Literature DB >> 7643360

De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

J H Hersh1, F F Yen, S C Peiper, M J Barch, O A Yacoub, D H Voss, J L Roberts.   

Abstract

A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.

Entities:  

Mesh：

Year:  1995        PMID： 7643360      PMCID： PMC1050379          DOI： 10.1136/jmg.32.4.293

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

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Authors:  C Stoll; B Dott; M P Roth; Y Alembik
Journal:  Clin Genet       Date:  1989-02       Impact factor: 4.438

2.  Thanatophoric dysplasia in identical twins.

Authors:  I D Young; I Patel; A C Lamont
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

3.  Letter: Thanatophoric dwarfism in triplets.

Authors:  A Sabry
Journal:  Lancet       Date:  1974-08-31       Impact factor: 79.321

4.  Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

Authors:  M W Partington; F Gonzales-Crussi; S G Khakee; D G Wollin
Journal:  Arch Dis Child       Date:  1971-10       Impact factor: 3.791

5.  Thanatophoric dysplasia of identical twins.

Authors:  F Serville; D Carles; P Maroteaux
Journal:  Am J Med Genet       Date:  1984-03

6.  Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia.

Authors:  W A Horton; D J Harris; D L Collins
Journal:  Am J Med Genet       Date:  1983-05

7.  [Thanatophoric dwarfism].

Authors:  P Maroteaux; M Lamy; J M Robert
Journal:  Presse Med       Date:  1967-11-22       Impact factor: 1.228

8.  Growth and development in thanatophoric dysplasia.

Authors:  I M MacDonald; A G Hunter; P M MacLeod; S B MacMurray
Journal:  Am J Med Genet       Date:  1989-08

9.  Abnormal ossification in thanatophoric dysplasia.

Authors:  W A Horton; O J Hood; M A Machado; S Ahmed; E S Griffey
Journal:  Bone       Date:  1988       Impact factor: 4.398

10.  Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.

Authors:  G Corsello; E Maresi; C Rossi; L Giuffrè; E Cittadini
Journal:  Am J Med Genet       Date:  1992-01-01
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