Literature DB >> 1110452

Older paternal age and fresh gene mutation: data on additional disorders.

K L Jones, D W Smith, M A Harvey, B D Hall, L Quan.   

Abstract

Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

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Year:  1975        PMID: 1110452     DOI: 10.1016/s0022-3476(75)80709-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  43 in total

1.  Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.

Authors:  J L Prenner; G Binenbaum; D F Carpentieri; S M Goldstein; R S Douglas; E Ruchelli; J A Katowitz; R W Hertle
Journal:  Br J Ophthalmol       Date:  2002-04       Impact factor: 4.638

2.  The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

Authors:  V M Riccardi; C M Grum
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

Review 3.  Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

Authors:  Paul A Trainor
Journal:  Am J Med Genet A       Date:  2010-08-23       Impact factor: 2.802

4.  Focal dermal hypoplasia goltz's syndrome.

Authors:  R A Marsden
Journal:  Proc R Soc Med       Date:  1976-05

5.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

6.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

7.  Letter: Progeria in twins.

Authors:  D W Smith
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

Review 8.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

9.  [Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].

Authors:  H C Hopf; H Pilz; H H Althaus
Journal:  J Neurol       Date:  1976-04-23       Impact factor: 4.849

10.  Heat-labile enzymes in circulating erythrocytes of a progeria family.

Authors:  S Goldstein; E J Moerman
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

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