Literature DB >> 11186939

Germline and somatic mosaicism in achondroplasia.

S Henderson, D Sillence, J Loughlin, B Bennetts, B Sykes.   

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Year:  2000        PMID： 11186939      PMCID： PMC1734503          DOI： 10.1136/jmg.37.12.956

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


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  7 in total

1.  Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Authors:  Sahan V Rannan-Eliya; Indira B Taylor; I Marieke De Heer; Ans M W Van Den Ouweland; Steven A Wall; Andrew O M Wilkie
Journal:  Hum Genet       Date:  2004-07-07       Impact factor: 4.132

2.  Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Authors:  Anne Goriely; Helen Lord; Jasmine Lim; David Johnson; Tracy Lester; Helen V Firth; Andrew O M Wilkie
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

4.  The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

Authors:  Irene Tiemann-Boege; William Navidi; Raji Grewal; Dan Cohn; Brenda Eskenazi; Andrew J Wyrobek; Norman Arnheim
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-23       Impact factor: 11.205

5.  Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.

Authors:  Andrew O M Wilkie; Anne Goriely
Journal:  Prenat Diagn       Date:  2017-08-01       Impact factor: 3.050

Review 6.  Sperm mosaicism: implications for genomic diversity and disease.

Authors:  Martin W Breuss; Xiaoxu Yang; Joseph G Gleeson
Journal:  Trends Genet       Date:  2021-06-19       Impact factor: 11.821

7.  Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

Authors:  Muhammad Ajmal; Asif Mir; Muhammad Shoaib; Salman Akbar Malik; Muhammad Nasir
Journal:  Diagn Pathol       Date:  2017-07-05       Impact factor: 2.644
  7 in total

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