ライフサイエンスコーパス: single-gene defect

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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