Published in J Mol Med (Berl) on February 20, 2002
Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome (2005) 1.03
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. BMC Med Genet (2006) 0.95
Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. Vet Immunol Immunopathol (2005) 0.87
A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig. Mamm Genome (2008) 0.86
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. BMC Genet (2011) 0.85
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS One (2013) 0.84
A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia. BMC Vet Res (2011) 0.77
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. G3 (Bethesda) (2016) 0.75
Congenital hypotrichosis and partial anodontia in a crossbred beef calf. Can Vet J (2007) 0.75
A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science (2008) 2.06
Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis. PLoS Genet (2013) 1.69
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet (2009) 1.68
A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies. PLoS Genet (2012) 1.66
Candidate genes for physical performance in the horse. Vet J (2010) 1.44
Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds. Neurogenetics (2004) 1.43
Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility. J Biol Chem (2005) 1.40
A genome-wide association study reveals loci influencing height and other conformation traits in horses. PLoS One (2012) 1.39
Genome-wide analysis reveals selection for important traits in domestic horse breeds. PLoS Genet (2013) 1.26
Fine mapping of the polled locus to a 1-Mb region on bovine chromosome 1q12. Mamm Genome (2005) 1.20
Genetic diversity in the modern horse illustrated from genome-wide SNP data. PLoS One (2013) 1.18
Spongiform encephalopathy in a miniature zebu. Emerg Infect Dis (2006) 1.17
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol (2007) 1.17
Influence of priors in Bayesian estimation of genetic parameters for multivariate threshold models using Gibbs sampling. Genet Sel Evol (2007) 1.16
Proposal to reclassify Paenibacillus larvae subsp. pulvifaciens DSM 3615 (ATCC 49843) as Paenibacillus larvae subsp. larvae. Results of a comparative biochemical and genetic study. Vet Microbiol (2004) 1.16
Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature (2012) 1.16
LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. Vet J (2011) 1.15
LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet (2011) 1.14
PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle. BMC Genet (2007) 1.13
Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet (2010) 1.13
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. PLoS Genet (2012) 1.11
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Gastroenterology (2008) 1.07
Osteogenesis imperfecta in dachshunds. Vet Rec (2013) 1.07
Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC Genet (2007) 1.06
European domestic horses originated in two holocene refugia. PLoS One (2011) 1.06
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One (2011) 1.05
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab (2006) 1.04
Mapping quantitative trait loci for canine hip dysplasia in German Shepherd dogs. Mamm Genome (2007) 1.04
Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A (2012) 1.04
Expression levels of LCORL are associated with body size in horses. PLoS One (2013) 1.03
Linking C5 deficiency to an exonic splicing enhancer mutation. J Immunol (2005) 1.03
German Francisella tularensis isolates from European brown hares (Lepus europaeus) reveal genetic and phenotypic diversity. BMC Microbiol (2013) 1.03
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet (2011) 1.02
A genome-wide association study to detect QTL for commercially important traits in Swiss Large White boars. PLoS One (2013) 1.02
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat (2006) 1.01
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet (2007) 1.01
High throughput detection of Coxiella burnetii by real-time PCR with internal control system and automated DNA preparation. BMC Microbiol (2008) 1.00
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Brief Funct Genomics (2010) 1.00
Single linkage group per chromosome genetic linkage map for the horse, based on two three-generation, full-sibling, crossbred horse reference families. Genomics (2005) 0.99
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab (2011) 0.99
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One (2013) 0.99
The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence. Mamm Genome (2006) 0.98
Unusual vascular ring anomaly associated with a persistent right aortic arch and an aberrant left subclavian artery in German pinschers. Vet J (2010) 0.98
Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Vet J (2005) 0.98
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med (2004) 0.97
Detection of papillary thyroid carcinoma by analysis of BRAF and RET/PTC1 mutations in fine-needle aspiration biopsies of thyroid nodules. World J Surg (2010) 0.97
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clin Endocrinol (Oxf) (2006) 0.95
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics (2008) 0.95
Intrathyroidal thymic tissue surrounding an intrathyroidal parathyroid gland, the cause of a solitary thyroid nodule in a 6-year-old boy. Thyroid (2008) 0.95
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One (2013) 0.95
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab (2003) 0.94
Biochemical typing of pathological prion protein in aging cattle with BSE. Virol J (2009) 0.94
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered (2007) 0.93
Identification of quantitative trait loci (QTL) for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs. PLoS One (2012) 0.93
Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation. Thyroid (2012) 0.93
Functional relevance of DNA polymorphisms within the promoter region of the prion protein gene and their association to BSE infection. FASEB J (2007) 0.92
A Single Nucleotide Polymorphism within the Interferon Gamma Receptor 2 Gene Perfectly Coincides with Polledness in Holstein Cattle. PLoS One (2013) 0.92
Two loci on chromosome 5 are associated with serum IgE levels in Labrador retrievers. PLoS One (2012) 0.92
A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One (2011) 0.91
Immunophenotyping of inflammatory cells associated with Schmallenberg virus infection of the central nervous system of ruminants. PLoS One (2013) 0.91
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis (2012) 0.90
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab (2004) 0.90
A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. PLoS One (2011) 0.89
Analysis of copy number variants by three detection algorithms and their association with body size in horses. BMC Genomics (2013) 0.89
Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis. Vet Dermatol (2002) 0.89
Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet (2005) 0.89
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf) (2007) 0.89
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genet Sel Evol (2003) 0.89
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab (2011) 0.89
[Review of literature and results from test matings of East Friesian milk sheep affected with brachygnathia inferior]. Berl Munch Tierarztl Wochenschr (2008) 0.89
[Congenital cardiac anomalies (pentalogy of Fallot) in a two year old ram with brachygnathia inferior]. Berl Munch Tierarztl Wochenschr (2013) 0.88
Arachnomelia in Brown Swiss cattle maps to chromosome 5. Mamm Genome (2008) 0.88
Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes. Dev Dyn (2013) 0.88
[Reproducibility of bovine neonatal pancytopenia (BNP) via the application of colostrum]. Berl Munch Tierarztl Wochenschr (2011) 0.87
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol (2008) 0.87
Epidermolysis bullosa in German black headed mutton sheep. Berl Munch Tierarztl Wochenschr (2010) 0.87
Nontoxigenic tox-bearing Corynebacterium ulcerans infection among game animals, Germany. Emerg Infect Dis (2014) 0.87
A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS One (2013) 0.86
Genetic and phenotypic trends in canine hip dysplasia in the German population of German shepherd dogs. Berl Munch Tierarztl Wochenschr (2008) 0.86
A 4 Mb high resolution BAC contig on bovine chromosome 1q12 and comparative analysis with human chromosome 21q22. Comp Funct Genomics (2005) 0.86
Hare-to-human transmission of Francisella tularensis subsp. holarctica, Germany. Emerg Infect Dis (2015) 0.86
Multiple Loci are associated with dilated cardiomyopathy in Irish wolfhounds. PLoS One (2012) 0.85
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. Thyroid (2013) 0.84
A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet (2013) 0.84
Cloning and characterization of the mammalian-specific nicolin 1 gene (NICN1) encoding a nuclear 24 kDa protein. Eur J Biochem (2002) 0.84
Further validation of the psychological injury risk indicator scale. J Occup Environ Med (2012) 0.84
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS One (2013) 0.84
Construction of a 1.2-Mb BAC/PAC contig of the porcine gene RYR1 region on SSC 6q1.2 and comparative analysis with HSA 19q13.13. Genomics (2002) 0.83
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. J Pediatr Endocrinol Metab (2011) 0.83
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab (2004) 0.83
Schmallenberg virus in central nervous system of ruminants. Emerg Infect Dis (2013) 0.83