ライフサイエンスコーパス: autosomal dominant inheritance

1 ted in genes previously only associated with autosomal dominant inheritance.

2 INF2-related FSGS and explain this disease's autosomal dominant inheritance.

3 receptor 2 dysregulation, which explains the autosomal dominant inheritance.

4 s CEP85L variants, including 2 families with autosomal dominant inheritance.

5 from 18 to 51 years and a pattern suggesting autosomal dominant inheritance.

6 two loci on chromosomes 1p13 and 2q37 under autosomal dominant inheritance.

7 are cancer-associated genodermatosis with an autosomal dominant inheritance.

8 ly transmitted from father to son indicating autosomal dominant inheritance.

9 rated vertical transmission, consistent with autosomal dominant inheritance.

10 ected with typical JOAG and that demonstrate autosomal dominant inheritance.

11 juvenile open-angle glaucoma (JOAG) exhibits autosomal dominant inheritance.

12 actile protein genes have been reported with autosomal dominant inheritance.

13 ssue disorders (fibrillinopathies) that show autosomal dominant inheritance.

14 s offspring of affected patients, suggesting autosomal dominant inheritance.

15 keratosis congenita in a large pedigree with autosomal dominant inheritance.

16 l tremor-dominant parkinsonism of apparently autosomal dominant inheritance.

17 PKC can be sporadic, or familial with autosomal dominant inheritance.

18 The disorder may be familial with apparent autosomal dominant inheritance.

19 insulin secretion, early disease onset, and autosomal dominant inheritance.

20 disorder with around a third of cases having autosomal dominant inheritance.

21 oxygen affinity of hemoglobin, and typically autosomal dominant inheritance.

22 nd often in adolescence or childhood, and by autosomal dominant inheritance.

23 lls, headache and malaise associated with an autosomal-dominant inheritance.

24 onsecutive generations, highly suggestive of autosomal-dominant inheritance.

25 MODY) is a subtype of diabetes defined by an autosomal dominant inheritance and a young onset.

26 athy (ARVC) is a complex cardiomyopathy with autosomal dominant inheritance and age-related incomplet

27 sible for 2-5% of NIDDM, is characterized by autosomal dominant inheritance and an age of onset of 25

28 hildhood onset of diffuse skin fibrosis with autosomal dominant inheritance and complete penetrance.

29 s a monogenic autoinflammatory disorder with autosomal dominant inheritance and has been associated w

30 Huntington disease (HD) has autosomal dominant inheritance and is caused by mutation

31 notype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in

32 Families displayed autosomal dominant inheritance and there was an evolving

33 d in the heterozygous state in a family with autosomal-dominant inheritance and a missense change (c.

34 the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stim

35 dependent diabetes mellitus characterized by autosomal-dominant inheritance and onset before 25 years

36 It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (wi

37 otypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of a

38 5 (47%) of their at-risk relatives (assuming autosomal dominant inheritance), and in only 1 of 19 (5%

39 ne have been reported in three families with autosomal dominant inheritance, and a family with autoso

40 riants were enriched in essential genes, for autosomal-dominant inheritance, and in protein binding a

41 geneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood.

42 es early-onset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetr

43 Familial VUR most closely conforms to autosomal-dominant inheritance, but because of variable

44 itions are congenital, as the consequence of autosomal dominant inheritance, coalitions also can be a

45 Familial cases follow autosomal-dominant inheritance due to mutations in one o

46 hree unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.

47 ome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >10

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

49 X-linked, autosomal recessive and autosomal dominant inheritance have been found in differ

50 Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutatio

51 ecently been recognized to be familial, with autosomal dominant inheritance in many cases.

52 demonstrated in one affected individual and autosomal dominant inheritance in nine affected individu

53 solve difficult cases, such as diseases with autosomal dominant inheritance, incomplete penetrance, o

54 Autosomal dominant inheritance is often seen, and a locu

55 h autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have b

56 Blau's syndrome, a genetic disorder of autosomal dominant inheritance, may be confused with inf

57 DM is characterized by autosomal dominant inheritance, muscular dystrophy, myot

58 We report a new family with autosomal dominant inheritance of a late onset rapidly p

59 A large east Texas family with autosomal dominant inheritance of a novel bleeding disor

60 Our results can explain the autosomal dominant inheritance of AID variants with trun

61 ndings explain the clinical presentation and autosomal dominant inheritance of CPVT-CaM mutations and

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

63 onetheless, in the majority of families with autosomal dominant inheritance of EDS, there appears to

64 e in a large European Australian family with autosomal dominant inheritance of frontotemporal dementi

65 This is the first report of a family with autosomal dominant inheritance of keratoconus in associa

66 MMRpro models the autosomal dominant inheritance of mismatch repair mutati

67 e, Birt-Hogg-Dube syndrome, characterized by autosomal dominant inheritance of multiple benign skin l

68 emia (HaT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPS

69 (HalphaT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPS

70 syndrome (HMPS) is characterized by apparent autosomal dominant inheritance of multiple types of colo

71 r's disease are familial and associated with autosomal dominant inheritance of mutations in genes enc

72 ons and 112 members, we firmly establish the autosomal dominant inheritance of one of the beta-spectr

73 However, there are families with apparent autosomal dominant inheritance of PDS in which the risk

74 of developmental stuttering in a family with autosomal dominant inheritance of persistent stuttering.

75 We studied a family with autosomal dominant inheritance of PFCP in which four sub

76 n kinase AKT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resista

77 We have identified a family with autosomal dominant inheritance of WHIM syndrome that is

78 affected individuals from two families with autosomal-dominant inheritance of coloboma identified tw

79 in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystoni

80 Segregation analysis suggested autosomal-dominant inheritance of the combined phenotype

81 f distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneury

82 De novo occurrence and autosomal-dominant inheritance of variants, including pa

83 Diseases with autosomal dominant inheritance often show pleiotropy, di

84 ilament light (NEFL) gene with predominantly autosomal dominant inheritance, often presenting with a

85 ogeneous monogenic disorder characterized by autosomal dominant inheritance, onset usually before 25

86 oid progenitors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence.

87 ations of large functional effect and showed autosomal dominant inheritance or were de novo.

88 Additionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated

89 view of BAV as a condition with an entirely autosomal dominant inheritance pattern and emphasize the

90 ibed as a bleeding disorder that exhibits an autosomal dominant inheritance pattern and presents seve

91 bundle-branch block, > or =1-mm STE) with an autosomal dominant inheritance pattern characterized by

92 oth the OFCD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 famili

93 atic cancers is commonly recognized, with an autosomal dominant inheritance pattern in approximately

94 Rarely, an autosomal dominant inheritance pattern occurs.

95 riginally reported over 50 years ago with an autosomal dominant inheritance pattern of chronic pancre

96 Here we studied two families with an autosomal dominant inheritance pattern of keloids.

97 MP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS.

98 ete clinical description of a family with an autosomal dominant inheritance pattern of retinal dystro

99 In families, emphysema showed an autosomal dominant inheritance pattern, along with pulmo

100 dementia with long disease duration, with an autosomal dominant inheritance pattern, and with tau-ric

101 sease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condi

102 h extraction, in which MS segregates with an autosomal dominant inheritance pattern.

103 Canale-Smith syndrome (CSS) phenotype and an autosomal dominant inheritance pattern.

104 s and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been descri

105 Autosomal dominant inheritance, reduced penetrance, and

106 The autosomal dominant inheritance strongly suggests that FE

107 any of these diseases occur as the result of autosomal dominant inheritance, suggesting that WT and m

108 Autosomal dominant inheritance was observed in all famil

109 interval, and possible deviance from strict autosomal dominant inheritance, we performed nonparametr

110 POLE/POLD1-associated syndrome shows an autosomal dominant inheritance, whereas NTHL1-associated

111 Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yiel

112 lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance.

113 BAV/AscAA shows autosomal dominant inheritance with incomplete penetranc

114 Our findings indicate autosomal dominant inheritance with reduced penetrance,

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