Literature DB >> 4723882

Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

A Giedion, M Burdea, Z Fruchter, T Meloni, V Trosc.   

Abstract

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Year:  1973        PMID: 4723882

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


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  35 in total

1.  The widened spectrum of multiple cartilaginous exostosis (MCE).

Authors:  A Giedion; R Kesztler; F Muggiasca
Journal:  Pediatr Radiol       Date:  1975-03-20

2.  A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

Authors:  T Sasaki; H Tonoki; H Soejima; N Niikawa
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 3.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

4.  Quantitative trait loci for BMD in an SM/J by NZB/BlNJ intercross population and identification of Trps1 as a probable candidate gene.

Authors:  Naoki Ishimori; Ioannis M Stylianou; Ron Korstanje; Michael A Marion; Renhua Li; Leah Rae Donahue; Clifford J Rosen; Wesley G Beamer; Beverly Paigen; Gary A Churchill
Journal:  J Bone Miner Res       Date:  2008-09       Impact factor: 6.741

5.  The Co-Occurrence of Tricho-Rhino-Phalangeal Syndrome and Early-Onset Levodopa-Sensitive Parkinsonism.

Authors:  Franziska Hopfner; Almuth Caliebe; Günther Deuschl; Susanne A Schneider
Journal:  Mov Disord Clin Pract       Date:  2014-09-24

6.  Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.

Authors:  Katherine A Fantauzzo; Angela M Christiano
Journal:  Development       Date:  2011-11-24       Impact factor: 6.868

7.  A Danish kindred with tricho-rhino-phalangeal syndrome type I.

Authors:  C Gaardsted; E H Madsen; U Friedrich
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

8.  Tricho-rhino-phalangeal syndrome type I in a Belgian family.

Authors:  L A Verbruggen; C Van Laere; J Lamoureux; R Van Tiggelen
Journal:  Clin Rheumatol       Date:  1987-06       Impact factor: 2.980

9.  The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report.

Authors:  Ahmed Ghoneima; Kanwar Sachdeva; James Hartsfield; David Weaver; Katherine Kula
Journal:  J Orthod       Date:  2013-03

10.  Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.

Authors:  Talat H Malik; Dietrich Von Stechow; Roderick T Bronson; Ramesh A Shivdasani
Journal:  Mol Cell Biol       Date:  2002-12       Impact factor: 4.272

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