ライフサイエンスコーパス: synostosis

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1 n EFNA4 are a cause of non-syndromic coronal synostosis.

2 ry formation and the pathogenesis of coronal synostosis.

3 ee of 81 patients with non-syndromic coronal synostosis.

4 performed in 26 patients with single-suture synostosis.

5 n young infants with sagittal and unicoronal synostosis.

6 hould be tested for in patients with coronal synostosis.

7 syndrome, typically associated with coronal synostosis.

8 ions in Tcf12 and Twist1 have severe coronal synostosis.

9 inantly occurred in individuals with coronal synostosis and accounted for 32% and 10% of subjects wit

10 enerated a mouse model of frontonasal suture synostosis and midfacial hypoplasia through the tissue-s

11 e performed in six patients with multisuture synostosis, and 61 studies were performed in 26 patients

12 l depression, mixed hearing loss, radioulnar synostosis, and coccygeal appendage.

13 r patients with TWIST mutations, are coronal synostosis, brachycephaly, low frontal hairline, facial

14 of normal exhibit postnatal multiple-suture synostosis; by contrast, embryonic calvarial development

15 n and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia,

16 ory subluxation, congenital occipitocervical synostosis, congenital unilateral absence of C1, odontoi

17 ed clinical disorder include multiple-suture synostosis, craniofacial dysmorphism, Chiari malformatio

18 transgenic newborn mice (with mild sagittal synostosis) demonstrated continuous bone growth and over

19 karyocytic thrombocytopenia with radio-ulnar synostosis, familial platelet syndrome with predispositi

20 All patients with sagittal synostosis had a significant immediate postoperative inc

21 enetic testing when common causes of coronal synostosis have been excluded.

22 ygous loss of Twist1 function causes coronal synostosis in both mice and humans.

23 Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a ga

24 als from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250A

25 mature fusion of these bones, termed coronal synostosis, is a common human developmental anomaly.

26 onatal growth retardation and death, coronal synostosis, ocular proptosis, precocious sternal fusion,

27 Synostosis of facial sutures has been reported to cause

28 bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects o

29 In single-suture synostosis, results of seven of the 26 preoperative tran

30 In multisuture synostosis, results of six of the nine preoperative tran

31 Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by

32 Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive dise

33 ant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proxim

34 ta establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder ca

35 Multiple-synostosis syndrome is an autosomal dominant disorder ch

36 As observed in spondylocarpotarsal synostosis syndrome patients, Filamin B mutant mice disp

37 r, in a cohort of six probands with multiple-synostosis syndrome, only one was found to be heterozygo

38 ctyly C, the protein encoded by the multiple-synostosis-syndrome allele was secreted as a mature GDF5

39 In Twist1(+/-) mice with coronal synostosis, we found that the frontal-parietal boundary

40 urrence of proximal symphalangism and carpal synostosis, we identified six different point mutations

41 main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal ti

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