ライフサイエンスコーパス: dominantly-inherited

1 nked to trans-acting variants are most often dominantly inherited.

2 myopia/hyperopia; astigmatism appears to be dominantly inherited.

3 only 1% to 3% of patients and almost all are dominantly inherited.

4 PT, the gene that encodes Tau, mutations are dominantly inherited.

5 ms of CHI due to mosaic UPD in patients with dominantly inherited ABCC8 (or KCNJ11) gene mutations.

6 t onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyl

7 We found that among patients with dominantly inherited AD, genetic factors influence both

8 are associated with early-onset, autosomal, dominantly inherited AD, in addition to the at-risk gene

9 In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the

10 The recent identification of a dominantly inherited, adult-onset, progressive dementia

11 lation is supported by the identification of dominantly inherited alpha-syn (SNCA) gene mutations in

12 s of families with ADAD participating in the Dominantly Inherited Alzheimer Network (DIAN) study incl

13 The Dominantly Inherited Alzheimer Network conducted clinica

14 re data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational stu

15 able analyses of 338 lumbar punctures in the Dominantly Inherited Alzheimer Network observational stu

16 are of their mutation status enrolled in the Dominantly Inherited Alzheimer Network, a study of perso

17 ts (n = 299; age = 39.03 +/- 10.13) from the Dominantly Inherited Alzheimer Network, including 184 (6

18 CP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS)

19 uperoxide dismutase (SOD1) are causative for dominantly inherited amyotrophic lateral sclerosis (ALS)

20 t the HSP90-SUMO1 carrier state is autosomal-dominantly inherited and caused by the inability of SUMO

21 SCA8 is dominantly inherited and is caused by large CTG repeat e

22 two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-

23 Dominantly inherited ataxias (spinocerebellar ataxias) a

24 Another group of dominantly inherited ataxias are episodic ataxias due to

25 as with mutations in non-coding regions, and dominantly inherited ataxias with chromosomal localizati

26 CAG repeat (polyglutamine; polyQ) disorders, dominantly inherited ataxias with mutations in non-codin

27 t on chromosome 14q12 in a large family with dominantly inherited atrial septal defect.

28 dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphoproliferative synd

29 is, pyoderma gangrenosum, and acne (PAPA), a dominantly inherited autoinflammatory disorder mediated

30 ia (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cau

31 or-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that resu

32 amilial Danish dementia (FDD), are caused by dominantly inherited autosomal mutations and are charact

33 issense mutations of the GTPase Rab7 cause a dominantly inherited axonal degeneration known as Charco

34 fied and characterized a mutant mouse with a dominantly inherited axonal neuropathy caused by a Gars

35 This American family with dominantly inherited axonal polyneuropathy reveals a phe

36 x (TSC) and Peutz-Jeghers syndrome (PJS) are dominantly inherited benign tumor syndromes that share s

37 ied only in humans and are a common cause of dominantly inherited blindness from retinal degeneration

38 Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-typ

39 Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer disorder caused by mutations

40 genesis of Neurofibromatosis type 2 (NF2), a dominantly inherited cancer disorder caused by mutations

41 ltiple endocrine neoplasia type 2 (MEN 2), a dominantly inherited cancer predisposition.

42 recessive tumour suppressor genes (TSGs) in dominantly inherited cancer susceptibility syndromes.

43 Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer syndrome predisposing to a v

44 sporadic human cancers as well as in several dominantly inherited cancer syndromes known as phakomato

45 MEN2A is a dominantly-inherited cancer predisposition syndrome char

46 B identified in an extended kindred causes a dominantly inherited cardiac arrhythmia, initially descr

47 To investigate the mechanism of dominantly inherited cardiomyopathy, we generated transg

48 these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dyston

49 Dominantly inherited cataracts with differing clinical f

50 The Moonwalker (Mwk) mouse is a model of dominantly inherited cerebellar ataxia caused by a gain-

51 type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease.

52 he ubiquitin-like protein ubiquilin 2, cause dominantly inherited, chromosome-X-linked ALS and ALS/de

53 ve been shown to co-segregate with autosomal dominantly inherited coloboma.

54 We identified three families with a dominantly inherited complex of cold-induced urticaria,

55 Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limb

56 an mutation for Huntington's disease (HD), a dominantly inherited condition characterized by striatal

57 vestigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and

58 arie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the sec

59 Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, c

60 We identified a family with dominantly inherited congenital myopathy characterized b

61 more than a decade that Marfan syndrome - a dominantly inherited connective tissue disorder characte

62 dysregulation of OVOL2 as a common cause of dominantly inherited corneal endothelial dystrophies.

63 ave been studying mouse mutants that exhibit dominantly inherited defects in either skin and/or hair

64 ne and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mut

65 ne and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mut

66 ditary sensory neuropathy type 1 (HSN1) is a dominantly inherited degenerative disorder of the periph

67 es, characterized clinically as an autosomal dominantly inherited dementia, histologically by unique

68 r-J mice, a genetically authentic model of a dominantly inherited demyelinating neuropathy of humans.

69 2 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders.

70 is characterized by a syndrome of autosomal dominantly inherited diabetes and exocrine pancreatic dy

71 L-sIDOL mice are a robust, dominantly inherited, diet-inducible model for the study

72 on the current findings on Carney complex, a dominantly inherited disease and a unique multiple endoc

73 In two families with dominantly inherited disease and in 90 sporadic cases th

74 ause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degenerati

75 re linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal

76 n chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal m

77 Huntington disease (HD) is an autosomal dominantly inherited disease that exhibits genetic antic

78 Tuberous sclerosis complex (TSC) is a dominantly inherited disease that is characterized by th

79 s pigmentosa, especially among patients with dominantly inherited disease.

80 no preventive or curative therapies for this dominantly inherited disease.

81 NA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy

82 tically beneficial for the treatment of such dominantly inherited diseases.

83 plications for gene therapy of EBS and other dominantly inherited diseases.

84 otentially effective therapeutic measure for dominantly inherited diseases.

85 Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by bilateral

86 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized by cerebellu

87 Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder characterized by gastroint

88 ignant hyperthermia (MH) susceptibility is a dominantly inherited disorder in which volatile anesthet

89 Marfan syndrome (MFS) is a dominantly inherited disorder of connective tissue cause

90 ary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration

91 Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin prod

92 n adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare p

93 Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells o

94 , and four unrelated individuals with a rare dominantly inherited disorder, Freeman-Sheldon syndrome

95 ebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a path

96 the torsinA protein, is responsible for this dominantly inherited disorder, which is non-degenerative

97 n erythropoietin receptor (EPOR) result in a dominantly inherited disorder-primary familial congenita

98 ense mutations in human K17 give rise to two dominantly inherited disorders apparented to ectodermal

99 aster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR)

100 annayan-Riley-Ruvalcaba (BRR) syndromes, two dominantly inherited disorders characterized by mental r

101 familial cold autoinflammatory syndrome, two dominantly inherited disorders with some similarities to

102 have previously been found to cause the two dominantly inherited disorders, Best macular dystrophy a

103 y for treating inherited dementias and other dominantly inherited disorders.

104 or SNPs in extending the utility of siRNA in dominantly inherited disorders.

105 utant, not normal allele, could benefit many dominantly inherited disorders.

106 tified as the cause of one form of autosomal-dominantly inherited dystonia.

107 ino acid substitution mutations in tau cause dominantly inherited early onset dementia.

108 Mutations in torsinA cause dominantly inherited early-onset torsion dystonia in hum

109 Best vitelliform macular dystrophy is a dominantly inherited, early onset, macular degenerative

110 In 10 family members with dominantly inherited, early-onset osteoporosis, we ident

111 The autosomal dominantly inherited east Texas bleeding disorder is lin

112 Previously, we described subjects with dominantly inherited elevated basal serum tryptase level

113 to the yeast Saccharomyces cerevisiae, is a dominantly inherited, epigenetic modifier of phenotypes.

114 ecent advances is the elucidation of several dominantly inherited epilepsies caused by mutations of b

115 essed in vitro, and, when mutated, cause the dominantly inherited epileptic syndrome, benign neonatal

116 Cu/Zn superoxide dismutase (SOD1) gene cause dominantly inherited familial amyotrophic lateral sclero

117 Birt-Hogg-Dube (BHD) syndrome, is a dominantly inherited familial cancer syndrome associated

118 We studied a new kindred with autosomal dominantly inherited familial erythrocytosis.

119 iated protein B (VAPB; VAPBP56S) causes some dominantly inherited familial forms of motor neuron dise

120 tein-associated protein B (VAPB) causes some dominantly inherited familial forms of motor neuron dise

121 Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome compris

122 von Hippel-Lindau (VHL) disease is a dominantly inherited family cancer syndrome characterize

123 mans and a null mutation in mice result in a dominantly-inherited fatal cardiac arrhythmia initially

124 erited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist.

125 hat T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PM

126 s a culprit gene product for a monogenic and dominantly inherited form of diabetes, known as maturity

127 d to benign familial neonatal convulsions, a dominantly inherited form of generalized epilepsy.

128 eloped a genome-editing approach to target a dominantly inherited form of genetic deafness.

129 genes encoding four of these factors cause a dominantly inherited form of human diabetes called Matur

130 was well described and is responsible for a dominantly inherited form of human focal segmental glome

131 uman insulin receptor frequently result in a dominantly inherited form of insulin resistance.

132 White sponge nevus (WSN) is an autosomal-dominantly inherited form of mucosal leukokeratosis.

133 ameshift mutations of MC4R associated with a dominantly inherited form of obesity.

134 , and increased gene dosage causes a severe, dominantly inherited form of PD, but we know little abou

135 dentify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combine

136 enabled the dissection of several autosomal dominantly inherited forms of cerebrovascular disorders.

137 A lesson from dominantly inherited forms of diverse neurodegenerative

138 s in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that

139 Mutations in these genes usually lead to dominantly inherited forms of osteogenesis imperfecta (O

140 ons in the TARDBP gene encoding TDP-43 cause dominantly inherited forms of this condition.

141 s with neurodegenerative disease, especially dominantly inherited forms.

142 Linkage analysis demonstrates that dominantly inherited, fully penetrant VWD is present in

143 as identified in a small Italian family with dominantly inherited generalized epilepsy with febrile s

144 is type 1 (NF1) is one of the most prevalent dominantly inherited genetic diseases of the nervous sys

145 o 20% of apparently de novo cases of several dominantly inherited genetic diseases.

146 This dominantly inherited genetic trait is known as lactase p

147 me (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connecti

148 nd characterized to date are associated with dominantly inherited germ line mutations in the tumor su

149 Lynch syndrome is caused by dominantly inherited germline mutations that predispose

150 Familial prion diseases are due to dominantly inherited, germline mutations in the PRNP gen

151 Dominantly inherited GJB2 mutations, including the p.Gly

152 Dominantly inherited guanosine triphosphate (GTP)-cycloh

153 derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic

154 ele, suggesting COL11A1 as a locus for mild, dominantly inherited hearing loss.

155 d hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a

156 We identified 11 human pedigrees with dominantly inherited hemolytic anemias in both the hered

157 ty of cases result from de novo or autosomal dominantly inherited heterozygous mutations in ELA2, enc

158 Dominantly inherited heterozygous mutations were associa

159 autoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes.

160 on in a patient suffering from the autosomal dominantly inherited HSP variant SPG31.

161 es modifying thyroid tumor penetrance in the dominantly inherited human cancer syndrome.

162 Monoallelic TRPS1 mutations cause two dominantly inherited human developmental disorders of th

163 In contrast to the dominantly inherited human form of ACTN4-associated FSGS

164 Hand-foot-genital syndrome, a rare dominantly inherited human malformation syndrome charact

165 mann-Straussler-Scheinker (GSS) disease is a dominantly inherited, human prion disease caused by a mu

166 identify the genetic defect in a family with dominantly inherited hyperinsulinism affecting five indi

167 e identified a multigenerational family with dominantly inherited IBGC and, in 24 members of this fam

168 Epidermolytic hyperkeratosis is a dominantly inherited ichthyosis, frequently associated w

169 2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been re

170 encing was performed in a family affected by dominantly inherited inflammatory disease characterized

171 Mutations in ferroportin, however, result in dominantly inherited iron overload.

172 s study unveils the involvement of POU1F1 in dominantly inherited isolated GH deficiency and demonstr

173 Dominantly inherited isolated polycystic liver disease (

174 targardt-like macular dystrophy (STGD3) is a dominantly inherited juvenile macular degeneration that

175 Unlike recessive mutations, dominantly inherited KATP mutant subunits trafficked nor

176 characterized 16 families with 14 different dominantly inherited KATP mutations, including a total o

177 ruited a large French-Canadian family with a dominantly inherited late-onset painful sensory neuropat

178 We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease,

179 In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (S

180 el mutations are responsible for one form of dominantly inherited long QT syndrome (LQT).

181 , GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six proba

182 ancer occurs in the context of the autosomal dominantly inherited Lynch syndrome, which is due to mut

183 pedigree with 5 individuals affected with a dominantly inherited macrothrombocytopenia.

184 Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration characterized

185 Malattia leventinese (ML) is a dominantly inherited macular degenerative disease charac

186 itance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is c

187 would contribute in an important way to the dominantly inherited membrane depolarization, action pot

188 Several dominantly inherited missense mutations have been identi

189 ular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hs

190 order of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that en

191 uman autosomal dominant (AD) RP is caused by dominantly inherited missense mutations in the rhodopsin

192 cot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited motor and sensory neuropathy.

193 missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evide

194 Most cases of this dominantly inherited movement disorder are caused by del

195 Early onset (DYT1) torsion dystonia is a dominantly inherited movement disorder associated with a

196 One example is DYT1 dystonia, a dominantly inherited movement disorder characterized by

197 Most cases of the dominantly inherited movement disorder, early onset tors

198 Dominantly inherited multiple endocrine neoplasia type 2

199 a de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder

200 Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the

201 eature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familial cancer syndrom

202 Acrodysostosis is a dominantly-inherited, multisystem disorder characterized

203 nase gene was more difficult because DM is a dominantly inherited multisystemic disorder in which the

204 .643_663del21 deletion in CAPN3 results in a dominantly inherited muscle disease.

205 Here, we report the identification of a dominantly inherited mutation in the Gardos channel in 2

206 Dominantly inherited mutations cause less severe disease

207 Dominantly inherited mutations had prominent clinical va

208 Dominantly inherited mutations in ACTN4, which encodes a

209 Dominantly inherited mutations in alpha-synuclein cause

210 Dominantly inherited mutations in an endoplasmic reticul

211 Distinct dominantly inherited mutations in Cx31 cause the skin di

212 Dominantly inherited mutations in leucine-rich repeat ki

213 Dominantly inherited mutations in leucine-rich repeat ki

214 Dominantly inherited mutations in MAPT, the gene that en

215 Dominantly inherited mutations in the genes encoding pre

216 The mechanism by which dominantly inherited mutations in the housekeeping gene

217 Dominantly inherited mutations in the TRPM4 gene are ass

218 TRAPS is caused by dominantly inherited mutations in TNFRSF1A (formerly ter

219 Most cases are caused by dominantly inherited mutations or deletions of the PAX6

220 We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myop

221 he G/F domain of DNAJB6 are a novel cause of dominantly-inherited myopathy.

222 type in a large African American family with dominantly inherited nephropathy characterized by ESRD,

223 Huntington disease is a dominantly inherited neurodegenerative condition caused

224 n of survival in an animal model of a fatal, dominantly inherited neurodegenerative condition using R

225 Huntington's disease is a dominantly inherited neurodegenerative disease caused by

226 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by

227 llar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by

228 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by

229 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by

230 Huntington disease (HD) is a dominantly inherited neurodegenerative disease caused by

231 Nine dominantly inherited neurodegenerative diseases are caus

232 rebellar ataxia type 1 (SCA1) is one of nine dominantly inherited neurodegenerative diseases caused b

233 rebellar ataxia type 17 (SCA17), one of nine dominantly inherited neurodegenerative diseases caused b

234 Polyglutamine diseases are dominantly inherited neurodegenerative diseases caused b

235 In the case of dominantly inherited neurodegenerative diseases, gene su

236 nt pathological feature in diverse models of dominantly inherited neurodegenerative diseases.

237 Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases.

238 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

239 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

240 Huntington's disease (HD) is a fatal dominantly inherited neurodegenerative disorder caused b

241 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused b

242 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

243 r ataxia type 17 (SCA17) is a rare autosomal dominantly inherited neurodegenerative disorder presenti

244 hat an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocer

245 Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that is

246 Huntington's disease (HD) is an autosomal, dominantly inherited neurodegenerative disorder that is

247 Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that res

248 olyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative disorders caused

249 Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for whi

250 ually invoked to explain the pathogenesis of dominantly inherited neurodegenerative disorders.

251 ebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited, neurodegenerative disease caused b

252 Dystonia type 1 (DYT1) is a dominantly inherited neurological disease caused by muta

253 tential of siRNA for DYT1 dystonia and other dominantly inherited neurological diseases.

254 Some dominantly inherited neurological disorders are associat

255 isease mechanism has emerged from studies on dominantly inherited neurological disorders caused by un

256 Repeat expansions cause dominantly inherited neurological disorders.

257 Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disorder resulting fr

258 Mutations in GARS cause dominantly inherited neuropathies in humans.

259 ort on two affected members of a family with dominantly inherited neuropathy of both optic and audito

260 report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.

261 exome sequencing in four families exhibiting dominantly inherited otosclerosis to identify 23 candida

262 clein and LRRK2, two gene products linked to dominantly inherited Parkinson's disease.

263 s in 10 families, our study indicates that a dominantly inherited pattern of calpainopathy exists, an

264 proteins, which are encoded by two autosomal dominantly inherited PD-related genes.

265 mammalian protein conformation disorders and dominantly inherited phenotypes in yeast.

266 r degeneration, followed by the discovery of dominantly inherited point mutations in TDP-43 in famili

267 Dominantly inherited polyglutamine disorders are chronic

268 Dominantly inherited progressive hearing loss DFNA38 is

269 Huntington's disease (HD) is a dominantly inherited, progressive neurodegenerative dise

270 Huntington's disease (HD) is a dominantly inherited, progressive neurodegenerative diso

271 Genomic analysis of dominantly inherited, progressive sensorineural hearing

272 the approximately 10% of ALS cases that are dominantly inherited provide insight into ALS pathobiolo

273 r to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported

274 ited neonatal diabetes, craniosynostosis and dominantly inherited renal dysplasia using the Affymetri

275 esults in reduced expression of the gene, is dominantly inherited, segregates in families, and occurs

276 Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutati

277 tic histology similar to Darier's disease, a dominantly inherited skin condition characterized by wid

278 It causes a dominantly inherited skin disease, striate palmoplantar

279 To investigate the role of connexins in dominantly inherited skin disease, transgenic mice were

280 Darier's disease is an autosomal dominantly inherited skin disorder characterized by loss

281 Darier's disease is an autosomal dominantly inherited skin disorder, characterized by los

282 erved in genomic DNA from a kindred with the dominantly inherited skin disorder, striate palmoplantar

283 The dominantly inherited spinocerebellar ataxias (SCA) are a

284 d molecular processes to the pathogenesis of dominantly inherited spinocerebellar ataxias and the cur

285 the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneou

286 p97/VCP (valosin-containing protein) cause a dominantly inherited syndrome of inclusion body myopathy

287 Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema a

288 -onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS c

289 G2 and G3 progeny, consistent with a simple, dominantly inherited trait, but was never observed in no

290 ng causal mutations in nuclear families with dominantly inherited traits otherwise intractable by lin

291 ith associated cardiac failure and is due to dominantly inherited transthyretin mutations causing acc

292 mammals, and the human gene is implicated in dominantly inherited tricho-rhino-phalangeal (TRP) syndr

293 In neurofibromatosis type 2, a dominantly inherited tumor disease because of the loss o

294 tiple endocrine neoplasia type 1 (MEN1) is a dominantly inherited tumor syndrome that results from th

295 adically or in association with an autosomal dominantly inherited tumor syndrome, von Hippel-Lindau (

296 Neurofibromatosis type 2 (NF2), a dominantly inherited tumour disease, is also caused by l

297 amily of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia i

298 itary hemorrhagic telangiectasia 2 (HHT2), a dominantly inherited vascular disorder, and pulmonary hy

299 istence of at least one additional locus for dominantly inherited venous malformations.

300 ly from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized d