Literature DB >> 26886494

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

J Heichel1, T Bredehorn-Mayr2, K Böhm2, M Linné3, S Riedel3, H G Struck2.   

Abstract

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Year:  2016        PMID： 26886494     DOI： 10.1007/s00106-016-0132-z

Source DB:  PubMed          Journal:  HNO        ISSN： 0017-6192            Impact factor:   1.284


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  10 in total

1.  Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Authors:  I Coupry; C Roudaut; M Stef; M-A Delrue; M Marche; I Burgelin; L Taine; C Cruaud; D Lacombe; B Arveiler
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

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

Review 3.  Rubinstein-Taybi syndrome: clinical and molecular overview.

Authors:  Jeroen H Roelfsema; Dorien J M Peters
Journal:  Expert Rev Mol Med       Date:  2007-08-20       Impact factor: 5.600

4.  Rubinstein-Taybi syndrome: a natural history study.

Authors:  C A Stevens; J C Carey; B L Blackburn
Journal:  Am J Med Genet Suppl       Date:  1990

Review 5.  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

6.  DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Authors:  Oliver Bartsch; Stefanie Schmidt; Marion Richter; Susanne Morlot; Eva Seemanová; Glenis Wiebe; Sasan Rasi
Journal:  Hum Genet       Date:  2005-07-14       Impact factor: 4.132

7.  Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Authors:  Jeroen H Roelfsema; Stefan J White; Yavuz Ariyürek; Deborah Bartholdi; Dunja Niedrist; Francesco Papadia; Carlos A Bacino; Johan T den Dunnen; Gert-Jan B van Ommen; Martijn H Breuning; Raoul C Hennekam; Dorien J M Peters
Journal:  Am J Hum Genet       Date:  2005-02-10       Impact factor: 11.025

8.  Stenosis of the lachrymal system in Rubinstein-Taybi syndrome.

Authors:  Andrea Marabotti; Guido Giannecchini; Anna Cariello; Carla Cappelli; Iacopo Giannecchini; Andrea Bedei
Journal:  Ophthalmologica       Date:  2002 Jul-Aug       Impact factor: 3.250

Review 9.  Rubinstein-Taybi syndrome medical guidelines.

Authors:  Susan Wiley; Susan Swayne; Jack H Rubinstein; Nancy E Lanphear; Cathy A Stevens
Journal:  Am J Med Genet A       Date:  2003-06-01       Impact factor: 2.802

10.  Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

Authors:  Pierluigi Marzuillo; Anna Grandone; Ruggero Coppola; Domenico Cozzolino; Adalgisa Festa; Federica Messa; Caterina Luongo; Emanuele Miraglia Del Giudice; Laura Perrone
Journal:  BMC Med Genet       Date:  2013-02-23       Impact factor: 2.103
  10 in total
  3 in total

Review 1.  [Minimally invasive diagnostics and therapy of congenital nasolacrimal duct obstruction].

Authors:  J Heichel; H-G Struck
Journal:  Ophthalmologe       Date:  2017-05       Impact factor: 1.059

2.  [Low-dose helical CT-dacryocystography in nasolacrimal duct obstruction-a prospective study].

Authors:  O Reichel; F Gora; M Dittrich; V Kugler
Journal:  HNO       Date:  2019-08       Impact factor: 1.284

Review 3.  [Recognition and prevention of problems in lacrimal duct surgery].

Authors:  T Kühnel
Journal:  HNO       Date:  2018-06       Impact factor: 1.284
  3 in total

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