Literature DB >> 3742849

Germinal mosaicism in Apert syndrome.

J E Allanson.   

Abstract

Two sisters with Apert acrocephalosyndactyly syndrome born to normal unrelated parents are described. Paternity studies show that the probability of paternity is 99.3%. This report appears to represent the first known example of germinal mosaicism in Apert syndrome.

Entities:  

Mesh：

Year:  1986        PMID： 3742849     DOI： 10.1111/j.1399-0004.1986.tb00516.x

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


  12 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

3.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

4.  Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case.

Authors:  A Giancotti; V D'Ambrosio; A De Filippis; C Aliberti; G Pasquali; S Bernardo; L Manganaro
Journal:  Childs Nerv Syst       Date:  2014-02-25       Impact factor: 1.475

Review 5.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

6.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

7.  Germinal mosaicism in Crouzon syndrome.

Authors:  S Kreiborg; M M Cohen
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

8.  Achondroplasia in sibs of normal parents.

Authors:  N Philip; M Auger; J F Mattei; F Giraud
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

9.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

10.  Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Authors:  W J Park; C Theda; N E Maestri; G A Meyers; J S Fryburg; C Dufresne; M M Cohen; E W Jabs
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.