ライフサイエンスコーパス: Mendelian inheritance

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

2 bility and 99.995% genotypes consistent with mendelian inheritance.

3 and transmitted through meiosis following a Mendelian inheritance.

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

5 were transmitted through meiosis following a Mendelian inheritance.

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

7 for resistancesusceptibility as expected for Mendelian inheritance.

8 mice observed was lower than expected under mendelian inheritance.

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

10 HindIII polymorphic site is consistent with Mendelian inheritance.

11 cted through apparent incompatibilities with Mendelian inheritance.

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

13 ias their transmission into gametes, defying Mendelian inheritance.

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

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

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

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

18 tegrates statistics that reflect the laws of Mendelian inheritance.

19 nating panoply of episodic disorders exhibit Mendelian inheritance.

20 tion that local ancestry in families follows Mendelian inheritance.

21 through the population pedigree according to Mendelian inheritance.

22 The first level simply assumes Mendelian inheritance.

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

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

25 inheritance was supported more strongly than Mendelian inheritance alone.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

80 641 single amino acid mutations from Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

123 ctor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

167 Single gene disorders with Mendelian inheritance patterns have contributed greatly

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

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

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

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

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

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

174 erse clinical phenotypes that typically show Mendelian inheritance patterns.

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

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

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

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

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

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

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

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

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

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

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

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

187 Mendelian inheritance transfers genes vertically within

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

189 Mendelian inheritance via gametocyte integration results

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

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

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

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

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

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

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

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

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