Similar articles for PMID: 10424811

Year	Number of Results
1988	1
1992	2
1993	5
1994	5
1995	2
1996	8
1997	9
1998	5
1999	5
2000	12
2001	6
2002	5
2003	4
2004	6
2005	13
2006	5
2007	8
2008	9
2009	7
2010	8
2011	10
2012	13
2013	14
2014	15
2015	12
2016	21
2017	16
2018	17
2019	19
2020	20
2021	27
2022	15
2023	11
2024	1

1

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER. Lam WW, et al. J Med Genet. 1999 Jul;36(7):518-23. J Med Genet. 1999. PMID: 10424811 Free PMC article.

2

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Engel JR, et al. J Med Genet. 2000 Dec;37(12):921-6. doi: 10.1136/jmg.37.12.921. J Med Genet. 2000. PMID: 11106355 Free PMC article.

3

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S. Brioude F, et al. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26077438

4

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Cooper WN, et al. Eur J Hum Genet. 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. Eur J Hum Genet. 2005. PMID: 15999116

5

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER. Catchpoole D, et al. J Med Genet. 1997 May;34(5):353-9. doi: 10.1136/jmg.34.5.353. J Med Genet. 1997. PMID: 9152830 Free PMC article.

6

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Li M, et al. Genomics. 2001 Jun 15;74(3):370-6. doi: 10.1006/geno.2001.6549. Genomics. 2001. PMID: 11414765

7

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. Lin HY, et al. Mol Genet Metab. 2016 Sep;119(1-2):8-13. doi: 10.1016/j.ymgme.2016.07.003. Epub 2016 Jul 12. Mol Genet Metab. 2016. PMID: 27436784

8

(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. Mussa A, et al. Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898929 Free PMC article.

9

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. Goldman M, et al. J Am Soc Nephrol. 2002 Aug;13(8):2077-84. doi: 10.1097/01.asn.0000023431.16173.55. J Am Soc Nephrol. 2002. PMID: 12138139

10

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Enklaar T, Zabel BU, Prawitt D. Enklaar T, et al. Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. doi: 10.1017/S1462399406000020. Expert Rev Mol Med. 2006. PMID: 16842655 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

299 results

Results by year