ライフサイエンスコーパス: autosomal dominant

1 mechanism of inheritance was concluded to be autosomal dominant.

2 approach, we first explored in subjects with autosomal dominant AD (ADAD) from the Dominantly Inherit

3 f this 25-kDa CTF is higher in subjects with autosomal dominant AD linked to PSEN1 mutations, in deme

4 n the preclinical phase of both sporadic and autosomal dominant AD, multiple behavioral features were

5 occurring early in presymptomatic AD and in autosomal dominant AD.

6 (April 2017-September 2019); and a Colombian autosomal-dominant AD kindred (cohort 3), including 365

7 one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative var

8 GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-ro

9 pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, wer

10 The rate of disease progression in autosomal-dominant (AD) polycystic kidney disease (PKD)

11 he co- chaperone protein, CSPalpha, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis

12 We identified 2 families segregating autosomal dominant AI with variable degrees of a distinc

13 opathic Parkinson's disease, carriers of the autosomal dominant Ala53Thr (A53T; 209G->A) point mutati

14 the findings to PiB-PET and CSF Abeta in 37 autosomal dominant Alzheimer disease (ADAD) mutation car

15 The similarities with sporadic and autosomal dominant Alzheimer's disease and the prevalenc

16 ing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOA

17 sition of amyloid-beta in the basal ganglia, autosomal dominant Alzheimer's disease could distinctly

18 nset tied to the specific mutations found in autosomal dominant Alzheimer's disease families provides

19 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did

20 age-matched non-carriers from the Colombian autosomal dominant Alzheimer's disease kindred.

21 tively asymptomatic members of families with autosomal dominant Alzheimer's disease, dysdiadochokines

22 e proven as a clinically relevant finding in autosomal dominant Alzheimer's disease, in particular in

23 alence and characteristics of motor signs in autosomal dominant Alzheimer's disease.

24 In the paediatric CMT2A population (autosomal dominant and autosomal recessive CMT2A grouped

25 Here, we report 13 families (12 autosomal dominant and one autosomal recessive) with an

26 structures in amyloid plaques of cases with autosomal dominant and sporadic AD.

27 Mutations in LRRK2 cause autosomal dominant and sporadic Parkinson's disease, but

28 Cerebral autosomal dominant arteriopathy with subcortical infarct

29 The small-vessel disorder cerebral autosomal dominant arteriopathy with subcortical infarct

30 Cerebral autosomal dominant arteriopathy with subcortical infarct

31 Cerebral autosomal-dominant arteriopathy with subcortical infarct

32 Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder with a unique, plat

33 reditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised

34 nd whole-genome sequencing, we identified an autosomal-dominant cause of a distinct motile ciliopathy

35 Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease ty

36 achado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia.

37 MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z a

38 year, the CMTESv2 increases significantly in autosomal dominant CMT2A (mean change 0.84 +/- 2.42; two

39 A childhood onset of autosomal dominant CMT2A is the most predictive marker o

40 When compared to adult onset autosomal dominant CMT2A, it is associated with signific

41 Inherited prion diseases are caused by autosomal dominant coding mutations in the human prion p

42 NG, ACVRL1, or SMAD4, and is inherited as an autosomal-dominant condition.

43 Three inherited autosomal dominant conditions-BRCA-related hereditary br

44 exception of p.A352_P355del associated with autosomal dominant cone-rod dystrophy.

45 n three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited fa

46 Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by

47 Yet, compared to autosomal dominant de novo mutations, which are the pred

48 F variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17

49 ay cause dentinogenesis imperfecta (DGI), an autosomal dominant dentin disorder.

50 These findings link SLC19A2 mutations to autosomal dominant diabetes and suggest a role of SLC19A

51 dystrophy (OPMD) is a late-onset, primarily autosomal dominant disease caused by a short GCN expansi

52 ogg-Dube syndrome (BHDS) is a rare, genetic, autosomal dominant disease caused by mutation in a folli

53 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by multiorgan h

54 Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent ed

55 A major cause of autosomal dominant disease is haploinsufficiency, whereb

56 used TGFBI corneal dystrophies as a model of autosomal dominant disease to assess the use of CRISPR/C

57 Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presen

58 lecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked

59 pulmonary arterial hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is onl

60 n evaluating de novo mutations in studies of autosomal dominant disease.

61 pair offers a potential treatment option for autosomal dominant disease.

62 cal discipline need to be made aware of this autosomal-dominant disease.

63 domains of transcription factors can lead to autosomal dominant diseases.

64 Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature ca

65 Despite being an autosomal dominant disorder caused by a known coding mut

66 most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a

67 ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital

68 Gorlin syndrome (GS) is an autosomal dominant disorder wherein affected individuals

69 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose neurodevelopmental sym

70 syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex n

71 Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder characterized by the develop

72 Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associa

73 hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in

74 Hereditary pancreatitis (HP) is a heritable, autosomal-dominant disorder with recurrent acute pancrea

75 l British and Danish dementia (FBD and FDD), autosomal dominant disorders characterized by progressiv

76 m Spain and 1 from Sweden) suffering from an autosomal dominant distal myopathy.

77 Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss-of-function m

78 y [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predic

79 Autosomal dominant effects impact stem cell properties a

80 Autosomal dominant epilepsy with auditory features resul

81 Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor an

82 VPS35) gene represent a cause of late-onset, autosomal dominant familial Parkinson's disease (PD).

83 K2) are the most common cause of late-onset, autosomal-dominant familial Parkinson's disease (PD).

84 RUNX1 mutations result in the well-described autosomal-dominant familial platelet disorder with predi

85 s were found in 18 autosomal recessive and 4 autosomal dominant families.

86 betes and mild TRMA traits transmitted in an autosomal dominant fashion.

87 n mutations in the human TRPC6 channel cause autosomal-dominant focal segmental glomerulosclerosis, b

88 ) loss-of-function mutations, while the main autosomal dominant form is due to dynamin2 (DNM2) mutati

89 We identified a kindred with an autosomal dominant form of CAKUT.

90 possible role for calcium signalling in the autosomal dominant form of dementia, familial encephalop

91 g domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomeruloscle

92 gions of human STAT3 underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES).

93 Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due

94 dystrophy type 1 (FSHD-1) is the most common autosomal dominant form of muscular dystrophy with a pre

95 monovalent cation channel, as a cause of an autosomal dominant form of progressive symmetric erythro

96 TB4 cause stiff skin syndrome (SSS), a rare autosomal dominant form of scleroderma.

97 chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charco

98 sequencing in a large family affected by an autosomal-dominant form of mild syndromic ID with ptosis

99 , nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are

100 , including progranulin (GRN), are causes of autosomal-dominant forms of human neurodegenerative dise

101 roteins, are among the most common causes of autosomal dominant FSGS.

102 sorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC che

103 Autosomal dominant gain-of-function mutations in human s

104 In humans, autosomal dominant GATA3 mutations can cause renal aplas

105 Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegi

106 Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder that manifests with

107 findings suggest that p.Asp395Gly VCP is an autosomal-dominant genetic mutation associated with neur

108 NM or familial mutation [FM]) of deleterious autosomal dominant germline mutations for any syndrome.

109 /genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations

110 s with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected indi

111 strategy for the treatment of some types of autosomal-dominant hearing loss.

112 Granular corneal dystrophy (GCD) is an autosomal dominant hereditary disease in which multiple

113 ons in WASHC5 (also known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) t

114 from two unrelated Chinese families with an autosomal dominant hereditary spastic paraplegia and lac

115 from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and la

116 rine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by

117 Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnor

118 e encoding microRNA-140 (miR-140) in a novel autosomal dominant human skeletal dysplasia.

119 Autosomal dominant hyper-IgE syndrome (AD-HIES) is typic

120 Autosomal-dominant hyper-IgE syndrome (AD-HIES, also kno

121 Autosomal dominant hypertension with brachydactyly clini

122 hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectiv

123 Autosomal dominant hypocalcified amelogenesis imperfecta

124 scription factor, in a Caucasian family with autosomal dominant hypoplastic AI.

125 related, ethnically diverse individuals with autosomal-dominant IFAP syndrome.

126 ematically characterize a large panel of >50 autosomal dominant INF2 mutants that have been reported

127 e in a large European Australian family with autosomal dominant inheritance of frontotemporal dementi

128 (HalphaT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPS

129 However, there are families with apparent autosomal dominant inheritance of PDS in which the risk

130 riginally reported over 50 years ago with an autosomal dominant inheritance pattern of chronic pancre

131 BAV/AscAA shows autosomal dominant inheritance with incomplete penetranc

132 otypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of a

133 any of these diseases occur as the result of autosomal dominant inheritance, suggesting that WT and m

134 s CEP85L variants, including 2 families with autosomal dominant inheritance.

135 lls, headache and malaise associated with an autosomal-dominant inheritance.

136 Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited disorder caused by expansio

137 the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be t

138 ations in the lamin A/C gene (LMNA) cause an autosomal dominant inherited form of dilated cardiomyopa

139 Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder,

140 ecently defined gene that is associated with autosomal dominant inherited tooth agenesis.

141 ic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caus

142 Episodic ataxia is an autosomal dominant ion channel disorder characterized by

143 As most BEST1 mutations are autosomal dominant, it is of great biomedical interest t

144 aryngeal muscular dystrophy (OPMD) is a rare autosomal dominant late-onset muscular dystrophy affecti

145 lopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder character

146 easing LMNB1 expression, are associated with autosomal-dominant leukodystrophy.

147 th spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutatio

148 rited cardiac conditions are inherited in an autosomal dominant manner meaning that surviving family

149 coma (PG) are presumed to be inherited in an autosomal dominant manner.

150 f recurrent fevers and lymphadenopathy in an autosomal-dominant manner.

151 Neurofibromatosis type 2 (NF2) is an autosomal dominant Mendelian tumor predisposition disord

152 entified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndro

153 e growing list of genes implicated in severe autosomal-dominant microcephaly and broadens the phenoty

154 in three ethnically diverse families with an autosomal dominant mode of inheritance.

155 We investigated the etiology of autosomal-dominant, mucocutaneous ulceration in a family

156 p.Glu396Lys), in a large Chinese family with autosomal dominant multiple pilomatricomas.

157 ease of bone and frontotemporal dementia, an autosomal dominant multisystem proteinopathy that includ

158 gammaHV68 in heterozygous mice that have an autosomal dominant mutation in the STAT1 coiled-coil dom

159 Autosomal dominant mutations in STING are thought to tri

160 h B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B.

161 Here, we identify autosomal dominant mutations of the canonical Notch liga

162 cells-derived neurons from PD patients with autosomal dominant mutations, A53T and SNCA-triplication

163 diseases caused by heterozygous mutations or autosomal dominant mutations.

164 apulohumeral muscular dystrophy (FSHD) is an autosomal-dominant myopathy characterized by slowly prog

165 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused by C

166 Huntington's disease is an autosomal dominant neurodegenerative disorder associated

167 ntington's disease (HD) is a fatal inherited autosomal dominant neurodegenerative disorder caused by

168 Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characteri

169 Huntington's disease is an autosomal-dominant neurodegenerative disease caused by C

170 ocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by m

171 Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurodevelopmental disorder character

172 sufficiency of the KCNN2 gene, lead to novel autosomal dominant neurodevelopmental movement disorders

173 enzyme are implicated in the etiology of an autosomal dominant neurological disease in which patient

174 familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most fre

175 The autosomal dominant neuronal ceroid lipofuscinoses (NCL)

176 nish probands and one Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL).

177 ses (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88%

178 sues, as well as genes associated with known autosomal dominant OFC syndromes.

179 ber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mu

180 Autosomal dominant optic atrophy (ADOA) starts in early

181 In autosomal dominant optic atrophy (ADOA), caused by mutat

182 Inheritance is either autosomal dominant or autosomal recessive.

183 Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autoso

184 disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appea

185 6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder.

186 in D domain of PSAP from three families with autosomal dominant Parkinson's disease.

187 unrelated Parkinson's disease probands with autosomal-dominant Parkinson's disease and 1934 patients

188 sease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson's disease cohort (10 of 242

189 n's disease, 242 probands from families with autosomal-dominant Parkinson's disease, and 1242 sEOPD p

190 embers of the index family with a late-onset autosomal-dominant parkinsonism and polyneuropathy.

191 Multiple trichilemmal cysts present in an autosomal dominant pattern of inheritance, yet the genet

192 Although familial PAH most often has an autosomal-dominant pattern of inheritance, cases of inco

193 5 [p.R215I] in ADAM17 co-segregating with an autosomal-dominant pattern of late-onset AD in one famil

194 p.Leu523Pro) KIF3B variant segregating in an autosomal-dominant pattern.

195 ffects of the E46K mutation (associated with autosomal dominant PD) through homologous Glu-to-Lys sub

196 haS gene (SNCA) mutations can directly cause autosomal dominant PD.

197 The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic

198 investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial a

199 Using tissue samples from patients with autosomal dominant PKD, embryonic kidney cultures, and a

200 DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition dis

201 Autosomal dominant polycystic kidney disease (ADPKD) aff

202 Background Autosomal dominant polycystic kidney disease (ADPKD) aff

203 PKD2 mutations cause Autosomal Dominant Polycystic Kidney Disease (ADPKD) and

204 comparator groups, and comparing with IgAN, autosomal dominant polycystic kidney disease (ADPKD) and

205 olycystin proteins, PC-1 and PC-2, result in autosomal dominant polycystic kidney disease (ADPKD) and

206 essive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are

207 polycystin proteins and the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) are

208 idney volume (TKV) assessment is valuable in autosomal dominant polycystic kidney disease (ADPKD) but

209 r of the underpinning molecular pathology of autosomal dominant polycystic kidney disease (ADPKD) by

210 It is unknown whether early diagnosis of autosomal dominant polycystic kidney disease (ADPKD) can

211 wth of cysts in kidneys, and often liver, in autosomal dominant polycystic kidney disease (ADPKD) cau

212 Autosomal dominant polycystic kidney disease (ADPKD) con

213 Autosomal dominant polycystic kidney disease (ADPKD) con

214 Patients with autosomal dominant polycystic kidney disease (ADPKD) exp

215 YST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) fro

216 Autosomal dominant polycystic kidney disease (ADPKD) is

217 Autosomal dominant polycystic kidney disease (ADPKD) is

218 Autosomal dominant polycystic kidney disease (ADPKD) is

219 Autosomal dominant polycystic kidney disease (ADPKD) is

220 Human autosomal dominant polycystic kidney disease (ADPKD) is

221 Autosomal dominant polycystic kidney disease (ADPKD) is

222 Autosomal dominant polycystic kidney disease (ADPKD) is

223 Autosomal dominant polycystic kidney disease (ADPKD) is

224 Autosomal dominant polycystic kidney disease (ADPKD) is

225 Autosomal dominant polycystic kidney disease (ADPKD) is

226 Autosomal dominant polycystic kidney disease (ADPKD) is

227 Autosomal dominant polycystic kidney disease (ADPKD) is

228 Autosomal dominant polycystic kidney disease (ADPKD) is

229 ty with disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD) rem

230 The Mayo Clinic imaging classification of autosomal dominant polycystic kidney disease (ADPKD) use

231 tion of the gene encoding for PC2 results in autosomal dominant polycystic kidney disease (ADPKD), a

232 mutations in PC2 lead to the development of autosomal dominant polycystic kidney disease (ADPKD), a

233 Autosomal dominant polycystic kidney disease (ADPKD), ca

234 PKD1 or PKD2, the two main causal genes for autosomal dominant polycystic kidney disease (ADPKD), en

235 Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), th

236 of the most common human genetic diseases is autosomal dominant polycystic kidney disease (ADPKD), wh

237 occurs before renal function deteriorates in autosomal dominant polycystic kidney disease (ADPKD).

238 oteins polycystin 1 or polycystin 2 leads to autosomal dominant polycystic kidney disease (ADPKD).

239 s a major cause of loss of renal function in autosomal dominant polycystic kidney disease (ADPKD).

240 l are responsible for many clinical cases of autosomal dominant polycystic kidney disease (ADPKD).

241 Mutations in the polycystins cause autosomal dominant polycystic kidney disease (ADPKD).

242 the most common extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).

243 stin-1 and polycystin-2, respectively, cause autosomal dominant polycystic kidney disease (ADPKD).

244 cessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]).

245 some of the cardiovascular manifestations of autosomal dominant polycystic kidney disease derive dire

246 eurysms with MR angiography in patients with autosomal dominant polycystic kidney disease is cost-eff

247 Autosomal dominant polycystic kidney disease patients de

248 an with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referre

249 ansmembrane protein originally identified in autosomal dominant polycystic kidney disease where it re

250 more common monogenic kidney diseases after autosomal dominant polycystic kidney disease, accounting

251 ytopathy, diabetic nephropathy, albuminuria, autosomal dominant polycystic kidney disease, and ischem

252 Mutations in the channel protein PKD2 cause autosomal dominant polycystic kidney disease, but the fu

253 nd pathologically identical to those seen in autosomal dominant polycystic kidney disease, but withou

254 oded by the PKD1 gene that is mutated in the autosomal dominant polycystic kidney disease, regulates

255 C9B2) was observed in cysts of patients with autosomal dominant polycystic kidney disease.

256 enlargement in experimental mouse models of autosomal dominant polycystic kidney disease.

257 affects Hh signal transduction in a model of autosomal dominant polycystic kidney disease.

258 gy, with mutations in either protein causing autosomal dominant polycystic kidney disease.

259 um membrane that, when mutated, causes human autosomal dominant polycystic liver disease.

260 Autosomal-dominant polycystic kidney disease (ADPKD) ind

261 Patients with diabetic nephropathy (DN) and autosomal-dominant polycystic kidney disease (ADPKD) ser

262 of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease.

263 The autosomal dominant presentation of trichilemmal cysts is

264 ve progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.

265 s of six European families suffering from an autosomal dominant progressive myopathy with highly char

266 nc-knuckle containing protein, as a cause of autosomal dominant pulmonary fibrosis.

267 onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by e

268 sed by the P23H mutation is a major cause of autosomal dominant retinitis pigmentosa (adRP).

269 31, a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP).

270 mutation and misfolding is a common cause of autosomal dominant retinitis pigmentosa (RP).

271 The cause of autosomal-dominant retinitis pigmentosa (adRP), which le

272 However, approximately 70% of autosomal-dominant Robinow syndrome cases remain molecul

273 Patients with autosomal dominant RP (adRP) had the highest proportion

274 ease progression was found to be slowest for autosomal dominant RP and fastest for X-linked RP, with

275 otoreceptor inner segments (ISs), and causes autosomal dominant RP.

276 utation of RPE65 identified in patients with autosomal dominant RP.

277 307N Rho mouse is a light-inducible model of autosomal dominant RP.

278 Autosomal-dominant Schnyder corneal dystrophy (SCD) is c

279 ctrum of SEC61A1-mediated disease to include autosomal dominant SCN.

280 , p.Arg918Gln (c.2753G > A), of NLRP3 causes autosomal-dominant sensorineural hearing loss in two unr

281 e in a large 3-generation family (n=25) with autosomal dominant sinus node dysfunction (SND) and atri

282 Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurr

283 dence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia.

284 ranscription factor FOXP2 in humans cause an autosomal-dominant speech and language disorder.

285 Autosomal dominant STAT1 mutations in humans have been a

286 Our data suggest autosomal dominant STAT4 deficiency as a novel inborn er

287 Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that causes tumor formation

288 ased, and in vivo modeling data delineate an autosomal-dominant syndromic retinal ciliopathy in human

289 men in families in a manner that suggests an autosomal dominant trait and usually manifests clinicall

290 y recognised), while others are inherited as autosomal dominant trait.

291 indicates a central role for Sp1 in causing autosomal dominant transmission of BMF, thereby confirmi

292 d two unrelated pedigrees in which there was autosomal dominant transmission of multiple dermatofibro

293 Autosomal dominant tubulointerstitial kidney disease (AD

294 Autosomal dominant tubulointerstitial kidney diseases (A

295 Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome, characteri

296 icate that familial trichilemmal cysts is an autosomal dominant tumor syndrome resulting from two hit

297 Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene syndrome caused

298 and lymphatic vascular lesions in the human autosomal dominant vascular disorder capillary malformat

299 Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disorder caused by heterozyg

300 itary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia.