Literature DB >> 3594935

A final word on the tricho-rhino-phalangeal syndromes.

E M Bühler, U K Bühler, C Beutler, R Fessler.   

Abstract

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

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Year:  1987        PMID： 3594935     DOI： 10.1111/j.1399-0004.1987.tb02806.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  18 in total

1.  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

2.  The tricho-rhino-phalangeal syndromes I and II.

Authors:  L Mehta; P K Jain; R Saxena; I C Verma
Journal:  Indian J Pediatr       Date:  1992 May-Jun       Impact factor: 1.967

3.  Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

Authors:  R F Ogle; P Dalzell; G Turner; D Wass; M Y Yip
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Authors:  Andrew Dauber; Christelle Golzio; Cécile Guenot; Francine M Jodelka; Maria Kibaek; Susanne Kjaergaard; Bruno Leheup; Danielle Martinet; Malgorzata J M Nowaczyk; Jill A Rosenfeld; Susan Zeesman; Janice Zunich; Jacques S Beckmann; Joel N Hirschhorn; Michelle L Hastings; Sebastien Jacquemont; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2013-10-17       Impact factor: 11.025

5.  Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

Authors:  H J Lüdecke; R Burdiek; G Senger; U Claussen; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

Review 6.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

7.  Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

Authors:  K Naritomi; K Hirayama
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

Review 8.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

9.  Tricho-rhino-phalangeal syndrome type-1.

Authors:  M Suri; G Singh
Journal:  Indian J Pediatr       Date:  1993 Mar-Apr       Impact factor: 1.967

10.  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
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