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Literature DB >> 5642988

The Rubinstein-Taybi syndrome.

C J Padfield, M W Partington, N E Simpson.

Abstract

Entities: Disease

Mesh：

Year: 1968 PMID： 5642988 PMCID： PMC2019897 DOI： 10.1136/adc.43.227.94

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

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12 in total

1. BRACHYDACTYLY, PECULIAR FACIES AND MENTAL RETARDATION.

Authors: G S COFFIN
Journal: Am J Dis Child Date: 1964-10

2. 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

3. Broad thumbs and broad great toes with facial abnormalities and mental retardation.

Authors: C F Johnson
Journal: J Pediatr Date: 1966-06 Impact factor: 4.406

4. "Rubinstein-Taybi's syndrome".

Authors: J Jancar
Journal: J Ment Defic Res Date: 1965-12

5. Broad thumbs and toes and mental retardation. Unusual dermatoglyphic observations in two individuals.

Authors: G C Robinson; J R Miller; E G Cook; B Tischler
Journal: Am J Dis Child Date: 1966-03

6. Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.

Authors: T Kushnick
Journal: Am J Dis Child Date: 1966-01

7. Rubinstein-Taybi syndromes: broad thumbs and great toes, facial abnormalities and mental retardation. aA presentation of three cases.

Authors: R G McArthur
Journal: Can Med Assoc J Date: 1967-02-25 Impact factor: 8.262

8. Dermatoglyphics of the broad thumb and great toe syndrome.

Authors: J Giroux; J R Miller
Journal: Am J Dis Child Date: 1967-02

9. [On a case of the Rubinstein and Taybi syndrome].

Authors: N Principi
Journal: Minerva Pediatr Date: 1966-06-30 Impact factor: 1.312

10. Chromosome studies on randomly chosen men and women.

Authors: W M Brown; P A Jacobs; M Brunton
Journal: Lancet Date: 1965-09-18 Impact factor: 79.321

11 in total

Review 1. Beyond transcription factors: the role of chromatin modifying enzymes in regulating transcription required for memory.

Authors: Ruth M Barrett; Marcelo A Wood
Journal: Learn Mem Date: 2008-06-26 Impact factor: 2.460

2. Rubinstein-Taybi syndrome in a mother and son.

Authors: R C Hennekam; E J Lommen; J L Strengers; H G Van Spijker; T M Jansen-Kokx
Journal: Eur J Pediatr Date: 1989-02 Impact factor: 3.183

3. The Rubinstein-Taybi Syndrome: chromosomal studies.

Authors: N E Simpson
Journal: Am J Hum Genet Date: 1973-05 Impact factor: 11.025

4. The Bubinstein-Taybi syndrome: familial and dermatoglyphic data.

Authors: N E Simpson; J E Brissenden
Journal: Am J Hum Genet Date: 1973-05 Impact factor: 11.025

5. Multiple anomalies associated with a small extra metacentric autosome.

Authors: A B Mukherjee; M W Partington; N E Simpson; K A Walmsley
Journal: J Med Genet Date: 1968-12 Impact factor: 6.318

Review 6. Rubinstein-Taybi syndrome.

Authors: A C Berry
Journal: J Med Genet Date: 1987-09 Impact factor: 6.318

Review 7. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.

Authors: M M van Genderen; G F Kinds; F C Riemslag; R C Hennekam
Journal: Br J Ophthalmol Date: 2000-10 Impact factor: 4.638

8. Monozygotic twins discordant for rubinstein-taybi syndrome.

Authors: T Kajii; K Hagiwara; M Tsukahara; H Nakajima; Y Fukuda
Journal: J Med Genet Date: 1981-08 Impact factor: 6.318

Review 9. Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors: Silvia Spena; Cristina Gervasini; Donatella Milani
Journal: J Pediatr Genet Date: 2015-09-28

Review 10. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors: Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal: Ital J Pediatr Date: 2015-01-20 Impact factor: 2.638