ライフサイエンスコーパス: recessive inheritance

1 etween D16S415 and D16S503 (under a model of recessive inheritance).

2 ted, deceased siblings, suggesting autosomal recessive inheritance.

3 n Gja8 and Gja3 in mice cause cataracts with recessive inheritance.

4 ropathies of autosomal dominant and X-linked recessive inheritance.

5 eal diabetes insipidus, suggesting autosomal recessive inheritance.

6 providing additional evidence for autosomal recessive inheritance.

7 -thalassemia mutations, it normally exhibits recessive inheritance.

8 aicism in one of the parents, rather than to recessive inheritance.

9 aining three patients had presumed autosomal recessive inheritance.

10 ified in affected individuals with autosomal recessive inheritance.

11 ted with an overlapping genodermatosis after recessive inheritance.

12 gregation patterns consistent with autosomal recessive inheritance.

13 ,000 individuals and can exhibit dominant or recessive inheritance.

14 d multiplex families with presumed autosomal recessive inheritance.

15 be pathogenic in the context of dominant or recessive inheritance.

16 ce with reduced penetrance, and/or autosomal recessive inheritance.

17 ranian cohort were consistent with autosomal recessive inheritance.

18 holine transporter deficiency with autosomal recessive inheritance.

19 trophy and can be transmitted by dominant or recessive inheritance.

20 molog of, 2 (CRB2) consistent with autosomal-recessive inheritance.

21 Three quarters of cases show autosomal-recessive inheritance.

22 ozygosity (ROHs) are recognized signature of recessive inheritance.

23 nfirmed segregated consistent with autosomal recessive inheritance.

24 SBP1) in 4 families with dominant and 1 with recessive inheritance.

25 sical BBS that is transmitted with autosomal-recessive inheritance.

26 yarteritis nodosa, consistent with autosomal recessive inheritance.

27 cially a germinal mosaicism and an autosomal recessive inheritance.

28 segregated with disease status and followed recessive inheritance.

29 atric neurodegenerative disease of autosomal recessive inheritance.

30 Pedigree analysis suggested an autosomal recessive inheritance.

31 ing with homozygous or compound heterozygous recessive inheritance.

32 inked to a Mendelian disorder with autosomal-recessive inheritance.

33 (8/39) of families could be compatible with recessive inheritance.

34 families, is a striking example of X-linked recessive inheritance.

35 ythrocyte protoporphyrin concentrations, and recessive inheritance.

36 bserved, and pedigree analysis has suggested recessive inheritance.

37 lethal syndromic polymicrogyria of autosomal recessive inheritance.

38 J-1 gene cause early onset PD with autosomal recessive inheritance.

39 nd molecularly the condition shows autosomal recessive inheritance.

40 odel segregates as a single-gene defect with recessive inheritance.

41 y proved young-onset tauopathy with apparent recessive inheritance.

42 Ninety genes were associated with autosomal recessive inheritance, 16 were maternally inherited, 5 w

43 ication of variants that cause diseases with recessive inheritance(2,3).

44 Recessive inheritance accounted for the elevated risk fo

45 populations, mainly a high rate of autosomal recessive inheritance and a unique composition of causat

46 these alleles was consistent with autosomal recessive inheritance and complete clinical penetrance.

47 of 91 well-documented families with X-linked recessive inheritance and in 22% of the total 234 proban

48 The PZQ response showed recessive inheritance and marker-assisted selection of p

49 ciency, typically characterized by autosomal recessive inheritance and multisystem phenotypes.

50 drome is a similar condition, with autosomal recessive inheritance and the additional features of dis

51 The recessive inheritance and the temperature-sensitive natu

52 Patients with autosomal or X-linked recessive inheritance and those with heterozygous TINF2

53 ified mutations in three families displaying recessive inheritance and two with dominant inheritance.

54 rithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe

55 Those with autosomal recessive inheritance are in general much less common, a

56 tudy is consistent with dominant rather than recessive inheritance at the STBMS1 locus.

57 Our findings illustrate how dominant and recessive inheritance can be explained by the effects an

58 patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations

59 , lambdaS values >10 are possible only under recessive inheritance, dominant inheritance with relativ

60 n all families are consistent with autosomal recessive inheritance excluding any evidence of triallel

61 her support for possible dominant as well as recessive inheritance for AMBN-related AI and for multip

62 nalysis and the association analysis support recessive inheritance for the locus, which is compatible

63 ed and the family history is compatible with recessive inheritance--genetic testing of MYH is indicat

64 s an autosomal-dominant trait, but autosomal-recessive inheritance has also been reported.

65 Most cases are sporadic, but autosomal recessive inheritance has been described.

66 A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gyps

67 ough sporadic cases are common and autosomal recessive inheritance has been reported.

68 d familial forms with autosomal dominant and recessive inheritance have been described.

69 s, but both autosomal-dominant and autosomal-recessive inheritance have been described.

70 subjects with autosomal-dominant as well as -recessive inheritance have been reported.

71 rphic nature of the mutation may explain its recessive inheritance, if protein levels in homozygotes,

72 127 families confirmed 24 de novo variants, recessive inheritance in 8 families, and supported recla

73 a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family originati

74 Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously

75 Recognizing recessive inheritance in children with cardiomyopathy is

76 an patients), highlighting the importance of recessive inheritance in consanguineous populations.

77 eral MMAF-associated genes with an autosomal recessive inheritance in human affected individuals, but

78 d 21 female individuals (53%) with autosomal recessive inheritance indicated by the detection of two

79 Although strict recessive inheritance is assumed, patients carrying a si

80 esence of pathogenic variants - representing recessive inheritance - is particularly important when f

81 sing variants following a model of autosomal recessive inheritance led to the identification of eleve

82 tely 45% (20-62%) decreased CVD risk under a recessive inheritance mode in diabetic patients.

83 Here, we performed a family-based GWAS of a recessive inheritance model using whole-genome sequencin

84 .0 (P>0.05) under any additive, dominant, or recessive inheritance model.

85 l genotype-phenotype correlation and despite recessive inheritance, numerous patients were identified

86 ified a consanguineous family with autosomal recessive inheritance of a bleeding disorder that mimics

87 five consanguineous Pakistani families with recessive inheritance of a combination of anonychia and

88 igrees of varying ethnicity, suggesting that recessive inheritance of a high frequency risk allele oc

89 -2) gene, whose mutation is characterized by recessive inheritance of a long 26 hr period phenotype,

90 We identified a patient with recessive inheritance of a missense mutation (169G-->A;

91 In this study, we provide evidence that the recessive inheritance of a severe long-QT syndrome type

92 This phenotype is due to the autosomal recessive inheritance of a single gene on mouse chromoso

93 is shows that the disorder cosegregates with recessive inheritance of a single point mutation, a tran

94 le of ACTN2 in the human heart and establish recessive inheritance of ACTN2 truncation as causative o

95 Most cases of the disease are due to recessive inheritance of an approximately 1 kb deletion

96 plex pedigrees displaying apparent autosomal recessive inheritance of an uncharacterized skeletal dys

97 Recessive inheritance of complex phenotypes can be linke

98 s offer new insight into dominant as well as recessive inheritance of conformational diseases and off

99 Autosomal recessive inheritance of deleterious STX11 variants impa

100 We hypothesized that recessive inheritance of gene-disrupting variants may re

101 of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only r

102 on-repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas.

103 CID result from either X-linked or autosomal recessive inheritance of mutations in a known causative

104 se macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4.

105 We showed that recessive inheritance of mutations in Dok-7, which resul

106 Autosomal recessive inheritance of mutations in SepSecS-Ala239Thr,

107 rders of childhood, resulting from autosomal recessive inheritance of mutations in the CLN3 gene.

108 Recessive inheritance of Naxos disease and a founder eff

109 ionally, we investigated the contribution of recessive inheritance of NOD2 alleles in adult IBD patie

110 ase (CD), our data formally demonstrate that recessive inheritance of NOD2 alleles is a mechanistic d

111 We found that recessive inheritance of NOD2 variants explains ~ 7% of

112 analysis of body-mass index (BMI) supported recessive inheritance of obesity, in pedigrees ascertain

113 Recessive inheritance of pest resistance has favored sus

114 Collectively, our findings show that recessive inheritance of rare and low frequency deleteri

115 ained by refuges of cotton without Bt toxin, recessive inheritance of resistance, incomplete resistan

116 ons that factors delaying resistance include recessive inheritance of resistance, low initial frequen

117 All three families showed recessive inheritance of the adenomatous polyposis pheno

118 enotypes at this locus obey simple Mendelian recessive inheritance of the black-throated phenotype ch

119 ii, explaining the unpatterned phenotype and recessive inheritance of the M. cardinalis allele.

120 e disorder may have resulted from homozygous recessive inheritance of the mutant allele from an ances

121 currence and consanguinity suggest autosomal recessive inheritance of this distinct entity.

122 e not affected as an indication of autosomal recessive inheritance of this mutation.

123 X gene and HLA typing of this family suggest recessive inheritance of TNX deficiency and connective-t

124 A homozygous mutation associated with recessive inheritance only rarely co-acts with a dominan

125 tional mutations in the other PROKR2 allele (recessive inheritance) or another gene (digenicity).

126 To date, only an autosomal-recessive inheritance pattern has been described in indi

127 Although an autosomal-recessive inheritance pattern has been hypothesized, pat

128 f these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS cas

129 nant and recessive alleles, but an autosomal recessive inheritance pattern is much more common.

130 edigree studies indicate a likely homozygous recessive inheritance pattern of the defect.

131 th diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum an

132 e affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we under

133 Consistent with a recessive inheritance pattern, as suggested by pedigrees

134 rs, especially in those from families with a recessive inheritance pattern, who may benefit from earl

135 iant of epidermolysis bullosa with autosomal recessive inheritance pattern.

136 d-type participants, supporting an autosomal recessive inheritance pattern.

137 utations in DDX3X, suggestive of an X-linked recessive inheritance pattern.

138 entified a large AF family with an autosomal recessive inheritance pattern.

139 ocular defects, consistent with an autosomal recessive inheritance pattern.

140 own dominant genes need to be considered for recessive inheritance patterns.

141 t gene (epsilon1267delG) and demonstrate its recessive inheritance segregates with disease in 6 unrel

142 Autosomal-recessive inheritance, severe to profound sensorineural

143 lone may be insufficient for counseling, but recessive inheritance should be considered likely in sev

144 iuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a larg

145 Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause

146 ome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which in

147 uman disease gene characterized by autosomal recessive inheritance to be identified as a result of a

148 Assuming autosomal recessive inheritance, two novel sequence variants were

149 thus would be expected to show an autosomal recessive inheritance, was subjected to clinical evaluat

150 Assuming autosomal recessive inheritance, we identify 27 genes that have ho

151 Assuming recessive inheritance, we mapped the locus in three fami

152 a rare inborn immunodeficiency of autosomal recessive inheritance, we sought to characterize the und

153 PHP1 gene scores, often underpinned by clear recessive inheritance, were observed in patients from di

154 MN/CMT2 families with evidence for autosomal recessive inheritance, who had tested negative for mutat

155 For LOD scores, we assumed dominant and recessive inheritance with 50% penetrance.

156 ria for significant linkage under a model of recessive inheritance with a common diabetes allele (log

157 families that were consistent with autosomal recessive inheritance with a single mutation identified

158 riants that are known to cause diseases with recessive inheritance with significant heterozygous phen

159 for the A334T allele, establishing autosomal recessive inheritance within families.

160 Despite recessive inheritance, X-linked dystonia-parkinsonism (L