Literature DB >> 3613243

An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome.

Y Okano, Y Osasa, H Yamamoto, Y Hase, T Tsuruhara, H Fujita.   

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Year:  1986        PMID： 3613243     DOI： 10.1007/BF01907937

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN： 0021-5074


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  10 in total

1.  Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.

Authors:  M P Lee; M DeBaun; G Randhawa; B A Reichard; S J Elledge; A P Feinberg
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Authors:  Natalia Trpchevska; Ivanka Dimova; Tatyana Arabadji; Tanya Milachich; Svetlana Angelova; Magdalena Dimitrova; Mariela Hristova-Savova; Petya Andreeva; Tania Timeva; Atanas Shterev
Journal:  J Assist Reprod Genet       Date:  2017-02-24       Impact factor: 3.412

Review 3.  Overgrowth Syndrome.

Authors:  Yahan Li; Callum G Donnelly; Rocío Melissa Rivera
Journal:  Vet Clin North Am Food Anim Pract       Date:  2019-07       Impact factor: 3.357

4.  Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

Authors:  Jochen K Lennerz; Robert J Timmerman; Dorothy K Grange; Michael R DeBaun; Andrew P Feinberg; Barbara A Zehnbauer
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

Review 5.  Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors:  A Slavotinek; L Gaunt; D Donnai
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

6.  Congenital hyperinsulinism and mosaic abnormalities of the ploidy.

Authors:  I Giurgea; D Sanlaville; J-C Fournet; C Sempoux; C Bellanné-Chantelot; G Touati; L Hubert; M-S Groos; F Brunelle; J Rahier; J-C Henquin; M J Dunne; F Jaubert; J-J Robert; C Nihoul-Fékété; M Vekemans; C Junien; P de Lonlay
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

7.  Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

Authors:  N Tommerup; C A Brandt; S Pedersen; L Bolund; J Kamper
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

8.  Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.

Authors:  Carmen C Tong; Kelly A Duffy; David I Chu; Dana A Weiss; Arun K Srinivasan; Douglas A Canning; Jennifer M Kalish
Journal:  Urology       Date:  2016-09-07       Impact factor: 2.649

9.  A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci.

Authors:  C W Richard; M Boehnke; D J Berg; J H Lichy; T C Meeker; E Hauser; R M Myers; D R Cox
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

Review 10.  Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.

Authors:  Thomas Eggermann; Eamonn R Maher; Christian P Kratz; Dirk Prawitt
Journal:  Cancers (Basel)       Date:  2022-06-23       Impact factor: 6.575
  10 in total

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