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1 kin fragility, woolly hair, and palmoplantar keratoderma.
2 nical improvement and a notable reduction of keratoderma.
3 undation for future research in palmoplantar keratoderma.
4 netic spectrum of patients with palmoplantar keratoderma.
5 dermis is a key event in the pathogenesis of keratoderma.
6 neralized scaling, and frequent palmoplantar keratoderma.
7 athy and the cutaneous disorder palmoplantar keratoderma.
8 nding the pathogenesis of human palmoplantar keratoderma.
9 y by nail dystrophy and painful palmoplantar keratoderma.
10 ngdom identified six individuals with palmar keratoderma.
11 most painful, debilitating aspect is plantar keratoderma.
12 utation linked to epidermolytic palmoplantar keratoderma.
13 ially normalizes in the outer SC in loricrin keratoderma.
14 re, autosomal recessive form of palmoplantar keratoderma.
15 mes, cause both dominant and recessive human keratoderma.
16 of British descent with striate palmoplantar keratoderma.
17  by dilated cardiomyopathy, woolly hair, and keratoderma.
18 nherited skin disorder, striate palmoplantar keratoderma.
19  numerous abnormalities, including cutaneous keratodermas.
20 re known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its
21  three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, erythrokeratoderm
22 6 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM
23 cessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis.
24 nt Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that ha
25 trophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts.
26 k between Slurp2 deficiency and palmoplantar keratoderma and to be confident that the disease phenoty
27 with or without hyperkeratosis, palmoplantar keratoderma, and erythroderma.
28 romic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID.
29 ts with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestations.
30 Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (componen
31 sease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidat
32 ad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease) to chromoso
33 ults in skin fragility, diffuse palmoplantar keratoderma, and woolly hair with no symptoms of cardiom
34  ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair.
35 ses, the genetic defects causing many of the keratodermas are still largely unknown.
36 ders, known collectively as the palmoplantar keratodermas, are unified by the phenotypic characterist
37 keratinopathies such as striate palmoplantar keratoderma, as reported in this study.
38 omal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recessive condition
39 VS is characterized by papular and honeycomb keratoderma associated with constrictions of digits lead
40 hyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel
41 port three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural
42 role of insertional mutations in Vohwinkel's Keratoderma associated with ichthyosis.
43 C manifests with nail thickening and plantar keratoderma before school age in more than three-quarter
44 nd affected family members with palmoplantar keratoderma between September 1, 2016, and December 31,
45 ragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype, we identifi
46                                              Keratodermas comprise a heterogeneous group of highly de
47 d with topical sirolimus for painful plantar keratoderma due to chronic blistering.
48                   Patients with palmoplantar keratoderma due to DSP variants were found, which is imp
49                   Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatos
50                   Epidermolytic palmoplantar keratoderma (EPPK) is one of >30 autosomal-dominant huma
51                   Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant
52 PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
53 200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which each entail pai
54 utations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping ph
55 enetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutati
56 racterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and lim
57 lude painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokera
58 ystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpi
59 aring loss, blinding keratitis, palmoplantar keratoderma, ichthyosiform erythroderma and a high incid
60  mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome.
61 ts; fingernail changes in 40.6%; and plantar keratoderma in 6.9%.
62  at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal
63 ce the characteristic ichthyosis of loricrin keratoderma in mouse and man.
64 e with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds.
65 kening in PC-K6a and PC-K17; (3) more palmar keratoderma in PC-K16; (4) cysts primarily in PC-K17 and
66 ss frequent occurrence of nail dystrophy and keratoderma in PC-K6b, PC-K6c, and PC-K16; (2) concurren
67 (G4134A) that segregates with a palmoplantar keratoderma in three kindreds.
68 olar surface of the paws (i.e., palmoplantar keratoderma), increased keratinocyte proliferation, and
69                Our findings show that palmar keratoderma is a clinical indicator of recessive EPP, id
70                                 Palmoplantar keratoderma is a hallmark of pachyonychia congenita (PC)
71             The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affect
72 minant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white,
73 how that the barrier abnormality in loricrin keratoderma is linked to a defective CE scaffold, result
74 ylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that
75 ness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused b
76 racterized by palmoplantar and periorificial keratoderma, itch, and hair loss.
77  bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystr
78 ion in a previously genotyped human loricrin keratoderma kindred.
79  by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show c
80 ted in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform derm
81                                 Palmoplantar keratoderma, nail dystrophy, and enamel defects are comm
82 taneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and spars
83          Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be pre
84 er (TOC), and non-epidermolytic palmoplantar keratoderma (NEPPK); increased iRhom2 cleavage in a kera
85 der either newly diagnosed with palmoplantar keratoderma or being followed up for the disease at refe
86 nel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for specific varian
87 inant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime
88  the clinical features of human palmoplantar keratoderma: overcornification and thickening of the epi
89 akin gene which causes a generalized striate keratoderma particularly affecting the palmoplantar epid
90          In the present study, we describe a keratoderma phenotype in mice in response to suprabasal
91      To ascertain the basis for the loricrin keratoderma phenotype, we assessed epidermal structure a
92                                 Palmoplantar keratoderma poses diagnostic challenges due to its clini
93         Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia ty
94 26-H73R and Cx26-S183F, causing palmoplantar keratoderma (PPK) and deafness.
95 DSG) 1, cause the skin diseases palmoplantar keratoderma (PPK) and severe dermatitis, multiple allerg
96                                 Palmoplantar keratoderma (PPK) are debilitating lesions that arise in
97     Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda.
98                       Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonyc
99 2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin
100 d to a rare autosomal recessive palmoplantar keratoderma (PPK), Mal de Meleda (MdM), which is charact
101 cause of diffuse, transgradient palmoplantar keratoderma (PPK).
102 RP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK).
103 rophy, oral leukokeratosis, and palmoplantar keratoderma (PPK).
104                                 Palmoplantar keratodermas (PPKs) are a group of disorders that are di
105                             The palmoplantar keratodermas (PPKs) are a large group of clinically and
106 ychia congenita (PC)-associated palmoplantar keratoderma, prompted us to examine the role of Keratin
107 PP which is characterized by seasonal palmar keratoderma, relatively low erythrocyte protoporphyrin c
108 enomic DNA from individuals with/without the keratoderma revealed a sequence variant, which would res
109 ariants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlat
110  From soon after birth, the mice exhibited a keratoderma similar to that in humans carrying the Conne
111 inherited skin disease, striate palmoplantar keratoderma (SPPK), mapping to chromosome 18q12.1, in wh
112 naling and is linked to striate palmoplantar keratoderma (SPPK).
113 ation in a proband with striate palmoplantar keratoderma that also results in a null allele and haplo
114 e locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oeso
115 a mutation that causes punctate palmoplantar keratoderma type 1 (PPKP1), a human skin disease.
116  with the skin disease punctate palmoplantar keratoderma type 1 (PPKP1).
117 nherited skin disorder punctate palmoplantar keratoderma type I.
118                                      Painful keratoderma was prominent with K6A and K16 mutations.
119 with diffuse nonepidermolytic palmar-plantar keratoderma was shown to be the loss in one allele of th
120 the pathogenesis of Naxos disease-associated keratoderma, we generated Jup mutant mice by inactivatin
121 hat understanding the molecular basis of the keratodermas will underscore the importance of the integ
122 ent's dermatologist treated his palmoplantar keratoderma with systemic retinoids.
123 irl with severe nonmutilating (palmo)plantar keratoderma without periorificial keratotic plaques asso

 
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