ライフサイエンスコーパス: clubfoot

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1 equinovarus (CTEV) is the commonest form of clubfoot.

2 of lower extremity abnormalities, including clubfoot.

3 ng PITX1 in a patient with isolated familial clubfoot.

4 at PITX1 haploinsufficiency could also cause clubfoot.

5 that accounts for similar findings in human clubfoot.

6 d in 3 of 66 probands with familial isolated clubfoot.

7 at the locus in a sibling pair with isolated clubfoot.

8 tory" as having a first-degree relative with clubfoot.

9 ctively, were hydrocephalus (100% and 100%), clubfoot (100% and 99.8%), injuries or wounds (54.7% and

10 Clubfoot, a common major structural malformation, develo

11 h severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal sy

12 Clubfoot affects 1 in 1000 live births, although little

13 risk factors among 346 infants with isolated clubfoot and 3,029 infants without defects from the Atla

14 of this syndrome combine brain atrophy with clubfoot and arthrogryposis.

15 ilial factors and smoking in the etiology of clubfoot and identifies a potentially important interact

16 relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot e

17 table cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encod

18 hildren, and babies with a family history of clubfoot, but studies of risks associated with maternal

19 he use of antiviral drugs was more common in clubfoot cases than in controls (odds ratio = 4.22, 95%

20 jor structural malformations (i.e., isolated clubfoot); controls were mothers of 2,037 children born

21 ease, inflammatory arthritis, infection, and clubfoot deformities.

22 ways for future investigations of idiopathic clubfoot etiology in humans.

23 lubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development.

24 iption factor PITX1 previously implicated in clubfoot etiology.

25 mutations were identified that segregate in clubfoot families.

26 tion, the possibility of this interaction in clubfoot has not been examined.

27 plication segregated with autosomal-dominant clubfoot in all three families but with reduced penetran

28 wo congenital malformations were identified: clubfoot in one twin, and cardiac malformation in a sing

29 Clubfoot is a common musculoskeletal birth defect for wh

30 Clubfoot is one of the most common severe musculoskeleta

31 Peroneal artery hypoplasia occurred in the clubfoot limb and corresponded spatially with small late

32 deletion segregated with autosomal dominant clubfoot over three generations.

33 a gene involved in early limb development in clubfoot pathogenesis also suggests additional pathways

34 tudy the role of PITX1 haploinsufficiency in clubfoot pathogenesis, we began to breed Pitx1 knockout

35 ers that undermine the outcomes of a Ponseti clubfoot program are primarily poverty and noncompliance

36 symmetric right-sided predominant idiopathic clubfoot segregating as an autosomal-dominant condition

37 ht-sided involvement in tibial hemimelia and clubfoot suggests that PITX1, or pathways involving PITX

38 quaint the reader with the Ponseti method of clubfoot treatment and to describe the features of the t

39 ique that make it superior to other forms of clubfoot treatment.

40 Ponseti treatment of clubfoot was available at 46% (95% 38.8-53.2) of distric

41 mice were previously reported to be normal, clubfoot was observed in 20 of 225 Pitx1(+/-) mice, resu

42 Clubfoot was unilateral in 16 of the 20 affected Pitx1(+

43 padias, hydrocephalus, cleft lip/palate, and clubfoot) was determined by physical examination.

44 identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants w

45 ale, population-based, case-control study of clubfoot with detailed information on maternal medicatio

46 Cases were 646 mothers of children with clubfoot without other major structural malformations (i

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