Literature DB >> 8825057

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

J M McGaughran1, L Gaunt, J Dore, F Petrij, H G Dauwerse, D Donnai.   

Abstract

We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.

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Year:  1996        PMID： 8825057      PMCID： PMC1051820          DOI： 10.1136/jmg.33.1.82

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

2.  Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Authors:  D Lacombe; R Saura; L Taine; J Battin
Journal:  Am J Med Genet       Date:  1992-09-01

Review 3.  Etiology and recurrence risk in Rubinstein-Taybi syndrome.

Authors:  R C Hennekam; C A Stevens; J J Van de Kamp
Journal:  Am J Med Genet Suppl       Date:  1990

4.  Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

Authors:  K Imaizumi; Y Kuroki
Journal:  Am J Med Genet       Date:  1991-03-15

5.  Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Authors:  R C Hennekam; M Tilanus; B C Hamel; H Voshart-van Heeren; E C Mariman; S E van Beersum; M J van den Boogaard; M H Breuning
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

6.  Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Authors:  M Masuno; K Imaizumi; K Kurosawa; Y Makita; F Petrij; H G Dauwerse; M H Breuning; Y Kuroki
Journal:  Am J Med Genet       Date:  1994-12-01
  6 in total
  3 in total

1.  Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Authors:  R Wallerstein; C E Anderson; B Hay; P Gupta; L Gibas; K Ansari; F S Cowchock; V Weinblatt; C Reid; A Levitas; L Jackson
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Authors:  Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2010-02-03       Impact factor: 4.246

3.  Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Authors:  F Petrij; H G Dauwerse; R I Blough; R H Giles; J J van der Smagt; R Wallerstein; P D Maaswinkel-Mooy; C D van Karnebeek; G J van Ommen; A van Haeringen; J H Rubinstein; H M Saal; R C Hennekam; D J Peters; M H Breuning
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318
  3 in total

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