ライフサイエンスコーパス: dominant inheritance

1 families in whom oligodontia segregates with dominant inheritance.

2 g of affected patients, suggesting autosomal dominant inheritance.

3 differences correlate with recessive versus dominant inheritance.

4 congenita in a large pedigree with autosomal dominant inheritance.

5 ominant parkinsonism of apparently autosomal dominant inheritance.

6 an families whose members exhibit apparently dominant inheritance.

7 can be sporadic, or familial with autosomal dominant inheritance.

8 rder may be familial with apparent autosomal dominant inheritance.

9 isplaying recessive inheritance and two with dominant inheritance.

10 dysregulation, which explains the autosomal dominant inheritance.

11 ecretion, early disease onset, and autosomal dominant inheritance.

12 inity of hemoglobin, and typically autosomal dominant inheritance.

13 n adolescence or childhood, and by autosomal dominant inheritance.

14 generations, highly suggestive of autosomal-dominant inheritance.

15 All mutations were compatible with de novo dominant inheritance.

16 ith around a third of cases having autosomal dominant inheritance.

17 51 years and a pattern suggesting autosomal dominant inheritance.

18 possible conditions that might prevent such dominant inheritance.

19 on chromosomes 1p13 and 2q37 under autosomal dominant inheritance.

20 catagen and that the mutation displays semi-dominant inheritance.

21 -associated genodermatosis with an autosomal dominant inheritance.

22 I:C levels, proportionately low VWF:RCo, and dominant inheritance.

23 tted from father to son indicating autosomal dominant inheritance.

24 ical transmission, consistent with autosomal dominant inheritance.

25 typical JOAG and that demonstrate autosomal dominant inheritance.

26 pen-angle glaucoma (JOAG) exhibits autosomal dominant inheritance.

27 tein genes have been reported with autosomal dominant inheritance.

28 ders (fibrillinopathies) that show autosomal dominant inheritance.

29 eterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.

30 subtype of diabetes defined by an autosomal dominant inheritance and a young onset.

31 2-5% of NIDDM, is characterized by autosomal dominant inheritance and an age of onset of 25 years or

32 nset of diffuse skin fibrosis with autosomal dominant inheritance and complete penetrance.

33 We studied a family exhibiting dominant inheritance and defined a mutation (AE1-M909T)

34 (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated ins

35 Mutations identified in all families with dominant inheritance and in the one simplex subject with

36 diabetes mellitus characterized by autosomal-dominant inheritance and onset before 25 years of age.

37 These conditions show recessive or dominant inheritance and result in either loss of recept

38 Families displayed autosomal dominant inheritance and there was an evolving pattern o

39 niece, and half sisters are consistent with dominant inheritance and variable expressivity of the ph

40 occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predomi

41 e p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal r

42 their at-risk relatives (assuming autosomal dominant inheritance), and in only 1 of 19 (5%) of unrel

43 subtle functional effect; 2 showed possible dominant inheritance, and 2 did not.

44 en reported in three families with autosomal dominant inheritance, and a family with autosomal recess

45 allenge, insensitivity to high-K+ challenge, dominant inheritance, and absence of myotonia.

46 Cardiomyopathy, neuropathy, and dominant inheritance are frequent associated features.

47 familial Alzheimer's disease with autosomal dominant inheritance are not well understood.

48 nset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetrance.

49 ilial VUR most closely conforms to autosomal-dominant inheritance, but because of variable penetrance

50 The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance.

51 congenital, as the consequence of autosomal dominant inheritance, coalitions also can be acquired by

52 Familial cases follow autosomal-dominant inheritance due to mutations in one of three ge

53 ated families of Greek origin with autosomal dominant inheritance for the PD phenotype.

54 Dominant inheritance has been reported in two large fami

55 a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years.

56 is, i.e. somatic single-hit inactivation and dominant inheritance, has not been extensively explored.

57 However, pedigrees consistent with autosomal dominant inheritance have also been documented.

58 X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigr

59 oximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or dele

60 D90A pedigrees with dominant inheritance have now been reported and this app

61 itance model), the best single gene model is dominant inheritance if only BPI is considered.

62 en recognized to be familial, with autosomal dominant inheritance in many cases.

63 icated either autosomal-dominant or X-linked-dominant inheritance in this family.

64 icult cases, such as diseases with autosomal dominant inheritance, incomplete penetrance, or mutation

65 Autosomal dominant inheritance is often seen, and a locus in the p

66 l recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped

67 's syndrome, a genetic disorder of autosomal dominant inheritance, may be confused with infantile sar

68 cases are familial (FALS), typically with a dominant inheritance mode.

69 allenge intervention [n = 3 TT; n = 3 GG/GT (dominant inheritance model)].

70 For the single- and two-locus dominant-inheritance models that we studied, when a dise

71 ative mechanism has been inferred based upon dominant inheritance, mulitimerization of monomers to fo

72 DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and

73 uggest a possible molecular paradigm for the dominant inheritance observed in some pituitary disorder

74 We report a new family with autosomal dominant inheritance of a late onset rapidly progressive

75 A large east Texas family with autosomal dominant inheritance of a novel bleeding disorder has be

76 Our results can explain the autosomal dominant inheritance of AID variants with truncated E5 i

77 rodimer with Cu,Zn SOD may contribute to the dominant inheritance of ALS mutations.

78 formational maturation that may underlie the dominant inheritance of ARDP.

79 Because the predicted dominant inheritance of cancer risk has not been demonst

80 individuals from two families with autosomal-dominant inheritance of coloboma identified two differen

81 lain the clinical presentation and autosomal dominant inheritance of CPVT-CaM mutations and suggest t

82 rately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia.

83 APC mutations are associated with autosomal dominant inheritance of disease in humans.

84 Mutations in presenilin 1 (PS1) lead to dominant inheritance of early onset familial Alzheimer d

85 , in the majority of families with autosomal dominant inheritance of EDS, there appears to be linkage

86 Although mutations in the APP gene lead to dominant inheritance of familial AD, the normal function

87 for type-preferring slots might support the dominant inheritance of FHM1.

88 hese results support the hypothesis that the dominant inheritance of Fpn-iron overload disease is due

89 ults provide a molecular explanation for the dominant inheritance of hepcidin resistant iron overload

90 TNZD and provide the first evidence for the dominant inheritance of heterozygous ZnT-2 mutations via

91 sufficiency as a prevalent mechanism for the dominant inheritance of HHD, by suggesting that the leve

92 However, dominant inheritance of hypermethioninemia, also hypothe

93 viding an explanation for the R264H-mediated dominant inheritance of hypermethioninemia.

94 the first report of a family with autosomal dominant inheritance of keratoconus in association with

95 MMRpro models the autosomal dominant inheritance of mismatch repair mutations, with

96 gg-Dube syndrome, characterized by autosomal dominant inheritance of multiple benign skin lesions, re

97 HMPS) is characterized by apparent autosomal dominant inheritance of multiple types of colorectal pol

98 The dominant inheritance of mutant SOD1 and lack of symptoms

99 e are familial and associated with autosomal dominant inheritance of mutations in genes encoding the

100 adically or have been associated with mostly dominant inheritance of mutations in more than 30 genes.

101 ul for individuals with recessive as well as dominant inheritance of nonsyndromic auditory neuropathy

102 2 members, we firmly establish the autosomal dominant inheritance of one of the beta-spectrin null mu

103 We studied a family with autosomal dominant inheritance of PFCP in which four subjects were

104 Dominant inheritance of point mutations in CuZn superoxi

105 at risk for plasma cell dyscrasias and that dominant inheritance of posttranslationally modified aut

106 in principle against pests with recessive or dominant inheritance of resistance.

107 KT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resistance and di

108 At both QTLs, the data are consistent with dominant inheritance of the allele contributing to obesi

109 Segregation analysis suggested autosomal-dominant inheritance of the combined phenotype.

110 Given the dominant inheritance of the condition and the risk of su

111 o the mother's safety and in relation to the dominant inheritance of the condition.

112 t mutations probably represent null alleles, dominant inheritance of the disease may result from hapl

113 oviding insight into an understanding of the dominant inheritance of the disease.

114 Consistent with the dominant inheritance of this type of FAD, this function

115 Families identified with dominant inheritance of thoracic aortic aneurysms and di

116 relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variab

117 De novo occurrence and autosomal-dominant inheritance of variants, including paternal mos

118 We have identified a family with autosomal dominant inheritance of WHIM syndrome that is caused by

119 Mutations in PS1 lead to dominant-inheritance of early-onset familial Alzheimer's

120 Diseases with autosomal dominant inheritance often show pleiotropy, different de

121 onogenic disorder characterized by autosomal dominant inheritance, onset usually before 25 yr of age,

122 itors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence.

123 large functional effect and showed autosomal dominant inheritance or were de novo.

124 FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the

125 AV as a condition with an entirely autosomal dominant inheritance pattern and emphasize the variabili

126 bleeding disorder that exhibits an autosomal dominant inheritance pattern and presents severe bleedin

127 nch block, > or =1-mm STE) with an autosomal dominant inheritance pattern characterized by incomplete

128 The dominant inheritance pattern has been postulated to refl

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

130 rs is commonly recognized, with an autosomal dominant inheritance pattern in approximately 10% of all

131 Rarely, an autosomal dominant inheritance pattern occurs.

132 tiation and also suggest a mechanism for the dominant inheritance pattern of a hereditary disease res

133 The dominant inheritance pattern of FAD indicates that it ma

134 re we studied two families with an autosomal dominant inheritance pattern of keloids.

135 n, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS.

136 yte differentiation, which thus explains the dominant inheritance pattern of PTS despite the presence

137 al description of a family with an autosomal dominant inheritance pattern of retinal dystrophy associ

138 In families, emphysema showed an autosomal dominant inheritance pattern, along with pulmonary fibro

139 ith long disease duration, with an autosomal dominant inheritance pattern, and with tau-rich neurofib

140 neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a

141 ancer-prone genodermatosis with an X-linked, dominant inheritance pattern.

142 on, in which MS segregates with an autosomal dominant inheritance pattern.

143 th syndrome (CSS) phenotype and an autosomal dominant inheritance pattern.

144 ed platelets, decreased ATP secretion, and a dominant inheritance pattern.

145 ith the HGF trait observed to segregate in a dominant inheritance pattern.

146 >T; p.Q215X) causes juvenile cataract with a dominant inheritance pattern.

147 which both autosomal-recessive and autosomal-dominant inheritance patterns have been described.

148 mutation has been reported in families with dominant inheritance patterns of Parkinson's disease, su

149 e been reported to cause cataracts with semi-dominant inheritance patterns.

150 Autosomal dominant inheritance, reduced penetrance, and 7 desmosom

151 The autosomal dominant inheritance strongly suggests that FENIB is cau

152 ain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later o

153 Dominant inheritance was apparent in seven patients, car

154 and possible deviance from strict autosomal dominant inheritance, we performed nonparametric linkage

155 o-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maxi

156 Both families showed dominant inheritance with a clinical phenotype resemblin

157 = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance.

158 X-linked dominant inheritance with male lethality is probably res

159 changes show glutamine length dependence and dominant inheritance with recruitment of wild-type prote

160 , the majority of studies indicate autosomal dominant inheritance with reduced penetrance.

161 e possible only under recessive inheritance, dominant inheritance with relatively rare (<5%) disease-