(Q44957240)

7 December 2017

Triallelic inheritance: a bridge between Mendelian and multifactorial traits (English)

1 reference

7 December 2017

3

1 reference

7 December 2017

4

James R Lupski

1 reference

7 December 2017

Erica R Eichers

1

1 reference

PubMed ID

15224652

7 December 2017

Richard Alan Lewis

series ordinal

2

1 reference

PubMed ID

15224652

7 December 2017

language of work or name

English

0 references

publication date

1 January 2004

1 reference

7 December 2017

1 reference

7 December 2017

36

1 reference

7 December 2017

4

1 reference

7 December 2017

262-272

1 reference

Modifier genes convert "simple" Mendelian disorders to complex traits

7 December 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

The molecular genetics of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Beyond Mendel: an evolving view of human genetic disease transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Assembly of centrosomal proteins and microtubule organization depends on PCM-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890410026214

10.1080/07853890410026214

21 January 2018

Identifiers

DOI

1 reference

7 December 2017

1 reference

PubMed ID

15224652