Literature DB >> 2277383

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

T Grimm1, B Müller, C R Müller, M Janka.   

Abstract

A newly formulated mutation selection equilibrium for lethal X linked recessive traits such as Duchenne muscular dystrophy is presented, which allows for both male and female germline mosaicism. Estimates of the additional parameters used are given, thus allowing the incorporation of germline mosaicism into the calculation of genetic risks.

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Year:  1990        PMID： 2277383      PMCID： PMC1017258          DOI： 10.1136/jmg.27.11.683

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


  30 in total

1.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  Achondroplasia in two sisters with normal parents.

Authors:  P Bowen
Journal:  Birth Defects Orig Artic Ser       Date:  1974

3.  Dominant ectrodactyly and possible germinal mosaicism.

Authors:  T J David
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

4.  Recurrence risks for germinal mosaics.

Authors:  D L Hartl
Journal:  Am J Hum Genet       Date:  1971-03       Impact factor: 11.025

5.  Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.

Authors:  J P Fryns; A Kleczkowska; H Verresen; H van den Berghe
Journal:  Clin Genet       Date:  1983-09       Impact factor: 4.438

6.  "Unstable premutation" in achondroplasia: penetrance vs phenotrance.

Authors:  J M Opitz
Journal:  Am J Med Genet       Date:  1984-10

7.  The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders.

Authors:  T Grimm
Journal:  Am J Hum Genet       Date:  1982-01       Impact factor: 11.025

8.  Possible gonadal mosaicism in a family with hemoglobin Köln.

Authors:  T B Bradley; R C Wohl; L D Petz; H A Perkins; R D Reynolds
Journal:  Johns Hopkins Med J       Date:  1980-06

9.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

10.  Achondroplasia: unexpected familial recurrence.

Authors:  C A Reiser; R M Pauli; J G Hall
Journal:  Am J Med Genet       Date:  1984-10
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  12 in total

1.  Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem.

Authors:  Konrad Oexle
Journal:  Eur J Pediatr       Date:  2006-02-07       Impact factor: 3.183

2.  Germinal "mosaicism"--germline mutation or chimerism?

Authors:  R Witkowski
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Germinal mosaicism and risk calculation in X-linked diseases.

Authors:  M Jeanpierre
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

4.  Genetic linkage analysis in the presence of germline mosaicism.

Authors:  Omer Weissbrod; Dan Geiger
Journal:  Stat Appl Genet Mol Biol       Date:  2011-10-04

5.  Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).

Authors:  B Müller; C Dechant; G Meng; S Liechti-Gallati; R A Doherty; J F Hejtmancik; E Bakker; A P Read; M Jeanpierre; K H Fischbeck
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

6.  Recurrence risk for germinal mosaics revisited.

Authors:  M A van der Meulen; M J van der Meulen; G J te Meerman
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

7.  Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

Authors:  J Zonana; M Jones; A Clarke; J Gault; B Muller; N S Thomas
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

8.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

9.  Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Authors:  A J van Essen; S Abbs; M Baiget; E Bakker; C Boileau; C van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

10.  On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

Authors:  T Grimm; G Meng; S Liechti-Gallati; T Bettecken; C R Müller; B Müller
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
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