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1 ouston syndrome (autosomal dominant hidrotic ectodermal dysplasia).
2 l dystrophy accompanied by other features of ectodermal dysplasia.
3 Tabby) phenocopy human X-linked hypohidrotic ectodermal dysplasia.
4 issense variants causing autosomal recessive ectodermal dysplasia.
5 , leading to the human disorder hypohidrotic ectodermal dysplasia.
6 g during development results in hypohidrotic ectodermal dysplasia.
7 ing wild type fetuses a marked and permanent ectodermal dysplasia.
8  cells, and Ig production, but did not cause ectodermal dysplasia.
9 ly cause a syndrome of immune deficiency and ectodermal dysplasia.
10 ownstream adaptor EDARADD cause hypohidrotic ectodermal dysplasia.
11  understanding the basis of several forms of ectodermal dysplasia.
12 esent in a family affected with hypohidrotic ectodermal dysplasia.
13 erm-line human mutations were found to cause ectodermal dysplasia.
14  (95% CI, 1.8-3.8) for X-linked hypohidrotic ectodermal dysplasias.
15  is a unique resource for future research in ectodermal dysplasias.
16 tion-based research into the epidemiology of ectodermal dysplasias.
17 responsible for two rare diseases related to ectodermal dysplasias.
18 of the role of p63 in normal development and ectodermal dysplasias.
19         Of 844 patient records suggestive of ectodermal dysplasias, 791 patients (93.7%) had medical
20 f Hoxc13, which is the causative gene of the ectodermal dysplasia 9 (ECTD9) in human patients.
21 oreover, some affected individuals displayed ectodermal dysplasia, a congenital condition that can re
22 n the EDA gene cause anhidrotic/hypohidrotic ectodermal dysplasia, a disorder characterized by defect
23  pathway are mutated in humans and mice with ectodermal dysplasias--a failure of hair and tooth devel
24              Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a disorder characterized
25 s of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails.
26 yndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teet
27 atient, a female with mental retardation and ectodermal dysplasia and a balanced translocation, t(X;9
28 cause human diseases, including ectrodactyly ectodermal dysplasia and facial clefting (EEC) syndrome.
29 an result in congenital anomalies, including ectodermal dysplasia and harlequin ichthyosis.
30 e of incontinentia pigmenti and hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
31               We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, ga
32 sult in survival of males subjects, but with ectodermal dysplasia and immunodeficiency.
33  LRP6 mutation in patients with hypohidrotic ectodermal dysplasia and reveal the dynamic expression p
34  responsible for the most common form of the ectodermal dysplasia and the defective orthologous gene
35 h domain or those associated with anhidrotic ectodermal dysplasia and the downless phenotype.
36  births was 14.5 (95% CI, 12.2-16.7) for all ectodermal dysplasias and 2.8 (95% CI, 1.8-3.8) for X-li
37  females [62.1%]), of whom 319 had confirmed ectodermal dysplasias and 77 were likely cases.
38  7 patients to rule out the effects of other ectodermal dysplasias and other tooth-related genes and
39                    Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrom
40  adult skin keratinocytes from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrom
41  gene result in immunodeficiency, anhidrotic ectodermal dysplasia, and enamel defects.
42 hat are characterized by limb abnormalities, ectodermal dysplasia, and facial anomalies.
43 entified in families with EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome.
44 ell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease.
45 recent advances in neurocutaneous disorders, ectodermal dysplasias, and the phenomenon of revertant g
46                                          The ectodermal dysplasias are a group of inherited autosomal
47 iciency, growth hormone deficiency, and mild ectodermal dysplasia as previously described.
48 ding sequence of the DLX3 gene results in an ectodermal dysplasia called Tricho-Dento-Osseous syndrom
49 tis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia caused by dominant mutations of con
50           Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and
51 todermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmopla
52  and EDA-A2, result in X-linked hypohidrotic ectodermal dysplasia characterized by defects in two or
53 achyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail
54 ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing kera
55 arber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical
56 igmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of de
57 riable multisystemic involvements, including ectodermal dysplasia, Charcot-Marie-Tooth disease, short
58 tly, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defec
59 splasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292
60 p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not
61 utations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells
62 ells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 10626
63 fferentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown.
64 OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060).
65                                              Ectodermal dysplasias constitute a group of rare genetic
66 ions in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which
67 s with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (E
68              Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC)
69  responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1), which we id
70                             Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive dis
71  identified critical anhidrotic/hypohidrotic ectodermal dysplasia (EDA) effectors in four pathways, t
72                    Lesions in the anhidrotic ectodermal dysplasia (EDA) gene cause the recessive huma
73  factor family, is encoded by the anhidrotic ectodermal dysplasia (EDA) gene.
74                                   Anhidrotic ectodermal dysplasia (EDA) is a disorder characterized b
75                                   Anhidrotic ectodermal dysplasia (EDA) is a human genetic disorder o
76             X-linked anhidrotic/hypohidrotic ectodermal dysplasia (EDA) is caused by mutations in the
77 ntify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint i
78   Mutations in the EDA gene cause anhidrotic ectodermal dysplasia (EDA), with lesions in skin appenda
79                                              Ectodermal dysplasias (EDs) are a group of human patholo
80          EDA, the gene mutated in anhidrotic ectodermal dysplasia, encodes ectodysplasin, a TNF super
81 health care system to identify patients with ectodermal dysplasias from January 1, 1995, to August 25
82 ining 25 males, one infant with hypohidrotic ectodermal dysplasia had a mutation of NEMO.
83 ral human genetic syndromes featuring CP and ectodermal dysplasia have been linked to mutations in ge
84 o date, the genetic defects underlying these ectodermal dysplasias have not been determined.
85                   Patients with hypohidrotic ectodermal dysplasia (HED) and Tabby (Ta) mice lack swea
86                                 Hypohydrotic Ectodermal Dysplasia (HED) is a genetic disease seen in
87 thyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (HED) or Clouston syndrome, display
88                                 Hypohidrotic ectodermal dysplasia (HED) results from mutation of the
89  mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by
90                                 Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of tee
91                    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder character
92 the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice.
93 n Edar-or its ligand, Eda-cause hypohidrotic ectodermal dysplasia in humans and mice.
94 dages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle.
95 ominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infectio
96 f a large nationwide cohort of patients with ectodermal dysplasias, including detailed clinical and m
97     Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant
98                                              Ectodermal dysplasia is a group of congenital syndromes
99                  Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder
100                  Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectoderma
101  cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefti
102 sseous (TDO) syndrome, an autosomal dominant ectodermal dysplasia linked to mutations in the DLX3 gen
103 inked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1.
104  intrastromal corneal ring segments (n = 2), ectodermal dysplasia (n = 1), and corneal choristoma (n
105 alysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology.
106  of genetic causes of rare diseases, such as ectodermal dysplasias, orofacial clefts, and other crani
107 dominantly inherited disorders apparented to ectodermal dysplasias, pachyonychia congenita (PC), and
108 xplanation for the sensorineural deafness in ectodermal dysplasia patients with TRP63 mutations.
109  patients with diagnosis codes indicative of ectodermal dysplasias; patients registered in the Danish
110      The crinkled mutant has an hypohidrotic ectodermal dysplasia phenotype identical to that of the
111 R, and EDARADD in mice and humans produce an ectodermal dysplasia phenotype that includes missing tee
112 c.2292G>A; p.W764*) presented a hypohidrotic ectodermal dysplasia phenotype.
113 an genetic disorders: monilethrix, hair-nail ectodermal dysplasia, pseudofolliculitis barbae and wool
114                                          The ectodermal dysplasia receptor (EDAR) is a recently isola
115                                     X-linked ectodermal dysplasia receptor (XEDAR) is a recently isol
116                                     X-linked ectodermal dysplasia receptor (XEDAR) is a recently isol
117                        X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis o
118 al dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal developme
119                                              Ectodermal dysplasia/skin fragility syndrome is a recent
120  of plakophilin-1 is the underlying cause of ectodermal dysplasia/skin fragility syndrome, and skin f
121 combined positive predictive value (PPV) for ectodermal dysplasia-specific diagnosis codes was 67.0%
122  clinical findings of an autosomal-recessive ectodermal dysplasia syndrome provide insight into the r
123 nsistent with an unusual autosomal-recessive ectodermal dysplasia syndrome.
124 ut some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly
125 almoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia type III) is associated with oesoph
126 cohort study indicate that the prevalence of ectodermal dysplasias was lower than previously reported
127 e human genetic disorder X-linked anhidrotic ectodermal dysplasia, which is characterized by the poor
128 ypomorphic NEMO mutations result in X-linked ectodermal dysplasia with anhidrosis and immunodeficienc
129 y skin and intestinal disease in addition to ectodermal dysplasia with anhidrosis and immunodeficienc
130 n unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dyspl
131 B cells of patients with X-linked anhidrotic ectodermal dysplasia with hyper-IgM syndrome (HED-ID) wh
132                                              Ectodermal dysplasia with immune deficiency (EDI) is an
133                                              Ectodermal dysplasia with immune deficiency (EDI) is cau
134 inked syndrome characterized by hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID).
135                                Patients with ectodermal dysplasia with immunodeficiency (ED-ID) cause
136 mplicated in the genetic disorder anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID).
137 nger are found in patients with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) and
138 previously reported patients with anhidrotic ectodermal dysplasia with immunodeficiency caused by mut
139                               The anhydrotic ectodermal dysplasia with immunodeficiency patients' imm
140 he D406V mutation found in the NEMO ZF of an ectodermal dysplasia with immunodeficiency patients.
141 rosis, representing a new form of anhidrotic ectodermal dysplasia with immunodeficiency that is disti
142 O gene result in various forms of anhidrotic ectodermal dysplasia with immunodeficiency.
143 human genetic disorder called the anhydrotic ectodermal dysplasia with immunodeficiency.
144 incontinentia pigmenti (IP) and hypohidrotic ectodermal dysplasia with severe immunodeficiency.
145 NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED).
146 rized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED).These mutations prevent CD
147                        X-linked hypohidrotic ectodermal dysplasia (XLHED) is a heritable disorder of
148                        X-Linked hypohidrotic ectodermal dysplasia (XLHED) is a human congenital disor
149  (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized
150                    The X-linked hypohidrotic ectodermal dysplasia (XLHED), resulting from EDA deficie
151                        X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ect

 
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