(Q57395728)

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Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies

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scholarly article

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Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies (English)

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object named as

Kathrin Saar

3

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object named as

André Scherag

6

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Peter Nürnberg

12

object named as

Peter Nürnberg

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Johannes Hebebrand

14

object named as

Johannes Hebebrand

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author name string

Astrid Dempfle

1

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Stefan A. Wudy

2

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Sandra Hagemann

4

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Susann Friedel

5

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Lars D. Berthold

7

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Gerhard Alzen

8

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Ludwig Gortner

9

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Werner F. Blum

10

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Anke Hinney

11

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Helmut Schäfer

13

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publication date

7 August 2006

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Human Molecular Genetics

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15

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18

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2772-2783

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Constitutional delay of growth and adolescence

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Children with idiopathic short stature are poor eaters and have decreased body mass index.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

The genetic contribution to stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Major recessive gene(s) with considerable residual polygenic effect regulating adult height: confirmation of genomewide scan results for chromosomes 6, 9, and 12.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Major gene control of human body height, weight and BMI in five ethnically different populations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Regulation and disorders of pubertal timing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genetic approaches to stature, pubertal timing, and other complex traits

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genome scan for body mass index and height in the Framingham Heart Study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Loci contributing to adult height and body mass index in African American families ascertained for type 2 diabetes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

QTLs for height: results of a full genome scan in Dutch sibling pairs.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genetic studies in idiopathic short stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

SHOX mutations detected by FISH and direct sequencing in patients with short stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Sample size calculations for linkage analysis using extreme sib pairs based on segregation analysis with the quantitative phenotype body weight as an example

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Replication in genetic studies of complex traits.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Association between a protein polymorphism in the start codon of the vitamin D receptor gene and severe diabetic retinopathy in C-peptide-negative type 1 diabetes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Variants in the vitamin D receptor gene and asthma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genetics and biology of vitamin D receptor polymorphisms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Large upward bias in estimation of locus-specific effects from genomewide scans

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Vitamin D receptor alleles predict growth and bone density in girls.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Vitamin D receptor gene polymorphisms are linked to and associated with adult height.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A poly adenosine repeat in the human vitamin D receptor gene is associated with bone mineral density in young Swedish women

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Vitamin D receptor start codon polymorphism ( FokI) is related to bone mineral density in healthy adolescent boys

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Vitamin D receptor gene polymorphism predicts height and bone size, rather than bone density in children and young adults

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

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21 January 2018

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

The future of genetic studies of complex human diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

GPR54 and puberty

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

The GPR54 gene as a regulator of puberty

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

The oestrogen receptor alpha gene is linked and/or associated with age of menarche in different ethnic groups

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Statistical methods for assessing agreement between two methods of clinical measurement

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Genome scan for childhood and adolescent obesity in German families.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Mega2: data-handling for facilitating genetic linkage and association analyses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A class of tests for linkage using affected pedigree members

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Allele-sharing models: LOD scores and accurate linkage tests

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Powerful regression-based quantitative-trait linkage analysis of general pedigrees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Transmission/disequilibrium tests using multiple tightly linked markers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Confidence intervals for genotype relative risks and allele frequencies from the case parent trio design for candidate-gene studies.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Allegro version 2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

Multipoint quantitative-trait linkage analysis in general pedigrees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL218

21 January 2018

The significance of not finding a gene

1 reference

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21 January 2018

Identifiers

10.1093/HMG/DDL218

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