Literature DB >> 7760316

Recurrence risk for germinal mosaics revisited.

M A van der Meulen1, M J van der Meulen, G J te Meerman.   

Abstract

A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables are given.

Mesh：

Year:  1995        PMID： 7760316      PMCID： PMC1050228          DOI： 10.1136/jmg.32.2.102

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


  10 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.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

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.  Gonadal mosaicism and genetic counseling for X-linked recessive lethals.

Authors:  E A Murphy; D W Cramer; R J Kryscio; C C Brown; E R Pierce
Journal:  Am J Hum Genet       Date:  1974-03       Impact factor: 11.025

5.  Recurrence risks for germinal mosaics.

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

6.  Recurrence risk of a new dominant mutation in children of unaffected parents.

Authors:  E M Wijsman
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

7.  Germline mosaicism and Duchenne muscular dystrophy mutations.

Authors:  E Bakker; C Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; W Van Hul; G J Van Ommen; A Vandenberghe; P L Pearson
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

8.  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

9.  Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Authors:  M R Passos-Bueno; E Bakker; A L Kneppers; R I Takata; D Rapaport; J T den Dunnen; M Zatz; G J van Ommen
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

Review 10.  Familiarity, recessivity and germline mosaicism.

Authors:  J H Edwards
Journal:  Ann Hum Genet       Date:  1989-01       Impact factor: 1.670
  10 in total
  12 in total

Review 1.  Bayesian analysis and risk assessment in genetic counseling and testing.

Authors:  Shuji Ogino; Robert B Wilson
Journal:  J Mol Diagn       Date:  2004-02       Impact factor: 5.568

2.  Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Authors:  Marie Hully; Juliette Ropars; Laurence Hubert; Nathalie Boddaert; Marlene Rio; Mathieu Bernardelli; Isabelle Desguerre; Valerie Cormier-Daire; Arnold Munnich; Pascale de Lonlay; Louise Reilly; Claude Besmond; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2016-10-10       Impact factor: 2.660

3.  Germ-line mosaicism in tuberous sclerosis: how common?

Authors:  V M Rose; K S Au; G Pollom; E S Roach; H R Prashner; H Northrup
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  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

5.  NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Authors:  Talia M Muram-Zborovski; Cecily P Vaughn; David H Viskochil; Heather Hanson; Rong Mao; David A Stevenson
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

6.  Bone parameters of elite athletes with oligomenorrhea and prevalence seeking medical attention: a cross-sectional study.

Authors:  Yuka Tsukahara; Suguru Torii; Fumihiro Yamasawa; Jun Iwamoto; Takanobu Otsuka; Hideyuki Goto; Torao Kusakabe; Hideo Matsumoto; Takao Akama
Journal:  J Bone Miner Metab       Date:  2021-06-08       Impact factor: 2.626

Review 7.  Von Hippel-Lindau Disease.

Authors:  Jennifer J Findeis-Hosey; Kelly Q McMahon; Sarah K Findeis
Journal:  J Pediatr Genet       Date:  2016-04-04

8.  Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Authors:  Kelly Q McMahon; Apostolos Papandreou; Mandy Ma; Brenda J Barry; Ghayda M Mirzaa; William B Dobyns; Richard H Scott; Natalie Trump; Manju A Kurian; Alex R Paciorkowski
Journal:  Am J Med Genet A       Date:  2015-09-14       Impact factor: 2.802

9.  A novel APC mosaicism in a patient with familial adenomatous polyposis.

Authors:  Moriya Iwaizumi; Hong Tao; Kiyoshi Yamaguchi; Hidetaka Yamada; Kazuya Shinmura; Tomoaki Kahyo; Yoshiyuki Yamanaka; Kiyotaka Kurachi; Ken Sugimoto; Yoichi Furukawa; Haruhiko Sugimura
Journal:  Hum Genome Var       Date:  2015-12-10

10.  Genetics and molecular biology of tuberous sclerosis complex.

Authors:  Valerio Napolioni; Paolo Curatolo
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236
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