ライフサイエンスコーパス: bullosa

1 cal phenotype of patients with epidermolysis bullosa.

2 ents with recessive dystrophic epidermolysis bullosa.

3 to cutaneous diseases such as epidermolysis bullosa.

4 ng gene replacement therapy for epidermolyis bullosa.

5 ients with dystrophic forms of epidermolysis bullosa.

6 ng disorder Herlitz junctional epidermolysis bullosa.

7 blistering disease, dystrophic epidermolysis bullosa.

8 members at risk for junctional epidermolysis bullosa.

9 candidate gene for dystrophic epidermolysis bullosa.

10 ering skin disease, dystrophic epidermolysis bullosa.

11 agnostic of Herlitz junctional epidermolysis bullosa.

12 y and resilience in junctional epidermolysis bullosa.

13 s also perturbed in junctional epidermolysis bullosa.

14 ecessive dystrophic subtype of epidermolysis bullosa.

15 ariants of dominant dystrophic epidermolysis bullosa.

16 e blistering disorders such as epidermolysis bullosa.

17 llosa, and dystrophic forms of epidermolysis bullosa.

18 ns in some forms of junctional epidermolysis bullosa.

19 variant of dominant dystrophic epidermolysis bullosa.

20 1) in patients with dystrophic epidermolysis bullosa.

21 for junctional and dystrophic epidermolysis bullosa.

22 interstitial lung disease, and epidermolysis bullosa.

23 transplantation for dystrophic epidermolysis bullosa.

24 ents with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chronic skin damage.

25 th generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junctional epiderm

26 Severe generalized junctional epidermolysis bullosa, a lethal hereditary blistering disorder, is usu

27 th generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junctional epidermo

28 Epidermolysis bullosa acquisita (EBA) is a chronic mucocutaneous autoi

29 Epidermolysis bullosa acquisita (EBA) is a prototypic organ-specific a

30 Epidermolysis bullosa acquisita (EBA) is an acquired blistering skin d

31 Epidermolysis bullosa acquisita (EBA) is an acquired bullous disease o

32 Epidermolysis bullosa acquisita (EBA) is an AIBD associated with autoa

33 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

34 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

35 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

36 Epidermolysis bullosa acquisita (EBA) is an autoimmune sub-epidermal b

37 ue destruction in experimental epidermolysis bullosa acquisita (EBA), an AIBD caused by autoantibodie

38 employed immunization-induced epidermolysis bullosa acquisita (EBA), an autoimmune bullous disease c

39 In epidermolysis bullosa acquisita (EBA), an autoimmune disease with seve

40 ic those seen in patients with epidermolysis bullosa acquisita (see the related article beginning on

41 new therapeutic strategies for epidermolysis bullosa acquisita and related autoimmune diseases.

42 Epidermolysis bullosa acquisita autoantibodies bound to this domain ma

43 mine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present in normal hum

44 izable glycosylation in murine epidermolysis bullosa acquisita in congenic mouse strains with the dis

45 Epidermolysis bullosa acquisita is a subepidermal blistering disease a

46 Epidermolysis bullosa acquisita is an autoimmune blistering disease of

47 Epidermolysis bullosa acquisita is an autoimmune skin-blistering disea

48 ence microscopy, not diagnosed epidermolysis bullosa acquisita or anti-laminin-332 mucous membrane pe

49 rthermore, autoantibodies from epidermolysis bullosa acquisita patients also reacted with NC2/COL.

50 IgG from an epidermolysis bullosa acquisita serum containing autoantibodies to epi

51 lied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous disease charact

52 ases are often associated with epidermolysis bullosa acquisita, Crohn's disease being the most freque

53 foliaceus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphigoid/cicatricia

54 tribute to the pathogenesis of epidermolysis bullosa acquisita.

55 ified as bullous pemphigoid or epidermolysis bullosa acquisita.

56 Only bilateral concha bullosa affects maxillary sinus volumes.

57 dren with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation.

58 f alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder with pathology s

59 er risk for Herlitz junctional epidermolysis bullosa and all variants of junctional epidermolysis bul

60 ns in patients with dystrophic epidermolysis bullosa and compared them with an established protocol u

61 he presence of unilateral or dominant concha bullosa and contralateral direction of septal deviation

62 a connection between the presence of concha bullosa and direction of septal deviation.

63 he milder recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes

64 tyrosinemia type I, junctional epidermolysis bullosa and type 1 diabetes.

65 th generalized atrophic benign epidermolysis bullosa, and applies a new methodology to define and cha

66 that seen in human junctional epidermolysis bullosa, and death occurs within a few days after birth.

67 lantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermolysis bullosa.

68 I in the absence of junctional epidermolysis bullosa, and highlights the shared AI phenotype arising

69 ty of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were co

70 eritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in which significa

71 different forms of junctional epidermolysis bullosa appear to affect certain critical intracellular

72 ile hemangiomas and dystrophic epidermolysis bullosa are reviewed.

73 = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in cSCC in situ (

74 severe generalized junctional epidermolysis bullosa born in the years 2000-2015.

75 the lethal form of junctional epidermolysis bullosa but, as adults, displayed the milder generalized

76 ffective treatment or cure for epidermolysis bullosa, but bone marrow transplantation has been sugges

77 severe generalized junctional epidermolysis bullosa by SCT is a last-ditch attempt still lacking pro

78 ents with recessive dystrophic epidermolysis bullosa can be corrected by homology-directed DNA repair

79 ents with recessive dystrophic epidermolysis bullosa can be morphologically altered, reduced in numbe

80 espectively, while the overall epidermolysis bullosa carrier frequency was calculated to be one in 11

81 based therapies for dystrophic epidermolysis bullosa caused by genetic deficiency of collagen VII.

82 MB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening skin fragilit

83 ive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogene

84 The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin

85 The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII colla

86 Dystrophic epidermolysis bullosa (DEB) is a blistering skin disease caused by mut

87 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous d

88 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous d

89 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bullous disorder c

90 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bullous disorder o

91 Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder ch

92 Dystrophic epidermolysis bullosa (DEB) is due to mutations in the type VII collag

93 coding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous disease.

94 fferent variants of dystrophic epidermolysis bullosa (DEB).

95 n shown to underlie dystrophic epidermolysis bullosa (DEB).

96 tering skin disease dystrophic epidermolysis bullosa (DEB).

97 Bilateral concha bullosa did not influence the incidence of bilateral max

98 ients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its mineral conte

99 Heritable forms of epidermolysis bullosa (EB) are characterized by chronic, lifelong blis

100 Patients with epidermolysis bullosa (EB) do not carry a significantly increased risk

101 Epidermolysis bullosa (EB) is a class of intractable, rare, genetic di

102 Epidermolysis bullosa (EB) is a clinically and genetically heterogeneo

103 Epidermolysis bullosa (EB) is a group of autosomal dominant and recess

104 Epidermolysis bullosa (EB) is a group of genetic disorders in which pa

105 Epidermolysis bullosa (EB) is a group of mechanobullous genodermatoses

106 Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rar

107 Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the

108 prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be

109 Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic

110 Epidermolysis bullosa (EB) simplex is a rare genetic condition typifie

111 Epidermolysis bullosa (EB) with late-onset muscular dystrophy (EB-MD)

112 Epidermolysis bullosa (EB), a group of complex heritable blistering di

113 The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of sk

114 erited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often

115 ence in the different types of epidermolysis bullosa (EB).

116 ermal loss, such as junctional epidermolysis bullosa (EB).

117 autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering is associated

118 tions in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distinct mutations,

119 hat may arise in patients with epidermolysis bullosa following BPAG2 gene replacement, and can be use

120 Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal variant of junctional epi

121 Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlethal variant of

122 complex, and several forms of epidermolysis bullosa, genetic research has resulted in an evolving un

123 The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering disease affecting

124 tients with Herlitz junctional epidermolysis bullosa (H-JEB).

125 erosis or recessive dystrophic epidermolysis bullosa has led to the common finding of senescence and

126 Nasal septal deviation, contrary to concha bullosa, has influence on the development of maxillary s

127 y nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail dystrophy, pa

128 Angina bullosa hemorrhagica (ABH) describes benign subepithelia

129 u-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII

130 ations of recessive dystrophic epidermolysis bullosa in humans.

131 inical phenotype of junctional epidermolysis bullosa in the proband in this family probably arises du

132 uggest that Herlitz junctional epidermolysis bullosa in this patient developed as a result of reducti

133 ed severe recessive dystrophic epidermolysis bullosa, in which blood and marrow transplantation can a

134 nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin 5.

135 nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin 5.

136 Recessive dystrophic epidermolysis bullosa is a devastating blistering disease caused by mu

137 Epidermolysis bullosa is a family of diseases characterized by blister

138 Junctional epidermolysis bullosa is a group of hereditary bullous disorders resul

139 Epidermolysis bullosa is a group of heritable skin fragility disorders

140 Herlitz junctional epidermolysis bullosa is a heritable bullous disease caused by mutatio

141 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub

142 Junctional epidermolysis bullosa is a heterogeneous autosomal recessively inherit

143 Epidermolysis bullosa is a heterogeneous group of heritable blistering

144 Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blisterin

145 Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blist

146 Epidermolysis bullosa is caused by mutations in at least 14 genes, lea

147 resence of nasal septal deviation and concha bullosa is connected with the development of sinuses and

148 Recessive dystrophic epidermis bullosa is ultrastructurally characterized by the absenc

149 anobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mu

150 Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six disti

151 Junctional epidermolysis bullosa (JEB) is a heterogeneous group of rare inherited

152 Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder charact

153 Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering

154 Junctional epidermolysis bullosa (JEB) is an inherited mechanobullous disease cha

155 ng disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations in the LAMB3 ge

156 onlethal variant of junctional epidermolysis bullosa (JEB).

157 In Herlitz junctional epidermolysis bullosa (laminin 5 abnormalities, n = 4) these values we

158 of distinct Herlitz junctional epidermolysis bullosa mutations in LAMB3 to 35.

159 different forms of junctional epidermolysis bullosa (n = 13).

160 autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls.

161 severe generalized junctional epidermolysis bullosa occurred more often than published previously.

162 Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant sk

163 ze that mutations in K2e underlie ichthyosis bullosa of Siemens and provide a comprehensive mutation

164 e 2B domain of K2e, were found in ichthyosis bullosa of Siemens families.

165 others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder chara

166 th generalized atrophic benign epidermolysis bullosa often show decreased expression of type XVII col

167 t in patients with one type of epidermolysis bullosa (OMIM #226650).

168 Herlitz junctional epidermolysis bullosa (OMIM#226700) is a lethal, autosomal recessive b

169 ed severe recessive dystrophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes b

170 ring skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant.

171 vances in our understanding of epidermolysis bullosa pathophysiology have provided the necessary foun

172 The recessive dystrophic epidermolysis bullosa patients had a homozygous single base-pair frame

173 rience in recessive dystrophic epidermolysis bullosa patients is probably related to other factors, s

174 etected, and in the junctional epidermolysis bullosa patients transcripts with in-frame skipping of e

175 The junctional epidermolysis bullosa patients were compound heterozygotes for a frame

176 we have screened 93 dystrophic epidermolysis bullosa patients yielding an overall sensitivity of 87%,

177 ndings in recessive dystrophic epidermolysis bullosa patients' skin were indistinguishable from norma

178 In the recessive dystrophic epidermolysis bullosa patients, transcripts containing in-frame skippi

179 inant and recessive dystrophic epidermolysis bullosa patients.

180 rmolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom the manifestations were m

181 molysis bullosa and junctional epidermolysis bullosa phenotypes in these families, reverse transcript

182 New epidermolysis bullosa phenotypes, genotypes and modes of transmission

183 stinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that o

184 (s), may be responsible for an epidermolysis bullosa pruriginosa phenotype.

185 nical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriat

186 ents with recessive dystrophic epidermolysis bullosa (RDEB) and normal dermal fibroblasts.

187 g disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneous squamous cel

188 Recessive dystrophic epidermolysis bullosa (RDEB) is a complex inherited skin disorder caus

189 Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating genodermatosis caused b

190 portance: Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating, often fatal, inherited

191 e recessive dystrophic form of epidermolysis bullosa (RDEB) is a disorder of incurable skin fragility

192 Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility disorder char

193 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of

194 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder c

195 Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering dis

196 Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder charac

197 Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutatio

198 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder

199 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder characterized by

200 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of type VII collagen

201 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of type VII collagen

202 ilizing a recessive dystrophic epidermolysis bullosa (RDEB) knockout mouse model.

203 uals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell carcinoma (SCC

204 er coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a constant wound

205 tility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due to defective ex

206 cts cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder often accompa

207 neralized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genoder

208 uals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutat

209 lable for recessive dystrophic epidermolysis bullosa (RDEB), a severe heritable blistering disorder c

210 disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the large COL7A1

211 g disease recessive dystrophic epidermolysis bullosa (RDEB).

212 fected by recessive dystrophic epidermolysis bullosa (RDEB).

213 uals with recessive dystrophic epidermolysis bullosa (RDEB).

214 lies with recessive dystrophic epidermolysis bullosa (RDEB).

215 blistering disease dystrophic epidermolysis bullosa (RDEB).

216 ively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, through December

217 ssive dystrophic or junctional epidermolysis bullosa, respectively.

218 aled that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen

219 e set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mutation in exon

220 ed: p=0.731), nor unilateral/dominant concha bullosa (right: p=0.512; left: p=0,430) affected the asy

221 hrough studies that began with epidermolysis bullosa simplex (EBS) and now extend to a group of autos

222 Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant s

223 Importance: Epidermolysis bullosa simplex (EBS) is a group of clinically and genet

224 Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder char

225 Epidermolysis bullosa simplex (EBS) is a rare genetic condition typifi

226 Epidermolysis bullosa simplex (EBS) is a rare inherited condition in w

227 Epidermolysis bullosa simplex (EBS) is an incurable, inherited skin-bl

228 Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caus

229 The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in

230 tions in K5 or K14 genes cause epidermolysis bullosa simplex (EBS), a disorder with blistering in the

231 ied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal dominant condition c

232 One such disease is epidermolysis bullosa simplex (EBS), caused by mutations in the struct

233 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal layer keratinocyte

234 Js) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (MS) with myast

235 implicated in the etiology of epidermolysis bullosa simplex (EBS).

236 The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease

237 to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperkeratosis.

238 Epidermolysis bullosa simplex are dominant disorders of skin fragility

239 Epidermolysis bullosa simplex associated with late-onset muscular dyst

240 In epidermolysis bullosa simplex associated with plectin mutations the va

241 Epidermolysis bullosa simplex Dowling-Meara (MIM# 1317600) is the most

242 d these genes in a family with epidermolysis bullosa simplex Dowling-Meara.

243 in residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C K14 mutants.

244 e severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-negative mutations

245 of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) network collaps

246 nction with a possible role in epidermolysis bullosa simplex pathogenesis.

247 This is the second epidermolysis bullosa simplex patient reported with a premature termin

248 We report an epidermolysis bullosa simplex patient with a novel single base substit

249 Mutations in epidermolysis bullosa simplex patients could interfere with K14 degrad

250 n in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense mutation R125C

251 re faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable before commencin

252 tar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpetiform blisteri

253 ost severe of the three common epidermolysis bullosa simplex subtypes.

254 ld be applied to patients with epidermolysis bullosa simplex with intraepidermal blistering.

255 n the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frame

256 t clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L

257 from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and mic

258 ients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n = 3) or with aut

259 sociated with skin blistering (epidermolysis bullosa simplex).

260 epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma,

261 te, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita and Messmann epi

262 m macular dystrophy (VMD1) and epidermolysis bullosa simplex, type Ogna (EBS1).

263 een described in patients with epidermolysis bullosa simplex.

264 notype-genotype correlation in epidermolysis bullosa simplex.

265 ither of these genes can cause epidermolysis bullosa simplex.

266 genetic disorder Dowling-Meara epidermolysis bullosa simplex.

267 an autosomal recessive form of epidermolysis bullosa simplex.

268 one marrow transplantation for epidermolysis bullosa simplex.

269 ous cell carcinomas arising in epidermolysis bullosa skin.

270 ons in predicting phenotype in epidermolysis bullosa solely based on mutation analysis of genomic DNA

271 lications in each of the major epidermolysis bullosa subtypes.

272 sease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A

273 severe generalized junctional epidermolysis bullosa treated with allogeneic stem cell therapy, but w

274 nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction amplification of

275 nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction amplification of

276 t nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction amplification o

277 er generalized atrophic benign epidermolysis bullosa variant.

278 and all variants of junctional epidermolysis bullosa was calculated to be one in 781 and one in 350,

279 Bilateral concha bullosa was connected with larger volume of maxillary si

280 computed tomography examinations and concha bullosa was observed in 42.1% of the patients' examinati

281 ated with recessive dystrophic epidermolysis bullosa, was unable to form antiparallel dimers.

282 ed in patients with dystrophic epidermolysis bullosa, we studied how these amino acid substitutions a

283 Agger nasi cells and concha bullosa were equally frequent (30.6%), and Haller cells

284 th generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation.

285 ile hemangiomas and dystrophic epidermolysis bullosa will be discussed.

286 50), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern.

287 patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (OMIM #226730).

288 ions in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia.

289 Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a

290 n who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and alloge

291 n autosomal recessive disorder epidermolysis bullosa with muscular dystrophy (MD-EBS) shows epidermal

292 In junctional epidermolysis bullosa with pyloric atresia (alpha6beta4 abnormalities,

293 Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal reces

294 Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with n

295 Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a c

296 rescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have suggested abn

297 g the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB).

298 ient with a form of junctional epidermolysis bullosa with skin fragility and dental anomalies who is

299 shed in the field of inherited epidermolysis bullosa within the past few years.

300 th severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity of 58%.