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1 consistent with the diagnosis of hypoplastic amelogenesis imperfecta.
2 Amelx and Mmp20 mutations cause amelogenesis imperfecta.
3 because defects in KLK4 cause hypomaturation amelogenesis imperfecta.
4 human enamelin gene cause autosomal dominant amelogenesis imperfecta.
5 tosomal-recessive hypoplastic-hypomaturation amelogenesis imperfecta.
6 efects have been identified in kindreds with amelogenesis imperfecta.
7 of undiagnosed autosomally dominant cases of amelogenesis imperfecta.
8 enamel are grouped under the classification amelogenesis imperfecta.
9 es the need for family-specific diagnosis of amelogenesis imperfecta.
10 the enamelin gene in kindreds suffering from amelogenesis imperfecta.
11 hreonine, as in some cases of human X-linked amelogenesis imperfecta.
12 ation identified in a case of human X-linked amelogenesis imperfecta.
13 defects in the enamel, a condition known as amelogenesis imperfecta.
14 opment result in enamel anomalies, including amelogenesis imperfecta.
15 Atg3(F/F) conditional knockout mice) exhibit amelogenesis imperfecta.
16 ability, early-onset epileptic seizures, and amelogenesis imperfecta.
17 or mutated, resulting in a condition called amelogenesis imperfecta.
18 ous variants in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypicall
19 ciated with autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically cha
22 is significant because RELT mutations cause amelogenesis imperfecta (AI) and this directly links ADA
25 Hereditary enamel disorders referred to as amelogenesis imperfecta (AI) can severely affect the dev
31 ge would lead to an enamel defect similar to amelogenesis imperfecta (AI) in humans, we generated tra
32 generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six app
48 s the first gene involved in the etiology of amelogenesis imperfecta (AI) that does not encode a secr
49 ively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalil
50 ort stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel.
51 genes, FAM20A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia a
52 ied a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failu
53 f26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the for
54 in gene a prime candidate in the etiology of amelogenesis imperfecta (AI), a genetic disease in which
56 d displayed severe enamel defects that mimic amelogenesis imperfecta (AI), with a rough, irregular en
57 AM gene have been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotypes ranging fr
69 tin1, and Pax9 as candidate genes related to amelogenesis imperfecta and the NRF2-mediated pathway.
70 e non-syndromic enamel malformations, termed amelogenesis imperfecta, and ablation of Mmp20 in mice r
72 ic changes in enamel phenotype, resulting in amelogenesis imperfecta, enamel that is defective and ea
74 APH, OMIM *614829) cause autosomal recessive amelogenesis imperfecta, however, the function of ODAPH
75 We furthermore develop a disease model of amelogenesis imperfecta in a three-dimensional (3D) orga
76 mutated amelogenin (TgP70T), which leads to amelogenesis imperfecta in humans, have heterogeneous en
77 omes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis an
78 ese findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermo
80 erized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasio
81 Fam20 family lead to human diseases such as amelogenesis imperfecta, nephrocalcinosis, lethal and no
82 logenesis) and associated pathologies (e.g., amelogenesis imperfecta or molar hypomineralization), an
83 hreonine, as in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were su
84 hreonine, as in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were su
85 c regions similar to those in enamel of male amelogenesis imperfecta patients with an identical mutat
86 in X-linked forms of the human enamel defect amelogenesis imperfecta resulting from amelogenin gene m
87 z syndrome, an epileptic encephalopathy with amelogenesis imperfecta that has parallels to V-ATPase-r
88 ferentiation and that its failure results in amelogenesis imperfecta through ectopic NRF2 activation.
90 ions in amelogenin observed in patients with amelogenesis imperfecta who demonstrate defects in ename