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 ropathies of autosomal dominant and X-linked recessive inheritance.

3 eal diabetes insipidus, suggesting autosomal recessive inheritance.

4 providing additional evidence for autosomal recessive inheritance.

5 -thalassemia mutations, it normally exhibits recessive inheritance.

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

7 aining three patients had presumed autosomal recessive inheritance.

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

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

10 ted with an overlapping genodermatosis after recessive inheritance.

11 Three quarters of cases show autosomal-recessive inheritance.

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

13 nfirmed segregated consistent with autosomal recessive inheritance.

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

15 yarteritis nodosa, consistent with autosomal recessive inheritance.

16 cially a germinal mosaicism and an autosomal recessive inheritance.

17 segregated with disease status and followed recessive inheritance.

18 atric neurodegenerative disease of autosomal recessive inheritance.

19 ranian cohort were consistent with autosomal recessive inheritance.

20 ing with homozygous or compound heterozygous recessive inheritance.

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

22 (8/39) of families could be compatible with recessive inheritance.

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

24 ythrocyte protoporphyrin concentrations, and recessive inheritance.

25 bserved, and pedigree analysis has suggested recessive inheritance.

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

27 nd molecularly the condition shows autosomal recessive inheritance.

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

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

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

31 Recessive inheritance accounted for the elevated risk fo

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

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

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

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

36 The recessive inheritance and the temperature-sensitive natu

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

57 Recognizing recessive inheritance in children with cardiomyopathy is

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

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

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

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

62 .0 (P>0.05) under any additive, dominant, or recessive inheritance model.

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

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

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

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

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

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

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

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

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

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

73 Recessive inheritance of complex phenotypes can be linke

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

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

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

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

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

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

80 Autosomal recessive inheritance of mutations in SepSecS-Ala239Thr,

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

82 Recessive inheritance of Naxos disease and a founder eff

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

84 Recessive inheritance of pest resistance has favored sus

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

105 iant of epidermolysis bullosa with autosomal recessive inheritance pattern.

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

107 Autosomal-recessive inheritance, severe to profound sensorineural

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

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

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

111 Assuming autosomal recessive inheritance, two novel sequence variants were

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

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

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

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

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

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

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

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

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