126 related articles for article (PubMed ID: 8872040)
1. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].
Krajewska-Walasek M; Gutkowska A; Mospinek-Krasnopolska M; Chrzanowska K
Acta Genet Med Gemellol (Roma); 1996; 45(1-2):245-50. PubMed ID: 8872040
[TBL] [Abstract][Full Text] [Related]
2. Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
Brown KW; Gardner A; Williams JC; Mott MG; McDermott A; Maitland NJ
Cancer Genet Cytogenet; 1992 Jan; 58(1):66-70. PubMed ID: 1728953
[TBL] [Abstract][Full Text] [Related]
3. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
Slavotinek A; Gaunt L; Donnai D
J Med Genet; 1997 Oct; 34(10):819-26. PubMed ID: 9350814
[TBL] [Abstract][Full Text] [Related]
4. Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
Russo S; Finelli P; Recalcati MP; Ferraiuolo S; Cogliati F; Dalla Bernardina B; Tibiletti MG; Agosti M; Sala M; Bonati MT; Larizza L
J Med Genet; 2006 Aug; 43(8):e39. PubMed ID: 16882733
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Weksberg R; Teshima I; Williams BR; Greenberg CR; Pueschel SM; Chernos JE; Fowlow SB; Hoyme E; Anderson IJ; Whiteman DA
Hum Mol Genet; 1993 May; 2(5):549-56. PubMed ID: 8518793
[TBL] [Abstract][Full Text] [Related]
6. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Delicado A; Lapunzina P; Palomares M; Molina MA; Galán E; López Pajares I
Eur J Med Genet; 2005; 48(2):159-66. PubMed ID: 16053907
[TBL] [Abstract][Full Text] [Related]
7. Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
Tommerup N; Brandt CA; Pedersen S; Bolund L; Kamper J
J Med Genet; 1993 Nov; 30(11):958-61. PubMed ID: 8301654
[TBL] [Abstract][Full Text] [Related]
8. Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.
Henry I; Jeanpierre M; Couillin P; Barichard F; Serre JL; Journel H; Lamouroux A; Turleau C; de Grouchy J; Junien C
Hum Genet; 1989 Feb; 81(3):273-7. PubMed ID: 2921038
[TBL] [Abstract][Full Text] [Related]
9. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
Lekszas C; Nanda I; Vona B; Böck J; Ashrafzadeh F; Donyadideh N; Ebrahimzadeh F; Ahangari N; Maroofian R; Karimiani EG; Haaf T
BMC Med Genomics; 2019 Jun; 12(1):83. PubMed ID: 31174542
[TBL] [Abstract][Full Text] [Related]
10. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
South ST; Whitby H; Maxwell T; Aston E; Brothman AR; Carey JC
Am J Med Genet A; 2008 Oct; 146A(20):2691-7. PubMed ID: 18798325
[TBL] [Abstract][Full Text] [Related]
11. Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.
Turleau C; de Grouchy J; Chavin-Colin F; Martelli H; Voyer M; Charlas R
Hum Genet; 1984; 67(2):219-21. PubMed ID: 6745943
[TBL] [Abstract][Full Text] [Related]
12. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Cardarelli L; Sparago A; De Crescenzo A; Nalesso E; Zavan B; Cubellis MV; Selicorni A; Cavicchioli P; Pozzan GB; Petrella M; Riccio A
Pediatr Dev Pathol; 2010; 13(4):326-30. PubMed ID: 20028213
[TBL] [Abstract][Full Text] [Related]
13. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
Fisher AM; Thomas NS; Cockwell A; Stecko O; Kerr B; Temple IK; Clayton P
Hum Genet; 2002 Sep; 111(3):290-6. PubMed ID: 12215843
[TBL] [Abstract][Full Text] [Related]
14. 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; Le Bouc Y; Soupre V; Burglen L; Donadieu J; Oro H; Audry G; Vazquez MP; Gicquel C
Eur J Hum Genet; 2001 Jun; 9(6):409-18. PubMed ID: 11436121
[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. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
Baujat G; Rio M; Rossignol S; Sanlaville D; Lyonnet S; Le Merrer M; Munnich A; Gicquel C; Cormier-Daire V; Colleaux L
Am J Hum Genet; 2004 Apr; 74(4):715-20. PubMed ID: 14997421
[TBL] [Abstract][Full Text] [Related]
17. 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
J Med Genet; 1997 May; 34(5):353-9. PubMed ID: 9152830
[TBL] [Abstract][Full Text] [Related]
18. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Slatter RE; Elliott M; Welham K; Carrera M; Schofield PN; Barton DE; Maher ER
J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
[TBL] [Abstract][Full Text] [Related]
19. Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.
Journel H; Lucas J; Allaire C; Le Mée F; Defawe G; Lecornu M; Jouan H; Roussey M; Le Marec B
Ann Genet; 1985; 28(2):97-101. PubMed ID: 3876070
[TBL] [Abstract][Full Text] [Related]
20. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
Takama Y; Kubota A; Nakayama M; Higashimoto K; Jozaki K; Soejima H
Pediatr Int; 2014 Dec; 56(6):931-934. PubMed ID: 25521982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]