Literature DB >> 1997385

Consanguinity sans reproche.

L P Ten Kate1, H Scheffer, M C Cornel, J G van Lookeren Campagne.   

Abstract

In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

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Year:  1991        PMID： 1997385     DOI： 10.1007/bf00202413

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.

Authors:  H Scheffer; D J Bruinvels; G J te Meerman; E Verlind; D Penninga; J Dankert; L P Ten Kate; C H Buys
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  Cystic fibrosis in the Netherlands.

Authors:  L P Ten Kate
Journal:  Int J Epidemiol       Date:  1977-03       Impact factor: 7.196

3.  A simple non-graphic method for pedigree description and analysis.

Authors:  T Schaap; M M Cohen
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

4.  Nomogram for estimating specific consanguinity risks.

Authors:  R Cruz-Coke
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318
  4 in total
  8 in total

1.  The effect of population stratification on the frequency of compound heterozygosity.

Authors:  Andrew D J Overall
Journal:  Genetica       Date:  2011-03-10       Impact factor: 1.082

2.  Second cousins with cystic fibrosis and no common ancestor who is a carrier.

Authors:  L P Ten Kate
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

3.  Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Arno G Motulsky; Alan Bittles; Louanne Hudgins; Stefanie Uhrich; Debra Lochner Doyle; Kerry Silvey; C Ronald Scott; Edith Cheng; Barbara McGillivray; Robert D Steiner; Debra Olson
Journal:  J Genet Couns       Date:  2002-04       Impact factor: 2.537

4.  Low segregation ratios in autosomal recessive disorders.

Authors:  J C Oosterwijk
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

5.  Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability.

Authors:  Leo P ten Kate
Journal:  Int J Legal Med       Date:  2009-08-11       Impact factor: 2.686

6.  Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes.

Authors:  Leo P Ten Kate; Marieke Teeuw; Lidewij Henneman; Martina C Cornel
Journal:  J Community Genet       Date:  2010-02-25

7.  Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Authors:  Daniela A Braun; Markus Schueler; Jan Halbritter; Heon Yung Gee; Jonathan D Porath; Jennifer A Lawson; Rannar Airik; Shirlee Shril; Susan J Allen; Deborah Stein; Adila Al Kindy; Bodo B Beck; Nurcan Cengiz; Khemchand N Moorani; Fatih Ozaltin; Seema Hashmi; John A Sayer; Detlef Bockenhauer; Neveen A Soliman; Edgar A Otto; Richard P Lifton; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2016-02       Impact factor: 10.612

8.  Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Authors:  Pawaree Saisawat; Stefan Kohl; Alina C Hilger; Daw-Yang Hwang; Heon Yung Gee; Gabriel C Dworschak; Velibor Tasic; Tracie Pennimpede; Sivakumar Natarajan; Ethan Sperry; Danilo S Matassa; Nataša Stajić; Radovan Bogdanovic; Ivo de Blaauw; Carlo L M Marcelis; Charlotte H W Wijers; Enrika Bartels; Eberhard Schmiedeke; Dominik Schmidt; Stefanie Märzheuser; Sabine Grasshoff-Derr; Stefan Holland-Cunz; Michael Ludwig; Markus M Nöthen; Markus Draaken; Erwin Brosens; Hugo Heij; Dick Tibboel; Bernhard G Herrmann; Benjamin D Solomon; Annelies de Klein; Iris A L M van Rooij; Franca Esposito; Heiko M Reutter; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2013-10-23       Impact factor: 10.612
  8 in total

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