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Literature DB >> 13983033

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

J H RUBINSTEIN, H TAYBI.

Abstract

Entities: Disease Mutation

Keywords: FACE; FACIAL BONES; MENTAL DEFICIENCY; THUMB

Mesh：

Year: 1963 PMID： 13983033 DOI： 10.1001/archpedi.1963.02080040590010

Source DB: PubMed Journal: Am J Dis Child ISSN： 0002-922X

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Cited

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113 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

Review 2. The role of histone acetylation in memory formation and cognitive impairments.

Authors: Lucia Peixoto; Ted Abel
Journal: Neuropsychopharmacology Date: 2012-06-06 Impact factor: 7.853

3. Infantile glaucoma in Rubinstein-Taybi syndrome.

Authors: J DaCosta; J Brookes
Journal: Eye (Lond) Date: 2012-06-22 Impact factor: 3.775

4. [Bony lacrimal duct stenosis and hand abnormalities as signs of systemic disease].

Authors: J Heichel; T Bredehorn-Mayr; K Böhm; M Linné; S Riedel; H G Struck
Journal: HNO Date: 2016-06 Impact factor: 1.284

5. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Authors: Deborah Bartholdi; Jeroen H Roelfsema; Francesco Papadia; Martijn H Breuning; Dunja Niedrist; Raoul C Hennekam; Albert Schinzel; Dorien J M Peters
Journal: J Med Genet Date: 2007-01-12 Impact factor: 6.318

6. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Authors: Gloria Negri; Pamela Magini; Donatella Milani; Milena Crippa; Elisa Biamino; Maria Piccione; Stefano Sotgiu; Chiara Perrìa; Giuseppina Vitiello; Marina Frontali; Antonella Boni; Elisabetta Di Fede; Maria Chiara Gandini; Elisa Adele Colombo; Michael J Bamshad; Deborah A Nickerson; Joshua D Smith; Italia Loddo; Palma Finelli; Marco Seri; Tommaso Pippucci; Lidia Larizza; Cristina Gervasini
Journal: Hum Genet Date: 2019-02-26 Impact factor: 4.132

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

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

Review 2. The role of histone acetylation in memory formation and cognitive impairments.

3. Infantile glaucoma in Rubinstein-Taybi syndrome.

4. [Bony lacrimal duct stenosis and hand abnormalities as signs of systemic disease].

5. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

6. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Review 7. Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.

Review 8. Reversing neurodevelopmental disorders in adults.

9. Epigenetic mechanisms of Rubinstein-Taybi syndrome.

10. De Lange syndrome: report of 20 cases.