ライフサイエンスコーパス: inheritance pattern

1 ermont II but fails to fully account for the inheritance pattern.

2 large AF family with an autosomal recessive inheritance pattern.

3 ects, consistent with an autosomal recessive inheritance pattern.

4 ich MS segregates with an autosomal dominant inheritance pattern.

5 l, common diseases do not follow a Mendelian inheritance pattern.

6 ited in Alport GBM, regardless of species or inheritance pattern.

7 idermolysis bullosa with autosomal recessive inheritance pattern.

8 me (CSS) phenotype and an autosomal dominant inheritance pattern.

9 ce viable animals exhibiting a non-Mendelian inheritance pattern.

10 pe segregation ratio showing a non-Mendelian inheritance pattern.

11 ses are commonly associated with a polygenic inheritance pattern.

12 d to aid the assessment of pathogenicity and inheritance pattern.

13 ticipants, supporting an autosomal recessive inheritance pattern.

14 ws a DNA sequence-independent, non-Mendelian inheritance pattern.

15 of the families were consanguineous with AR inheritance pattern.

16 iant classifier tools on IRD genes, split by inheritance pattern.

17 correlate this with clinical assessment and inheritance pattern.

18 ne genodermatosis with an X-linked, dominant inheritance pattern.

19 ntly, explaining the seemingly non-mendelian inheritance pattern.

20 GF trait observed to segregate in a dominant inheritance pattern.

21 stemic lupus erythematosus, show a polygenic inheritance pattern.

22 ets, decreased ATP secretion, and a dominant inheritance pattern.

23 n DDX3X, suggestive of an X-linked recessive inheritance pattern.

24 istent with an autosomal recessive Mendelian inheritance pattern.

25 tudies, which revealed the complexity of the inheritance pattern.

26 nerated and genotyped to determine transgene inheritance pattern.

27 5X) causes juvenile cataract with a dominant inheritance pattern.

28 with many large pedigrees showing autosomal inheritance patterns.

29 cal phenotypes that typically show Mendelian inheritance patterns.

30 ir reaction mechanism and can explain [PSI+] inheritance patterns.

31 Special consideration is given to unusual inheritance patterns.

32 with most expression levels showing complex inheritance patterns.

33 ported to cause cataracts with semi-dominant inheritance patterns.

34 mplex diseases that do not exhibit Mendelian inheritance patterns.

35 ason for varying severity and differences in inheritance patterns.

36 rrelation and segregation analyses to assess inheritance patterns.

37 possible deviations from neutrality in their inheritance patterns.

38 ble, with recognised monogenic and polygenic inheritance patterns.

39 mic conflict that arise due to divergence in inheritance patterns.

40 nt genes need to be considered for recessive inheritance patterns.

41 tochondrial genomes, exhibiting all possible inheritance patterns.

42 l human genetic diseases, as well as diverse inheritance patterns.

43 , and linkage analyses to establish their co-inheritance patterns.

44 e-wide association studies and track disease inheritance patterns.

45 le combinations associated with phylogenetic inheritance patterns.

46 nkey models of human diseases, regardless of inheritance patterns.

47 digrees with dominant, recessive and de novo inheritance patterns.

48 indicated by their tissue distributions and inheritance patterns.

49 arely (if ever) exhibits classical Mendelian inheritance patterns.

50 he informative loci exhibiting non-Mendelian inheritance patterns.

51 o allele frequency and effect on protein and inheritance pattern, 321 genetic variants (representing

52 Of the 53 cases with this inheritance pattern, 51 carried a submicroscopic deletio

53 tree inference methods and evaluating common inheritance patterns across patients.

54 pedigree, and invalidate analyses of marker inheritance patterns across the dataset.

55 s by physical mapping and by comparing their inheritance patterns against those of restriction fragme

56 lies, emphysema showed an autosomal dominant inheritance pattern, along with pulmonary fibrosis and o

57 Inheritance pattern and causative mutation; retinal func

58 fine the assessment of risk of an associated inheritance pattern and consequently the clinical and ge

59 ondition with an entirely autosomal dominant inheritance pattern and emphasize the variability of pen

60 tance, with mutations in many genes for each inheritance pattern and numerous, distinct, disease-caus

61 disorder that exhibits an autosomal dominant inheritance pattern and presents severe bleeding after t

62 tina creates a miniature swine model with an inheritance pattern and retinal function that mimics adR

63 X-linked (on the X chromosome), the disease inheritance pattern and risk of recurrence for the two g

64 Genes were prioritized based on the inheritance pattern and total number of pathogenic loss-

65 Cultural practices influence the inheritance patterns and a Caucasian founder is postulat

66 vergence times and use F1 hybrids to examine inheritance patterns and disentangle cis- and trans-regu

67 clear trio that are concordant with expected inheritance patterns and phase a set of structural varia

68 The purpose of this review is to discuss the inheritance patterns and recent genetic advances in the

69 Analysis of the inheritance patterns and resistance spectra of transgeni

70 pmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spec

71 thism has been attributed to various genetic inheritance patterns and some environmental factors.

72 The molecular bases for these differences in inheritance patterns and the mechanism for cataractogene

73 Complex human diseases do not have a clear inheritance pattern, and it is expected that risk involv

74 al interpretation of their pathogenicity and inheritance pattern, and serve as reference for 34 previ

75 specific and less likely to have a Mendelian inheritance pattern, and they tend to cluster in some bi

76 disease duration, with an autosomal dominant inheritance pattern, and with tau-rich neurofibrillary p

77 e complex queries based on sample genotypes, inheritance patterns, and both pre-installed and custom

78 f type 2 diabetes are polygenic with complex inheritance patterns, and penetrance is strongly influen

79 d identification of associated health risks, inheritance patterns, and possible current and future tr

80 em genes such as NIN and NGF, showed complex inheritance patterns, and were depleted in unaffected si

81 These symptoms and inheritance pattern are very similar to those of inconti

82 Cardiomyopathy inheritance patterns are fairly well understood, but how

83 Improved insight into the inheritance patterns, arrhythmic risks, and molecular me

84 Twenty years later, we reinterpreted the inheritance pattern as maternal.

85 ic disorders showing anticipation follow two inheritance patterns as a function of length.

86 Here we review hearing loss inheritance patterns as they were discovered in differen

87 rats that reflect its autosomal and X-linked inheritance patterns as well as different mutation types

88 Consistent with a recessive inheritance pattern, as suggested by pedigrees, variants

89 Predicting prognosis and inheritance pattern, as well as treatment plans will in

90 tails of H3 and H3.3 are critical for their inheritance patterns, as well as GSC maintenance and pro

91 was TBD genotypes, with subgroups defined by inheritance pattern (autosomal-dominant [AD-non-TINF2] v

92 ovide an initial estimate of the anticipated inheritance pattern based on the location of a novel var

93 ure of human society: descent determines the inheritance pattern between generations, whereas residen

94 ased not only upon clinical features and the inheritance pattern but also on molecular genetic analys

95 is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes

96 Some genes follow a Mendelian inheritance pattern, but others are risk factors for app

97 However, because the maternal inheritance pattern can be masked and the systemic disea

98 The variation in inheritance patterns can be partly due to the use of dif

99 signed to account for the subclonal mutation inheritance patterns characteristic of tumor evolutionar

100 , > or =1-mm STE) with an autosomal dominant inheritance pattern characterized by incomplete penetran

101 gregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds scor

102 lities within other organisms and its unique inheritance pattern, commonly maternal, we conducted a g

103 s based on importance sampling of unobserved inheritance patterns conditional on the observed genotyp

104 Patients were grouped by inheritance pattern, considering AD-nonTINF2, AR/XLR, an

105 Survey data revealed tusk-inheritance patterns consistent with an X chromosome-lin

106 We will examine how Mendelian inheritance patterns contribute to these disorders and d

107 with reassuring results for mild AS, though inheritance patterns could be considered in counseling n

108 with establishing predetermined spindle MTOC inheritance patterns during stem cell division have been

109 cells is encoded in the nuclear genome, with inheritance patterns following classic Mendelian segrega

110 tudies showed that a non-Mendelian polygenic inheritance pattern for autoimmune disease was most cons

111 The inheritance pattern for nob was defined by breeding nob

112 Inheritance patterns for Alternaria-negative asthma reve

113 g process on 985 genes with well-established inheritance patterns for Mendelian conditions, and repea

114 otype (M), organ(s) involvement (O), genetic inheritance pattern (G), etiological annotation (E) incl

115 , organ involvement (O), genetic or familial inheritance pattern (G), etiological information (E), an

116 Variation exists between the inheritance patterns, genes responsible, course of disea

117 To date, only an autosomal-recessive inheritance pattern has been described in individuals wi

118 Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic va

119 The dominant inheritance pattern has been postulated to reflect neuro

120 The same inheritance pattern has been proposed for Rett syndrome,

121 dominant, autosomal recessive, and X-linked inheritance patterns have been described.

122 M127000) and autosomal recessive (MIM244460) inheritance patterns have been described.

123 h autosomal-recessive and autosomal-dominant inheritance patterns have been described.

124 Single gene disorders with Mendelian inheritance patterns have contributed greatly to the ide

125 This unusual inheritance pattern holds even when the Ty1 primer bindi

126 ther observed that circles can have flexible inheritance patterns: [HXT6/7circle] normally segregates

127 l dominant transmission is the usual type of inheritance pattern identified.

128 Examination of nuclease-protease inheritance patterns identified caspase-nuclease (canu)

129 FCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families.

130 identify potential causes for this maternal inheritance pattern in adults are warranted.

131 monly recognized, with an autosomal dominant inheritance pattern in approximately 10% of all cases.

132 The inheritance pattern in familial desmin myopathy is autos

133 ree genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects

134 The inheritance pattern in this family suggests the presence

135 anges in both copies of the mutant gene, and inheritance patterns in all families are consistent with

136 of median forebrain development and X-linked inheritance patterns in holoprosencephaly.

137 nce constructs allow direct visualization of inheritance patterns in intact tetrads, eliminating the

138 Inheritance patterns in probands' relatives were analyse

139 om the same individual, by tracing Mendelian inheritance patterns in STR alleles in whole-genome sequ

140 rns of genes with monoallelic and bi-allelic inheritance patterns in the developing human cortex.

141 Ty1 plus strand strong-stop DNA transfer and inheritance patterns in the primer binding site.

142 Inheritance patterns in twins and multiplex families led

143 cal presentations can affect all organs, and inheritance patterns include autosomal dominant (AD), au

144 e mutation in autosomal dominant and de novo inheritance patterns, including a four-generation family

145 affects CQ response in the progeny; however, inheritance patterns indicate that an allele-specific in

146 The inheritance pattern indicated that this locus influences

147 tities, classified based on their pathology, inheritance pattern, involvement of the kidney and clini

148 eir effects and then discusses non-Mendelian inheritance patterns involving modifier genes.

149 The inheritance pattern is apparently autosomally dominant w

150 The inheritance pattern is controversial, and the molecular

151 ecessive alleles, but an autosomal recessive inheritance pattern is much more common.

152 A similar inheritance pattern is seen in human pedigrees transmitt

153 ly, the distantly related Ty3 element has an inheritance pattern like Ty1, indicating evolutionary co

154 romere-proximal interval and has a sterility inheritance pattern modulated by TaMs5-D but not TaMs5-B

155 r(s) (n = 6), alteration of presumed disease inheritance pattern (n = 7), changing of prognosis (n =

156 The inheritance pattern observed for these traits supported

157 ing mtDNA mutation, explaining the different inheritance patterns observed in human pedigrees transmi

158 Rarely, an autosomal dominant inheritance pattern occurs.

159 nd also suggest a mechanism for the dominant inheritance pattern of a hereditary disease resulting fr

160 over 50 years ago with an autosomal dominant inheritance pattern of chronic pancreatitis, diabetes an

161 ely 8% of our cohort, suggesting a Mendelian inheritance pattern of disease.

162 ot require prior knowledge on the underlying inheritance pattern of each SNP.

163 gh the small size, limited gene content, and inheritance pattern of each suggests that the phenotypic

164 e results show how the nonchromosomal random inheritance pattern of ecDNA contributes to poor outcome

165 The dominant inheritance pattern of FAD indicates that it may be attr

166 Consistent with the female-specific inheritance pattern of FDH, Porcn hemizygous male embryo

167 We sought to examine the degree of maternal inheritance pattern of functional disorders and the prev

168 as a significantly higher degree of maternal inheritance pattern of functional disorders than control

169 and explains several features of the complex inheritance pattern of HSCR.

170 The genetic basis and inheritance pattern of isolated congenital keratoglobus

171 died two families with an autosomal dominant inheritance pattern of keloids.

172 We noted an unexpected inheritance pattern of lesions in several strains of gen

173 ith dominant functional features or dominant inheritance pattern of myotonia congenita.

174 However, interpreting the pathogenicity and inheritance pattern of novel variants is notoriously dif

175 In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evid

176 stablishing a digenic and autosomal dominant inheritance pattern of PRAAS.

177 prion drives" that reverse the non-Mendelian inheritance pattern of prions and eliminate them from ye

178 ollectively, these results suggest a complex inheritance pattern of psoriasiform dermatitis in this m

179 rentiation, which thus explains the dominant inheritance pattern of PTS despite the presence of one n

180 The inheritance pattern of rd6 is autosomal recessive.

181 ption of a family with an autosomal dominant inheritance pattern of retinal dystrophy associated with

182 tes by a complete genetic dissection why the inheritance pattern of S-HSCR is nonmendelian.

183 o those from the spleens of the parents, the inheritance pattern of some bands was found to be unusua

184 We assessed the possible presence and inheritance pattern of subclinical intestinal inflammati

185 udies indicate a likely homozygous recessive inheritance pattern of the defect.

186 absorption assays, and familial analyses for inheritance pattern of the gene(s) potentially responsib

187 To establish the inheritance pattern of the slow-growing tumor phenotype,

188 x-determining region (SDR), and to trace the inheritance pattern of the transgene in relation to sex.

189 The unique inheritance pattern of the X chromosome exposes it to na

190 s, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal C

191 ected and 12 unaffected individuals, and the inheritance pattern of this family tends to be autosomal

192 ariance components analyses suggest that the inheritance pattern of this inflammation is affected by

193 families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autoz

194 erpretation of the clinical significance and inheritance pattern of variants can be challenging.

195 n in a family with the clinical features and inheritance pattern of X-linked amelogenesis imperfecta

196 iochemical mechanisms of regulation from the inheritance patterns of altered chromatin states.

197 n amyloid fibrils, a better understanding of inheritance patterns of amyloid diseases (amyloidoses) c

198 from different target sites and alternative inheritance patterns of CRISPR components.

199 Inheritance patterns of F(2) progeny were non-Gaussian a

200 breeds, by RNA-Seq in order to determine the inheritance patterns of gene expression.

201 arcoma parent-proband trios was analyzed for inheritance patterns of identified pathogenic variants.

202 consequences of induced DNA damages and the inheritance patterns of induced mutations.

203 has been reported in families with dominant inheritance patterns of Parkinson's disease, suggesting

204 Here, we define the inheritance patterns of susceptibility to KA-induced neu

205 ophila melanogaster population and study the inheritance patterns of TEs during hybrid dysgenesis.

206 study is the first to provide an overview of inheritance patterns of the transcriptome in layers and

207 art disease has been hampered by the complex inheritance patterns of these disorders.

208 Genetic maps characterizing the inheritance patterns of traits and markers have been dev

209 .8 years) and their parents to determine the inheritance patterns of ultrarare, nonsynonymous variant

210 and benign (BS4) criteria for evaluating the inheritance patterns of variants, but details of how to

211 LAMMS and four other algorithms to Mendelian inheritance patterns on a pedigree; we compare calls fro

212 It can apply a different inheritance pattern or a de novo mutations discovery mod

213 but, for diseases lacking a clear Mendelian inheritance pattern or caused by several genes of low to

214 se genes identified through either Mendelian inheritance patterns or genome-wide association studies.

215 with the transgene and demonstrated a stable inheritance pattern over four subsequent generations tes

216 found to be characterized by a nonmendelian inheritance pattern, referred to as polar overdominance,

217 However, what underlies these distinct inheritance patterns remains unknown.

218 Inheritance patterns showed that two of the wild oat iso

219 ntifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia typ

220 ic abnormalities that deviate from Mendelian inheritance patterns, such as uniparental disomy (UPD) a

221 function and underscoring a highly polygenic inheritance pattern that may be another important contri

222 n the entire gene and represent the numerous inheritance patterns that are associated with parkin-lin

223 procal F1 hybrids permitted investigation of inheritance patterns that govern transcriptomic differen

224 d pedigree genotypes to reduce the number of inheritance patterns that need to be considered.

225 of genes that cause them, and the variety of inheritance patterns that the affected families display.

226 to identify modifier phenotypes with complex inheritance patterns that would be unidentifiable in hum

227 aneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rat

228 These settings involve different inheritance patterns, time scales, chromatin structures,

229 e data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in

230 r-bearing animals and compared their allelic inheritance patterns to non-tumor-bearing siblings in a

231 -induced epigenetic-associated mechanisms in inheritance patterns to promote germination and early gr

232 roportional-odds logistic model that relates inheritance patterns to the distribution of the ordinal

233 roportional-odds logistic model that relates inheritance patterns to the distribution of the ordinal

234 evidence, 2 genes were curated for multiple inheritance patterns (TRIM63, disputed for autosomal dom

235 blistering disorders have been classified by inheritance pattern, ultrastructural morphology and leve

236 tic signal of genomic regions with different inheritance patterns using genome skimming and ddRAD-seq

237 By aggregating all possible inheritance patterns via an explicit representation of t

238 A further feature of the inheritance pattern was examined when a unique point mut

239 A simple Mendelian inheritance pattern was found for all four loci, which s

240 However, a non-Mendelian inheritance pattern was shown among male progeny of hete

241 ciated ocular and systemic abnormalities and inheritance patterns were assessed.

242 The observed inheritance patterns were predominantly dominant, with a

243 Existing genes were curated for new inheritance patterns where evidence existed.

244 ally in those from families with a recessive inheritance pattern, who may benefit from early diagnosi

245 in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance of intestin

246 SCA8 shows a complex inheritance pattern with extremes of incomplete penetran

247 ons for this observation include (i) diverse inheritance patterns with incomplete penetrance and vari

248 The offspring displayed complex inheritance patterns with one of the parents consistentl

249 V with FBI benefits more from information on inheritance patterns within families yielding better imp

250 Outcomes were stratified per inheritance pattern (X-Linked AS (XLAS)), Autosomal Domi