-
1
-
-
62149105139
-
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
-
Bartholdi D, et al. (2009) Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 46: 192-197
-
(2009)
J Med Genet
, vol.46
, pp. 192-197
-
-
Bartholdi, D.1
-
2
-
-
84894496213
-
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome
-
Baskin B, et al. (2014) High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet 133: 321-330
-
(2014)
Hum Genet
, vol.133
, pp. 321-330
-
-
Baskin, B.1
-
3
-
-
84860570025
-
Use of multilocus methylationspecific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
-
Begemann M, et al. (2012) Use of multilocus methylationspecific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci. Epigenetics 7: 473-481
-
(2012)
Epigenetics
, vol.7
, pp. 473-481
-
-
Begemann, M.1
-
4
-
-
67349253397
-
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
-
Bliek J, et al. (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Human Genet 17: 611-619
-
(2009)
Eur J Human Genet
, vol.17
, pp. 611-619
-
-
Bliek, J.1
-
5
-
-
84874435499
-
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: A detailed follow-up
-
Boonen SE, et al. (2013) Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care 36: 505-512
-
(2013)
Diabetes Care
, vol.36
, pp. 505-512
-
-
Boonen, S.E.1
-
6
-
-
84884967377
-
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
-
Calvello M, et al. (2013) Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Epigenetics 8: 1053-1060
-
(2013)
Epigenetics
, vol.8
, pp. 1053-1060
-
-
Calvello, M.1
-
7
-
-
0031940675
-
Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry
-
DeBaun MR, Tucker MA (1998) Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 132(3 Pt 1): 398-400
-
(1998)
J Pediatr
, vol.132
, Issue.3
, pp. 398-400
-
-
DeBaun, M.R.1
Tucker, M.A.2
-
8
-
-
84883197797
-
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
-
Dias RP, et al. (2013) Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. J Med Genetics 50: 635-639
-
(2013)
J Med Genetics
, vol.50
, pp. 635-639
-
-
Dias, R.P.1
-
9
-
-
84876482998
-
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotypephenotype correlation in an international cohort of patients
-
Docherty LE, et al. (2013) Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotypephenotype correlation in an international cohort of patients. Diabetologia 56: 758-762
-
(2013)
Diabetologia
, vol.56
, pp. 758-762
-
-
Docherty, L.E.1
-
10
-
-
84903300881
-
Additional molecular findings in 11p15-associated imprinting disorders: An urgent need for multi-locus testing
-
Eggermann T, et al. (2014) Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J Mol Med (Berl) 92: 769-777
-
(2014)
J Mol Med (Berl
, vol.92
, pp. 769-777
-
-
Eggermann, T.1
-
11
-
-
0028470672
-
Beckwith-Wiedemann syndrome
-
Elliott M, Maher ER (1994) Beckwith-Wiedemann syndrome. J Med Genet 31: 560-564
-
(1994)
J Med Genet
, vol.31
, pp. 560-564
-
-
Elliott, M.1
Maher, E.R.2
-
12
-
-
2642543386
-
A new growth chart for preterm babies: Babson and Bendas chart updated with recent data and a new format
-
Fenton TR (2003) A new growth chart for preterm babies: Babson and Bendas chart updated with recent data and a new format. BMC Pediatr 3: 13
-
(2003)
BMC Pediatr
, vol.3
, pp. 13
-
-
Fenton, T.R.1
-
13
-
-
0034967806
-
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
-
Gaston V, et al. (2001) Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 9: 409-418
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 409-418
-
-
Gaston, V.1
-
14
-
-
25144454048
-
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
-
Gicquel C, et al. (2005) Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37: 1003-1007
-
(2005)
Nat Genet
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
-
15
-
-
34548188589
-
Methylation-sensitive singlenucleotide primer extension (Ms-SNuPE) for quantitative measurement of DNA methylation
-
Gonzalgo ML, Liang G (2007) Methylation-sensitive singlenucleotide primer extension (Ms-SNuPE) for quantitative measurement of DNA methylation. Nat Protoc 2: 1931-1936
-
(2007)
Nat Protoc
, vol.2
, pp. 1931-1936
-
-
Gonzalgo, M.L.1
Liang, G.2
-
16
-
-
84982116690
-
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1, 000 subjects
-
Ibrahim A, et al. (2014) Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1, 000 subjects. Clin Epigenetics 6: 11
-
(2014)
Clin Epigenetics
, vol.6
, pp. 11
-
-
Ibrahim, A.1
-
17
-
-
0028004480
-
Cognitive abilities associated with the Silver-Russell syndrome
-
Lai KY, et al. (1994) Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 71: 490-496
-
(1994)
Arch Dis Child
, vol.71
, pp. 490-496
-
-
Lai, K.Y.1
-
18
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
Mackay DJG, et al. (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40: 949-951
-
(2008)
Nat Genet
, vol.40
, pp. 949-951
-
-
Djg, M.1
-
19
-
-
84925624182
-
Multilocus methylation defects in imprinting disorders
-
Mackay DJG, et al. (2015) Multilocus methylation defects in imprinting disorders. Biomol Concepts 6: 47-57
-
(2015)
Biomol Concepts
, vol.6
, pp. 47-57
-
-
Djg, M.1
-
20
-
-
84884988329
-
Prevalence of Beckwith-Wiedemann syndrome inNorth West of Italy
-
Mussa A, et al. (2013) Prevalence of Beckwith-Wiedemann syndrome inNorth West of Italy.AmJMed GenetA161: 2481-2486
-
(2013)
Am. J. Med. Genet.
, vol.A161
, pp. 2481-2486
-
-
Mussa, A.1
-
21
-
-
34547764390
-
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigeneticphenotypic correlations
-
Netchine I, et al. (2007) 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigeneticphenotypic correlations. J Clin Endocrinol Metab 92: 3148-3154
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
-
22
-
-
21644459589
-
Two sisters with Silver-Russell phenotype
-
Ounap K, et al. (2004) Two sisters with Silver-Russell phenotype. Am J Med Genet A 131: 301-306
-
(2004)
Am J Med Genet A
, vol.131
, pp. 301-306
-
-
Ounap, K.1
-
23
-
-
75449110360
-
Methylation profiling in individuals with Russell-Silver syndrome
-
Peñaherrera MS, et al. (2010) Methylation profiling in individuals with Russell-Silver syndrome. Am J Med Genet A 152A: 347-355
-
(2010)
Am J Med Genet A
, vol.152
, pp. 347-355
-
-
Peñaherrera, M.S.1
-
24
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
Price SM, et al. (1999) The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36: 837-842
-
(1999)
J Med Genet
, vol.36
, pp. 837-842
-
-
Price, S.M.1
-
25
-
-
0027231511
-
Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome
-
Schneid H, et al. (1993) Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. J Med Genet 30: 353-362
-
(1993)
J Med Genet
, vol.30
, pp. 353-362
-
-
Schneid, H.1
-
26
-
-
84876480059
-
Diabetes mellitus, 6q24-related transient neonatal
-
2005 updated Available at accessed May 20, 2015
-
Temple IK, Mackay DJG, Docherty LE (2005, updated 2015) Diabetes mellitus, 6q24-related transient neonatal. In Gene-Reviews. Available at: http: //www.ncbi.nlm.nih.gov/books/ NBK1534, accessed May 20, 2015
-
(2015)
Gene-Reviews
-
-
Temple, I.K.1
Djg, M.2
Docherty, L.E.3
-
28
-
-
84908555810
-
Coffin-Siris syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
-
Vals M-A, et al. (2014) Coffin-Siris syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. Eur J Hum Genet 22: 1327-1329
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 1327-1329
-
-
Vals, M.-A.1
-
29
-
-
84942094460
-
Familial 1.3Mb 11p15.5-15.4 duplication in three generations causing Silver-Russell and Beckwith-Wiedemann syndromes
-
Vals M-A, et al. (2015) Familial 1.3Mb 11p15.5-15.4 duplication in three generations causing Silver-Russell and Beckwith-Wiedemann syndromes. Mol Syndromol 6: 147-151
-
(2015)
Mol Syndromol
, vol.6
, pp. 147-151
-
-
Vals, M.-A.1
-
31
-
-
0027420362
-
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
-
Weksberg R, et al. (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5: 143-150
-
(1993)
Nat Genet
, vol.5
, pp. 143-150
-
-
Weksberg, R.1
|