戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1  properties of the elastin protein (dominant cutis laxa).
2 ompliance, severe emphysema, and loose skin (cutis laxa).
3 ement in patients with post-Sweet's syndrome cutis laxa.
4 ibulin 5 mutations cause autosomal-recessive cutis laxa.
5                             All patients had cutis laxa.
6 subtypes of Ehlers-Danlos syndrome (EDS) and cutis laxa.
7 d diseases supravalvular aortic stenosis and cutis laxa.
8 s 1-5 in fibroblasts from five patients with cutis laxa.
9 otype, the rare autosomal dominant condition cutis laxa.
10 ion and cause the connective tissue disorder cutis laxa.
11                                   Congenital cutis laxa, a rare syndrome with marked skin laxity and
12 ndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others.
13 heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin g
14 als present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphol
15 bulin-5 with features of autosomal recessive cutis laxa and marked defects in elastic fiber formation
16 neurological findings that overlap with both cutis laxa and spastic paraplegia.
17                     Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance.
18 n variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and
19 , such as alpha-1 antitrypsin deficiency and cutis laxa, caused by rare genetic variants.
20                                              Cutis laxa (CL) is a condition characterized by redundan
21                                              Cutis laxa (CL) is a heterogeneous group of genetic and
22 , age-related macular degeneration (AMD) and cutis laxa (CL), but the biochemical basis for the patho
23 y of diseases, ranging from retinopathies to cutis laxa (CL).
24 r data provide insights into the etiology of cutis laxa diseases and will have immediate impact on di
25  in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmon
26                          The pathogenesis of cutis laxa in this condition is poorly understood.
27                                              Cutis laxa is a condition characterized by redundant, pe
28                                    Inherited cutis laxa is a connective tissue disorder characterized
29                                     Acquired cutis laxa is a rare cutaneous manifestation of hematolo
30 ructural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), sugg
31                                         Both cutis laxa mutants increased dimerization.
32 tosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the huma
33                   We conclude that recessive cutis laxa mutations in fibulin-5 result in misfolding,
34 istological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation show
35 itative defects in elastin, resulting in the cutis laxa phenotype.
36 c recoil in affected tissues and explain the cutis laxa phenotype.
37 tion disease (HCDD) associated with acquired cutis laxa, renal involvement, and hypocomplementemia an
38          This phenotype, which resembles the cutis laxa syndrome in humans, reveals a critical functi
39 clinical and molecular spectrum of metabolic cutis laxa syndromes and further link defective extracel
40 ic fibers, the histopathological hallmark of cutis laxa, transmission electron microscopy of the derm
41 ne fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency.
42  protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C.
43                          Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and deve
44  collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3).
45 r elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively.
46 ne fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneury
47 tance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous mi
48 gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single
49 mpaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing mis
50 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features.