ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
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A systematic approach to mapping recessive disease genes in individuals from outbred populationsMega2: validated data-reformatting for linkage and association analysesLoss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationMutation of POC1B in a severe syndromic retinal ciliopathyLRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromePDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeLoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessFamilial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaCrisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilitySkeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaMutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disabilityNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneMutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Linkage analysis of alcohol dependence using MOD scores.A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseMutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossNovel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X.Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingMutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
P2860
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P2860
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@ast
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@en
type
label
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@ast
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@en
prefLabel
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@ast
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@en
P356
P1433
P1476
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
@en
P2093
Franz Rüschendorf
P304
P356
10.1093/BIOINFORMATICS/BTI264
P407
P577
2005-01-12T00:00:00Z