ライフサイエンスコーパス: Mendelian inheritance

1 The first level simply assumes Mendelian inheritance.

2 eous disorders with frequent sporadic or non-Mendelian inheritance.

3 34) of loci analyzed, consistent with normal Mendelian inheritance.

4 ssays to consistently generate and track non-Mendelian inheritance.

5 bility and 99.995% genotypes consistent with mendelian inheritance.

6 and transmitted through meiosis following a Mendelian inheritance.

7 s in Parkinson disease: Mendelian versus non-Mendelian inheritance.

8 ikely to be mutated in genetic diseases with Mendelian inheritance.

9 were transmitted through meiosis following a Mendelian inheritance.

10 iosis in eukaryotes is the physical basis of Mendelian inheritance.

11 for resistancesusceptibility as expected for Mendelian inheritance.

12 mice observed was lower than expected under mendelian inheritance.

13 leles or by selfishly distorting the laws of Mendelian inheritance.

14 l study, for rare monophyletic diseases with Mendelian inheritance.

15 HindIII polymorphic site is consistent with Mendelian inheritance.

16 cted through apparent incompatibilities with Mendelian inheritance.

17 types in the data that are inconsistent with Mendelian inheritance.

18 regions (at 4637 gene loci) passed tests for Mendelian inheritance.

19 genes that display significant departure of Mendelian inheritance.

20 ions by propagating drive alleles with super-Mendelian inheritance.

21 smissible neurodegenerative diseases and non-Mendelian inheritance.

22 ually be regarded as necessary for classical Mendelian inheritance.

23 h a single-copy, classical DQB locus showing Mendelian inheritance.

24 erns consistent with a complex trait and non-Mendelian inheritance.

25 ded pitfalls that could have resulted in non-Mendelian inheritance.

26 ias their transmission into gametes, defying Mendelian inheritance.

27 ed the inbred ancestry of infections and non-Mendelian inheritance.

28 cKL knockdown mice than would be expected by mendelian inheritance.

29 n in spontaneous revertants accounts for non-Mendelian inheritance.

30 male sterility, adaptive evolution, and non-Mendelian inheritance.

31 ed feature of meiosis that is fundamental to Mendelian inheritance.

32 idual and found nearly 100% consistency with Mendelian inheritance.

33 tegrates statistics that reflect the laws of Mendelian inheritance.

34 nating panoply of episodic disorders exhibit Mendelian inheritance.

35 tion that local ancestry in families follows Mendelian inheritance.

36 through the population pedigree according to Mendelian inheritance.

37 ransmission above the 50% value predicted by Mendelian inheritance.

38 s was significantly lower than expected from Mendelian inheritance ABCA3 probably plays roles in deve

39 inheritance was supported more strongly than Mendelian inheritance alone.

40 nknown, but there is increasing evidence for Mendelian inheritance and a neurobiological mechanism.

41 The suppressor mutation(s) displayed Mendelian inheritance and segregated independently from

42 egrated mechanism of mixed Mendelian and non-Mendelian inheritance and suggests the possibility that

43 likelihood of genetic heterogeneity and non-Mendelian inheritance and the necessity for linkage meth

44 he mutants characterized conformed to simple Mendelian inheritance, and at least seven complementatio

45 Significant deviations from Mendelian inheritance are observed for each of the three

46 The nature of mendelian inheritance assumes that all tissues in which

47 We present MATE-CLEVER (Mendelian-inheritance-AtTEntive CLique-Enumerating Varia

48 netic linkage studies have assumed classical mendelian inheritance attributable to a single major gen

49 the broad evolutionary consequences that non-Mendelian inheritance brings.

50 les ranging from 0.5 to 20 kb, maintained by mendelian inheritance but also subject to germline insta

51 The authors assume Mendelian inheritance, but Hardy-Weinberg equilibrium is

52 s using high-throughput validation with both Mendelian inheritance checking and SNP array data, which

53 by TrioMix facilitates tracing the origin of Mendelian inheritance deviations.

54 Single-gene disorders with "simple" Mendelian inheritance do not always imply that there wil

55 In classical Mendelian inheritance, each parent donates a set of chro

56 A number of conditions with Mendelian inheritance (eg, sickle cell disease) predispo

57 bovine-trained checkpoint (28) decreased the Mendelian inheritance error (MIE) rate by a factor of tw

58 hed after examining the relationship between Mendelian inheritance error rate and coverage, quality s

59 lizing or lethal combination, deviation from Mendelian inheritance expectations would be observed for

60 induce signals of TRD (i.e., deviation from Mendelian inheritance expectations).

61 It is the sole human model with recognizably Mendelian inheritance for a variety of multisystem infla

62 The Fga270 mutation was compatible with Mendelian inheritance for offspring of heterozygous cros

63 ay occur sporadically or as a consequence of Mendelian inheritance, for example in cystic fibrosis, p

64 umerary and dispensable chromosomes with non-Mendelian inheritance found in many plant and animal spe

65 sion and further increase the rate of "super-mendelian" inheritance from both male and female mice.

66 Though SB shows non-Mendelian inheritance, genetic factors contribute to an

67 eate a more comprehensive truth set, we used Mendelian inheritance in a large pedigree (CEPH-1463) to

68 Mendelian Inheritance in Man (OMIM), Online Mendelian Inheritance in Animals (OMIA), the Molecular M

69 Mendelian Inheritance in Man (OMIM), Online Mendelian Inheritance in Animals (OMIA), the Molecular M

70 Gene Expression Omnibus (GEO), Probe, Online Mendelian Inheritance in Animals (OMIA), the Molecular M

71 Mendelian Inheritance in Man (OMIM), Online Mendelian Inheritance in Animals (OMIA), the Molecular M

72 more disease alleles reported in the Online Mendelian Inheritance in Animals (OMIA).

73 Building upon OMIA (Online Mendelian Inheritance in Animals), we introduced a curat

74 Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling

75 Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling

76 Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling

77 previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683).

78 multicentric carpotarsal osteolysis (Online Mendelian Inheritance in Man #166300), a pathology cause

79 inal motor neuronopathy (LOSMoN/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal domi

80 Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no.

81 EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused

82 pe III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the

83 mia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autoso

84 th dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM) accession no. 608800

85 n human dentinogenesis imperfecta II (Online Mendelian Inheritance in Man (OMIM) accession number 125

86 ts of genes with causal evidence from online Mendelian inheritance in man (OMIM) and knockout (KO) mi

87 sSNPs were studied: disease annotated Online Mendelian Inheritance in Man (OMIM) and nonannotated (no

88 between the disease genes compiled in Online Mendelian Inheritance in Man (OMIM) and the complete Dro

89 natomy Project (CGAP) pages, SAGEmap, Online Mendelian Inheritance in Man (OMIM) and the Molecular Mo

90 ith leave-one-out cross-validation on Online Mendelian Inheritance in Man (OMIM) data and an independ

91 ith at least one mutant allele in the Online Mendelian Inheritance in Man (OMIM) database against the

92 e- associated nsSNPs derived from the Online Mendelian Inheritance in Man (OMIM) database and other n

93 Detailed analyses of >1000 Online Mendelian Inheritance in Man (OMIM) database entries and

94 -the-art methods on diseases from the Online Mendelian Inheritance in Man (OMIM) database shows that

95 pped a set of nsSNPs derived from the online mendelian inheritance in man (OMIM) database to the stru

96 le through Johns Hopkins University's Online Mendelian Inheritance in Man (OMIM) database, we set out

97 enome marker correlation data and the Online Mendelian Inheritance in Man (OMIM) database.

98 ne-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database.

99 ociated with human pathologies in the Online Mendelian Inheritance in Man (OMIM) database.

100 itization algorithms on diseases from Online Mendelian Inheritance in Man (OMIM) database.

101 osome and a disorder network from the Online Mendelian Inheritance in Man (OMIM) database.

102 tly fewer nonsynonymous singletons in Online Mendelian Inheritance in Man (OMIM) disease genes compar

103 ssifying de novo missense variants in Online Mendelian Inheritance in Man (OMIM) genes of up to 0.86

104 ed with homology searches against the Online Mendelian Inheritance in Man (OMIM) human genetics datab

105 Online Mendelian Inheritance in Man (OMIM) is a comprehensive,

106 Online Mendelian Inheritance in Man (OMIM) is a manually curate

107 e Ontology and disease names from the Online Mendelian Inheritance in Man (OMIM) resource.

108 y the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associa

109 McKusick's Online Mendelian Inheritance in Man (OMIM), a knowledgebase of

110 nd both the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM), Baltimore, USA.

111 641 single amino acid mutations from Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation

112 Omnibus (GEO), Entrez Probe, GENSAT, Online Mendelian Inheritance in Man (OMIM), Online Mendelian In

113 Omnibus (GEO), Entrez Probe, GENSAT, Online Mendelian Inheritance in Man (OMIM), Online Mendelian In

114 Omnibus (GEO), Entrez Probe, GENSAT, Online Mendelian Inheritance in Man (OMIM), Online Mendelian In

115 ta Bank (PDB), Swiss-Prot, as well as Online Mendelian Inheritance in Man (OMIM), the latter contains

116 GEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Model

117 GEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Model

118 GEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Model

119 GEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Model

120 Phenotype Ontology (HPO), ClinVar, or Online Mendelian Inheritance in Man (OMIM), with which GenIA in

121 ment, with the genetic loci linked to Online Mendelian Inheritance in Man (OMIM).

122 ment, with the genetic loci linked to Online Mendelian Inheritance in Man (OMIM).

123 hin the promoter region of the ADRB2 (Online Mendelian Inheritance in Man 109690) gene with PTSD symp

124 Prostate cancer ([Mendelian Inheritance in Man 176807]) has a complex etio

125 lymphangiectasia-lymphedema syndrome (Online Mendelian Inheritance in Man 235510) is a rare autosomal

126 disposition to develop neuroblastoma (Online Mendelian Inheritance in Man 256700), a pediatric cancer

127 ongenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rar

128 The AR ([Mendelian Inheritance in Man 313700]) is a structurally

129 rom Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystroph

130 FcgammaRIIb (CD32B, Online Mendelian Inheritance in Man 604590), an IgG FcR with a

131 Greig cephalopolysyndactyly syndrome (GCPS, Mendelian Inheritance in Man [175700]) and congenital ma

132 ombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314

133 nson-Gilford progeria syndrome (HGPS; Online Mendelian Inheritance in Man accession no. 176670) is a

134 publicly available databases such as Online Mendelian Inheritance in Man and Mouse Genome Informatic

135 ns, we created a hand-curated version of the Mendelian Inheritance in Man database (OMIM).

136 ed relationship networks based on the Online Mendelian Inheritance in Man database and our identified

137 mendelian contributions came from the Online Mendelian Inheritance in Man database and our perspectiv

138 ive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number 208230).

139 uding 177 that are represented on the Online Mendelian Inheritance in Man database of disease-related

140 Using the Online Mendelian Inheritance in Man database, we identified 731

141 f the genes identified feature in the Online Mendelian Inheritance in Man database.

142 fferent human diseases taken from the Online Mendelian Inheritance in Man database.

143 ficant portion of the diseases in the Online Mendelian Inheritance in Man database.

144 ed data from the MEDLINE, PubMed, and Online Mendelian Inheritance in Man databases, as well as from

145 four state-of-the-art methods on the Online Mendelian Inheritance in Man dataset to prioritize candi

146 For over 50 years Mendelian Inheritance in Man has chronicled the collecti

147 GEISHA interface information with the Online Mendelian Inheritance in Man human disease gene database

148 UMLS and clinical phenotypes from the Online Mendelian Inheritance in Man knowledgebase.

149 Primary hyperoxaluria 1 (PH1; Online Mendelian Inheritance in Man no.

150 he systemic lupus erythematosus (SLE; Online Mendelian Inheritance in Man no. 152700) phenotype.

151 syndrome, French-Canadian type (LSFC, Online Mendelian Inheritance in Man no. 220111), a human cytoch

152 nhibitory motif-containing receptor for IgG (Mendelian Inheritance in Man no. 604590), plays an impor

153 centromere instability and facial anomalies; Mendelian Inheritance in Man number 242860) is character

154 t with the Glut1 deficiency syndrome (Online Mendelian Inheritance in Man number 606777) carrying a h

155 divided mutations listed in the OMIM (Online Mendelian Inheritance in Man) database into PD and CPD d

156 ticles, GWAS meta-analyses, and OMIM (Online Mendelian Inheritance in Man).

157 ith data from UniProt, Gene Ontology, Online Mendelian Inheritance in Man, HomoloGene, Kyoto Encyclop

158 notypes, was originally published as a book, Mendelian Inheritance in Man, in 1966.

159 rted in DURS2-linked Duane syndrome (On-line Mendelian Inheritance in Man, OMIM 604356) and CFEOM1 (O

160 Online Mendelian Inheritance in Man, OMIM((R)), is a comprehens

161 ession Omnibus, Entrez Probe, GENSAT, Online Mendelian Inheritance in Man, Online Mendelian Inheritan

162 , Database of Genotype and Phenotype, Online Mendelian Inheritance in Man, Online Mendelian Inheritan

163 ession Omnibus, Entrez Probe, GENSAT, Online Mendelian Inheritance in Man, Online Mendelian Inheritan

164 Online Mendelian Inheritance in Man, the Functional Annotation

165 ources such as Entrez, GeneCards and On-Line Mendelian Inheritance in Man.

166 Juvenile polyposis syndrome (JPS; Online Mendelian Inheritance in Man2 174900) is a rare Mendelia

167 common polymorphism in the MAO A gene (MAOA, Mendelian Inheritance in Men database number 309850, ref

168 se findings advance the understanding of non-Mendelian inheritance in plants.

169 Lolle et al. report a pattern of non-mendelian inheritance in the hothead (hth) mutant of Ara

170 eurodegenerative diseases in mammals and non-Mendelian inheritance in yeast.

171 classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes

172 nonsyndromic birth defects often exhibit non-Mendelian inheritance, incomplete penetrance or variable

173 geny obtained was 70% less than predicted by Mendelian inheritance, indicating partial haploid insuff

174 e effect on LDL particle size and codominant Mendelian inheritance involved in determination of apoB

175 Similar non-Mendelian inheritance is associated with other mutations

176 ldane, and Wright established a century ago, Mendelian inheritance is exactly what is needed for natu

177 A fundamental principle of Mendelian inheritance is random segregation of alleles t

178 has a strong genetic basis, although simple Mendelian inheritance is rarely observed.

179 The rule of Mendelian inheritance is remarkably robust, but deviatio

180 ess, canonically thought to be restricted to Mendelian inheritance, is enhanced in female placental m

181 a containerized software tool that uses both Mendelian inheritance logic and SHAPEIT4 to phase trios

182 Mendelian inheritance logic can be used to accurately ph

183 to the number of positions that SHAPEIT4 or Mendelian inheritance logic can phase when either is use

184 rs of a trio are heterozygous at a position, Mendelian inheritance logic cannot be used to phase.

185 Input trio data are first phased using Mendelian inheritance logic.

186 We map two distinct Mendelian inheritance mechanisms to ancient (>37 million

187 The non-Mendelian inheritance of [ETA+] is reminiscent of the ye

188 Non-Mendelian inheritance of a selectable marker (neo), used

189 Gene drive systems that enable super-Mendelian inheritance of a transgene have the potential

190 o APOE epsilon4 alleles and families showing mendelian inheritance of AD exist in whom there are no m

191 idence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other

192 It is best known from exceptional non-Mendelian inheritance of conspicuous phenotypes in maize

193 The reconciliation between Mendelian inheritance of discrete traits and the genetic

194 mily members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density l

195 itance of a familial microbiome, rather than Mendelian inheritance of genetic abnormalities.

196 The apparently different modes of Mendelian inheritance of HGF suggest genetic heterogenei

197 Genetic studies in families with mendelian inheritance of Parkinson's disease (PD) have r

198 o their transcribed allele, and demonstrated Mendelian inheritance of RNA molecules.

199 lies did not differ from that expected given Mendelian inheritance of such an allele.

200 localisation of this process leads to super-Mendelian inheritance of the drive and the rapid spread

201 and demonstrate its ability to promote super-Mendelian inheritance of the separate transgenes.

202 Evidence against the Mendelian inheritance of the trait is presented.

203 nuclease in the germline that promotes super-Mendelian inheritance of the transgene by homology-direc

204 We induced super-Mendelian inheritance of the X-chromosome-shredding I-Pp

205 hough experimental crosses have revealed the Mendelian inheritance of this trait, its genetic basis r

206 e a growing number of reports indicating non-Mendelian inheritance of transgene expression in monocot

207 veloped in several organisms result in super-Mendelian inheritance of transgenic insertions.

208 and our results are consistent with a simple Mendelian inheritance of two differing alleles in which

209 trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband.

210 function, such as identifying variants with Mendelian inheritance or identifying shared chromosomal

211 -effect resistance genes that follow classic Mendelian inheritance, our study suggests that plant def

212 approximately 8% of our cohort, suggesting a Mendelian inheritance pattern of disease.

213 eer "anti-prion drives" that reverse the non-Mendelian inheritance pattern of prions and eliminate th

214 ant genes; but, for diseases lacking a clear Mendelian inheritance pattern or caused by several genes

215 A simple Mendelian inheritance pattern was found for all four loc

216 However, a non-Mendelian inheritance pattern was shown among male proge

217 Defects in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance o

218 e primate-specific and less likely to have a Mendelian inheritance pattern, and they tend to cluster

219 Some genes follow a Mendelian inheritance pattern, but others are risk facto

220 can produce viable animals exhibiting a non-Mendelian inheritance pattern.

221 In general, common diseases do not follow a Mendelian inheritance pattern.

222 a phenotype segregation ratio showing a non-Mendelian inheritance pattern.

223 ance follows a DNA sequence-independent, non-Mendelian inheritance pattern.

224 ed recurrently, explaining the seemingly non-mendelian inheritance pattern.

225 mice, consistent with an autosomal recessive Mendelian inheritance pattern.

226 We will examine how Mendelian inheritance patterns contribute to these disor

227 Single gene disorders with Mendelian inheritance patterns have contributed greatly

228 licates from the same individual, by tracing Mendelian inheritance patterns in STR alleles in whole-g

229 ers and their effects and then discusses non-Mendelian inheritance patterns involving modifier genes.

230 lls from CLAMMS and four other algorithms to Mendelian inheritance patterns on a pedigree; we compare

231 ular disease genes identified through either Mendelian inheritance patterns or genome-wide associatio

232 tect genomic abnormalities that deviate from Mendelian inheritance patterns, such as uniparental diso

233 erse clinical phenotypes that typically show Mendelian inheritance patterns.

234 ocus on complex diseases that do not exhibit Mendelian inheritance patterns.

235 lial yet rarely (if ever) exhibits classical Mendelian inheritance patterns.

236 n 79% of the informative loci exhibiting non-Mendelian inheritance patterns.

237 Meiotic drive is a non-Mendelian inheritance phenomenon in which certain selfis

238 l individuals, yielding a trio call set with Mendelian-inheritance properties highly consistent with

239 drives are genetic elements that manipulate Mendelian inheritance ratios in their favour.

240 targeted genome sequence, resulting in near-Mendelian inheritance ratios of the transgene.

241 yBP-C(-/-) mice were born in accordance with Mendelian inheritance ratios, survived into adulthood, a

242 with HapMap reference genotypes, informative Mendelian inheritance relationship in families, and cons

243 ernative explanation for the genome wide non-mendelian inheritance reported by Lolle et al.

244 available for inferring the true phase from Mendelian inheritance rules, the accuracy of statistical

245 While most markers exhibited Mendelian inheritance, segregation distortion was observ

246 observed changes are unlikely to derive from Mendelian inheritance, since the investigated offspring

247 In tandem, genetics evolved from Mendelian inheritance (single gene mutations) to include

248 both dollars and animal lives compared with Mendelian inheritance strategies.

249 Our findings demonstrate the utility of non-Mendelian inheritance systems for understanding fundamen

250 and high-frequency (>80%) production of non-Mendelian inheritance, the facile and simultaneous homoz

251 lly do provide family histories that suggest Mendelian inheritance, the vast majority of the time the

252 Specifically, we map two traits with mendelian inheritance: the major white spotting (S) locu

253 We further illustrate the use of Mendelian inheritance to infer SNP allele compositions i

254 Mendelian inheritance transfers genes vertically within

255 Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset d

256 Among genes with non-Mendelian inheritance, variants in APOL1 have the larges

257 Mendelian inheritance via gametocyte integration results

258 uence differentially affects RA risk through Mendelian inheritance vs. microchimeric cell acquisition

259 Timed matings established that Mendelian inheritance was followed for up to 18.5 days p

260 In addition, non-Mendelian inheritance was found among progeny of A1cf an

261 for diabetic subjects only, the evidence for Mendelian inheritance was improved, although a single ma

262 Non-Mendelian inheritance was rejected in both data sets.

263 fect, random environmental transmission, and Mendelian inheritance were rejected.

264 opagation of a genetic element that bypasses Mendelian inheritance which can be used to bias sex dete

265 Homing endonuclease genes show super-Mendelian inheritance, which allows them to spread in po

266 reduce CNV calls that are incompatible with Mendelian inheritance while still allowing de-novo CNVs.

267 unexpected in the nontraditional aspects of Mendelian inheritance with the discovery of trinucleotid

268 d for EGFR T790M, demonstrating a pattern of Mendelian inheritance with variable lung cancer penetran

269 hus, C6 deficiency appears to follow classic mendelian inheritance, with all three possible genotypes