| scholarly article | Q13442814 |
| P50 | author | Merete Fredholm | Q28778502 |
| Carole Charlier | Q38305260 | ||
| Claus B Jørgensen | Q40393033 | ||
| Maria Longeri | Q43144527 | ||
| Robert J. Harvey | Q49489445 | ||
| Wouter Coppieters | Q108394474 | ||
| P2093 | author name string | Michel Georges | |
| Sébastien Vandeputte | |||
| Daniel Desmecht | |||
| Haisheng Nie | |||
| Matthew Kent | |||
| Patricia Simon | |||
| Kirsten Harvey | |||
| Latifa Karim | |||
| Nadine Cambisano | |||
| Corinne Fasquelle | |||
| Marc Dive | |||
| Frédéric Rollin | |||
| Xavier Hubin | |||
| Brian R Pearce | |||
| Eloisa Carta | |||
| Sigbjorn Lien | |||
| Jorgen S Agerholm | |||
| Roger Hanset | |||
| Sabrina Dardano | |||
| Jean-Claude Frennet | |||
| Nico Tama | |||
| P2860 | cites work | Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer | Q24307584 |
| Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease | Q24311805 | ||
| Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 | Q24315044 | ||
| Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease | Q24338670 | ||
| Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. | Q24531488 | ||
| Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis | Q28256460 | ||
| ABCA12 is the major harlequin ichthyosis gene | Q28257186 | ||
| Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children | Q29615807 | ||
| A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus. | Q31937610 | ||
| Calcium ion in skeletal muscle: its crucial role for muscle function, plasticity, and disease | Q33967669 | ||
| A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation | Q34475345 | ||
| Efficient mapping of mendelian traits in dogs through genome-wide association | Q34695793 | ||
| Novel multilocus measure of linkage disequilibrium to estimate past effective population size. | Q34994163 | ||
| Structural basis of ion pumping by Ca2+-ATPase of the sarcoplasmic reticulum | Q35799963 | ||
| Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases | Q36538928 | ||
| Inherited disorders in Danish cattle | Q36970690 | ||
| Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle | Q37228959 | ||
| Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality | Q44658571 | ||
| Functional and structural roles of critical amino acids within the"N", "P", and "A" domains of the Ca2+ ATPase (SERCA) headpiece | Q46517393 | ||
| Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology | Q49036360 | ||
| Renal lipofuscinosis in Danish slaughter cattle. | Q50542543 | ||
| Estimates of inbreeding and relationship among registered Holstein females in the United States. | Q50613900 | ||
| Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis. | Q54102875 | ||
| Ichthyosis in Chianina cattle | Q82973274 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 449-454 | |
| P577 | publication date | 2008-03-16 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Highly effective SNP-based association mapping and management of recessive defects in livestock | |
| P478 | volume | 40 |
| Q27316460 | A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle |
| Q27310057 | A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes |
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| Q37287327 | A critical analysis of production-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig. |
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| Q37071895 | A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle |
| Q34404939 | A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina |
| Q35938711 | A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle |
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| Q33416022 | A genome wide survey of SNP variation reveals the genetic structure of sheep breeds |
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| Q33752642 | A hidden markov model combining linkage and linkage disequilibrium information for haplotype reconstruction and quantitative trait locus fine mapping |
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| Q36208976 | A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle |
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| Q30648730 | C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. |
| Q24312161 | CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs |
| Q37605483 | Calcium pumps in health and disease |
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| Q33788304 | Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene |
| Q35154565 | DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle |
| Q30483303 | Defective glycinergic synaptic transmission in zebrafish motility mutants |
| Q47811357 | Detection of APAF1 mutation in Holstein cows and mummified foetuses in Japanese dairy herds. |
| Q30431871 | Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2 |
| Q37679180 | Distinct phenotypes in zebrafish models of human startle disease |
| Q26776051 | Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias |
| Q51439950 | E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle. |
| Q37858336 | Endoplasmic-reticulum calcium depletion and disease |
| Q84211489 | Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires |
| Q42220347 | Functional study of a genetic marker allele associated with resistance to Ascaris suum in pigs |
| Q36119956 | Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle |
| Q34693086 | Genetic variation in vitamin B-12 content of bovine milk and its association with SNP along the bovine genome |
| Q28754424 | Genome wide signatures of positive selection: the comparison of independent samples and the identification of regions associated to traits |
| Q57278748 | Genome-Wide Association Studies and Linkage Disequilibrium in Cattle |
| Q39817338 | Genome-wide association and genomic selection in animal breeding |
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| Q35503394 | Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle |
| Q35646474 | Genomic analysis for managing small and endangered populations: a case study in Tyrol Grey cattle |
| Q35843960 | Genomic prediction and genome-wide association study for dagginess and host internal parasite resistance in New Zealand sheep |
| Q35638683 | Genomic signatures reveal new evidences for selection of important traits in domestic cattle. |
| Q28079279 | Genomics advances the study of inbreeding depression in the wild |
| Q33694319 | Genomics and the future of conservation genetics |
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| Q46324951 | Ichthyosis fetalis in Polled Hereford and Shorthorn calves |
| Q45178891 | Ichthyosis fetalis in a cross-bred lamb |
| Q35049421 | Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. |
| Q46023528 | Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. |
| Q34563545 | Identification of a nonsense mutation in CWC15 associated with decreased reproductive efficiency in Jersey cattle |
| Q39631555 | Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom. |
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| Q38224198 | Inbreeding depression in livestock species: review and meta-analysis |
| Q43041172 | Inhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia |
| Q90856968 | Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data |
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