez V; Vallespín E; ; Monk D; Lapunzina P
Am J Med Genet A; 2016 Oct; 170(10):2740-9. PubMed ID: 27480579
[TBL] [Abstract][Full Text] [Related]
4. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
Robbins KM; Chen Z; Wells KD; Rivera RM
J Biomed Sci; 2012 Nov; 19(1):95. PubMed ID: 23153226
[TBL] [Abstract][Full Text] [Related]
5. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Fontana L; Bedeschi MF; Cagnoli GA; Costanza J; Persico N; Gangi S; Porro M; Ajmone PF; Colapietro P; Santaniello C; Crippa M; Sirchia SM; Miozzo M; Tabano S
Mol Genet Genomic Med; 2020 Sep; 8(9):e1386. PubMed ID: 32627967
[TBL] [Abstract][Full Text] [Related]
6. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S; Abi Habib W; Netchine I
Curr Opin Endocrinol Diabetes Obes; 2014 Feb; 21(1):30-8. PubMed ID: 24322424
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.
Higashimoto K; Soejima H; Saito T; Okumura K; Mukai T
Cytogenet Genome Res; 2006; 113(1-4):306-12. PubMed ID: 16575194
[TBL] [Abstract][Full Text] [Related]
11. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
Sperandeo MP; Ungaro P; Vernucci M; Pedone PV; Cerrato F; Perone L; Casola S; Cubellis MV; Bruni CB; Andria G; Sebastio G; Riccio A
Am J Hum Genet; 2000 Mar; 66(3):841-7. PubMed ID: 10712200
[TBL] [Abstract][Full Text] [Related]
12. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
[TBL] [Abstract][Full Text] [Related]
13. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Maas SM; Vansenne F; Kadouch DJ; Ibrahim A; Bliek J; Hopman S; Mannens MM; Merks JH; Maher ER; Hennekam RC
Am J Med Genet A; 2016 Sep; 170(9):2248-60. PubMed ID: 27419809
[TBL] [Abstract][Full Text] [Related]
14. Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
Rovina D; La Vecchia M; Cortesi A; Fontana L; Pesant M; Maitz S; Tabano S; Bodega B; Miozzo M; Sirchia SM
Sci Rep; 2020 May; 10(1):8275. PubMed ID: 32427849
[TBL] [Abstract][Full Text] [Related]
15. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Lin HY; Chuang CK; Tu RY; Fang YY; Su YN; Chen CP; Chang CY; Liu HC; Chu TH; Niu DM; Lin SP
Mol Genet Metab; 2016 Sep; 119(1-2):8-13. PubMed ID: 27436784
[TBL] [Abstract][Full Text] [Related]
16. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Weksberg R; Shuman C; Caluseriu O; Smith AC; Fei YL; Nishikawa J; Stockley TL; Best L; Chitayat D; Olney A; Ives E; Schneider A; Bestor TH; Li M; Sadowski P; Squire J
Hum Mol Genet; 2002 May; 11(11):1317-25. PubMed ID: 12019213
[TBL] [Abstract][Full Text] [Related]
17. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
Bedeschi MF; Calvello M; Paganini L; Pezzani L; Baccarin M; Fontana L; Sirchia SM; Guerneri S; Canazza L; Leva E; Colombo L; Lalatta F; Mosca F; Tabano S; Miozzo M
BMC Med Genet; 2017 Oct; 18(1):115. PubMed ID: 29047350
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A; Russo S; De Crescenzo A; Freschi A; Calzari L; Maitz S; Macchiaiolo M; Molinatto C; Baldassarre G; Mariani M; Tarani L; Bedeschi MF; Milani D; Melis D; Bartuli A; Cubellis MV; Selicorni A; Cirillo Silengo M; Larizza L; Riccio A; Ferrero GB
Eur J Hum Genet; 2016 Feb; 24(2):183-90. PubMed ID: 25898929
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
