Literature DB >> 16929068

Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.

N Eter, K Zerres, P Propping, P Roggenkämper, M Spitznas.   

Abstract

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Year:  2006        PMID： 16929068      PMCID： PMC1857391          DOI： 10.1136/bjo.2006.093088

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  10 in total

1.  ADULT syndrome allelic to limb mammary syndrome (LMS)?

Authors:  P Propping; W Friedl; T F Wienker; S Uhlhaas; K Zerres
Journal:  Am J Med Genet       Date:  2000-01-17

Review 2.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

3.  Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

Authors:  Anne M Slavotinek; June Tanaka; Alison Winder; Karin Vargervik; Anita Haggstrom; Michael Bamshad
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

4.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

5.  Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Authors:  J Celli; P Duijf; B C Hamel; M Bamshad; B Kramer; A P Smits; R Newbury-Ecob; R C Hennekam; G Van Buggenhout; A van Haeringen; C G Woods; A J van Essen; R de Waal; G Vriend; D A Haber; A Yang; F McKeon; H G Brunner; H van Bokhoven
Journal:  Cell       Date:  1999-10-15       Impact factor: 41.582

6.  TP63 gene mutation in ADULT syndrome.

Authors:  J Amiel; G Bougeard; C Francannet; V Raclin; A Munnich; S Lyonnet; T Frebourg
Journal:  Eur J Hum Genet       Date:  2001-08       Impact factor: 4.246

7.  Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

Authors:  Pascal H G Duijf; Kaate R J Vanmolkot; Peter Propping; Waltraut Friedl; Elmar Krieger; Frank McKeon; Volker Dötsch; Han G Brunner; Hans van Bokhoven
Journal:  Hum Mol Genet       Date:  2002-04-01       Impact factor: 6.150

8.  ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.

Authors:  I Chan; J I Harper; J E Mellerio; J A McGrath
Journal:  Clin Exp Dermatol       Date:  2004-11       Impact factor: 3.470

9.  Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly.

Authors:  Karen E O'Brien; Julie Shorrock; Diana W Bianchi
Journal:  J Ultrasound Med       Date:  2002-08       Impact factor: 2.153

10.  ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

Authors:  P Propping; K Zerres
Journal:  Am J Med Genet       Date:  1993-03-01
  10 in total
  2 in total

1.  ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Authors:  Tânia Kawasaki de Araujo; Elaine Lustosa-Mendes; Ana P Dos Santos; Miriam Coelho Molck; Roberta Mazzariol Volpe-Aquino; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-04-13

2.  Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

Authors:  Debangshu Ghosh; Somnath Saha; Sumit Kumar Basu
Journal:  Indian J Ophthalmol       Date:  2015-10       Impact factor: 1.848
  2 in total

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