(Q21184003)

Dimensions

16 August 2022

Peter M Visscher

2

Peter M

Visscher

1 reference

Dimensions

16 August 2022

Kathryn E Kemper

1

Kathryn E

Kemper

1 reference

Dimensions

1051808415

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

16 August 2022

language of work or name

English

0 references

publication date

2012

0 references

5 references

20 August 2019

6 September 2019

19 September 2019

22 October 2019

19 November 2020

13

0 references

issue

4

0 references

page(s)

244

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Hundreds of variants clustered in genomic loci and biological pathways affect human height

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Between a chicken and a grape: estimating the number of human genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Finding the missing heritability of complex diseases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Reduced body weight is a common effect of gene knockout in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A common variant of HMGA2 is associated with adult and childhood height in the general population

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A single IGF1 allele is a major determinant of small size in dogs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The POU homeodomain protein OCT3 as a potential transcriptional activator for fibroblast growth factor-4 (FGF-4) in human breast cancer cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Clinical and genetic heterogeneity of hypochondroplasia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A simple genetic architecture underlies morphological variation in dogs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Many sequence variants affecting diversity of adult human height

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Identification of ten loci associated with height highlights new biological pathways in human growth

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Germline mutations in HRAS proto-oncogene cause Costello syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Requirement of FGF-4 for postimplantation mouse development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Common SNPs explain a large proportion of the heritability for human height

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Common and rare variants in multifactorial susceptibility to common diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genome-wide association analysis identifies 20 loci that influence adult height

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Rare and common variants: twenty arguments

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Abundant pleiotropy in human complex diseases and traits.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Recent progress in the study of the genetics of height

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The genetics of quantitative traits: challenges and prospects

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Common vs. rare allele hypotheses for complex diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

PTCH1 duplication in a family with microcephaly and mild developmental delay

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Medical management of Marfan syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Selection for Small and Large Body Size in the House Mouse

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Identification of mutations in CUL7 in 3-M syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

What is new in the Marfan syndrome?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Heterozygous TGFBR2 mutations in Marfan syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Costello syndrome: an overview

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Haploinsufficiency of NSD1 causes Sotos syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Genetically caused retarded growth in animals

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Holoprosencephaly: a family showing dominant inheritance and variable expression

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

The birth prevalence rates for the skeletal dysplasias

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Harmful recessive effects on fertility detected by absence of homozygous haplotypes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Standard growth curves for achondroplasia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Computational neuroanatomy of speech production.

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

QTL analysis and genomewide mutagenesis in mice: complementary genetic approaches to the dissection of complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

The future of model organisms in human disease research.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Genome-wide association studies for feedlot and growth traits in cattle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Polymorphic regions affecting human height also control stature in cattle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Genome-wide genetic association of complex traits in heterogeneous stock mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Is the energy homeostasis system inherently biased toward weight gain?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446298

Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

29 November 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2012-13-4-244

Paternal bias in parental origin of HRAS mutations in Costello syndrome

21 January 2018

1 reference

12 December 2020

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

1 reference

12 December 2020

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Inbred lines of mice derived from long-term growth selected lines: unique resources for mapping growth genes

1 reference

12 December 2020

Growth and maturation in Marfan syndrome

1 reference

12 December 2020

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

1 reference

12 December 2020

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

1 reference

12 December 2020

Hereditary dwarfism in pigs

1 reference

12 December 2020

A new mutation at the cmd locus in the mouse

1 reference

12 December 2020

Intestinal Secretory Defects and Dwarfism in Mice Lacking cGMP-Dependent Protein Kinase II

1 reference

12 December 2020

A dominant-negative mutation of the growth hormone receptor causes familial short stature

1 reference

12 December 2020

Phenotype: genotype relationships in growth hormone insensitivity syndrome

1 reference

12 December 2020

Genotype phenotype correlation in achondroplasia and hypochondroplasia

1 reference

12 December 2020

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

1 reference

12 December 2020

Identifiers

DOI

10.1186/GB-2012-13-4-244

0 references

10.1186/GB4016

1 reference

4049225

1051808415

0 references

4049225

1 reference

1 reference

1 reference