ライフサイエンスコーパス: single-gene defect

1 red by the deletion, effectively producing a single gene defect.

2 example of human hypertension arising from a single gene defect.

3 e difficult to reconcile with the model of a single-gene defect.

4 and highly heritable, often being caused by single gene defects.

5 .6%) had blended phenotypes resulting from 2 single gene defects.

6 ple malformations, cytogenetic syndromes, or single-gene defects.

7 Single gene defects account for up to 2-6% of cases, but

8 hlights a growing appreciation of the hidden single gene defects affecting T-cells within the group o

9 Atrioventricular septal defect seems to be a single-gene defect and tetralogy of Fallot a polygenic d

10 ated classic KS in childhood may result from single-gene defects and provides proof-of-principle that

11 Several single gene defects are known that produce obesity in an

12 nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities

13 test in 25 (15%); and molecular analysis of single gene defect because of family history in ten (6%)

14 Harnessing the genetic heterogeneity of single gene defects could inform etiopathogenesis and he

15 f many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic synd

16 despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.

17 present study identifies the first autosomal single-gene defect for these cardiac malformations and i

18 ) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous F

19 A number of single gene defects have been identified in patients wit

20 Multiple single-gene defects have been identified, resulting in r

21 To date, several single-gene defects have been implicated in the pathogen

22 kin blistering in multisystem disorders with single gene defects highlight the concept of syndromic E

23 These results link a single gene defect in Wnt signaling to CAD and multiple

24 ular diagnostic technology, new entities and single-gene defects in patients with PIDD are rapidly be

25 diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure

26 us disease (CGD) can result from any of four single gene defects involving the components of the supe

27 These data show that a single gene defect leading to a neurological disorder ca

28 born errors of immunity (IEIs) are caused by single gene defects leading to immune deficiency and/or

29 However, single gene defects occur only in a minority of cases, a

30 Early-onset familial forms of dementia with single-gene defects occur in Latin America, Asia, and Af

31 ion of offspring with cytogenetic syndromes, single-gene defects, or simple malformations.

32 ed BA in humans, and the question of whether single gene defects play a major role remains open.

33 Although some single gene defect respiratory diseases such as cystic f

34 ults are consistent with the notion that the single gene defect responsible for heterochromatic splay

35 PURPOSE OF REVIEW: To review the single-gene defects that can mimic rheumatologic disease

36 n made in understanding nephrolithiasis from single gene defects, the understanding of polygenetic ca

37 at this widely studied model segregates as a single-gene defect with recessive inheritance.