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 Autosomal dominant AD (ADAD) has an early symptomatic on

3 alterations in preclinical individuals with autosomal dominant AD (ADAD) have not yet been investiga

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

5 Autosomal-dominant AD is associated with increased WMH w

6 at cause haploinsufficiency account for many autosomal dominant (AD) disorders.

7 Autosomal-dominant adult-onset neuronal ceroid lipofusci

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

9 nce in AID-deficient patients, patients with autosomal dominant AID mutations (AD-AID), asymptomatic

10 Data from an autosomal dominant Alzheimer disease (ADAD) kindred were

11 rs are characterized in children at risk for autosomal dominant Alzheimer disease (ADAD).

12 causes beta-amyloid (Abeta) accumulation in autosomal dominant Alzheimer's disease (AD), but it is u

13 However, the effect of BDNF in autosomal dominant Alzheimer's disease is unknown.

14 hippocampal function, and tau in preclinical autosomal dominant Alzheimer's disease mutation carriers

15 31 mutation non-carriers and 143 preclinical autosomal dominant Alzheimer's disease mutation carriers

16 r this prospective cohort study, carriers of autosomal dominant Alzheimer's disease mutations (aged >

17 work, a study of persons with or at-risk for autosomal dominant Alzheimer's disease, were evaluated w

18 hree sequential phases in the development of autosomal dominant Alzheimer's disease-active amyloidosi

19 derate downstream effects of amyloid-beta in autosomal dominant Alzheimer's disease.

20 unction, tau and amyloid-beta in preclinical autosomal dominant Alzheimer's disease.

21 ations in presenilins are linked to familial autosomal dominant Alzheimer's disease.

22 tations in FZD4 and TSPAN12 were involved in autosomal dominant and autosomal recessive families and

23 taining apoptosis-associated protein] and is autosomal dominant and partially penetrant.

24 Cerebral autosomal dominant arteriopathy with subcortical infarct

25 Cerebral autosomal-dominant arteriopathy with subcortical infarct

26 and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance hav

27 neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patt

28 These tests include testing for autosomal dominant, autosomal recessive, and gene-dosage

29 reviously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in t

30 tions in 20 DNA-repair genes associated with autosomal dominant cancer-predisposition syndromes.

31 ation of 84 additional genes associated with autosomal-dominant cancer susceptibility identified LP o

32 ximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a

33 essed by neurons and microglia, are a common autosomal dominant cause of frontotemporal dementia, a n

34 Here we report a locus for autosomal dominant, clinically typical and Lewy body-con

35 th cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX

36 x30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mu

37 ith neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of opht

38 ith neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of opht

39 Bicuspid aortic valve (BAV) is considered an autosomal dominant condition, which is commonly associat

40 mbrane guanylyl cyclase 1 (RetGC1) linked to autosomal dominant cone-rod degeneration type 6 (CORD6)

41 We examined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by

42 Autosomal dominant congenital cataracts (ADCC) are clini

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

44 polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that

45 BP2 mutation was identified in a family with autosomal dominant CVID.

46 Here we investigated five autosomal dominant Cx26 mutants (N14K, D50N, N54K, M163V

47 tation in a South African family with severe autosomal dominant DCM.

48 In families with autosomal-dominant DCM, heterozygous missense mutations

49 Autosomal dominant deafness accounts for approximately 2

50 tivated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis

51 A common form of hereditary autosomal dominant demyelinating neuropathy known as Cha

52 gies under development include approaches to autosomal dominant disease ("gain of function"), attempt

53 r 67.8% (61 of 90) of pathogenic variants in autosomal dominant disease genes and 51.7% (15 of 29) of

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

55 of valosin-containing protein (VCP) cause an autosomal dominant disease known as inclusion body myopa

56 ne Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2.

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

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 Our results suggest that autosomal dominant disease-causing mutations could be pr

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

62 aroxysmal choreoathetosis (ICCA)-are related autosomal dominant diseases.

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 pithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative

66 Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutatio

67 also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency

68 Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the

69 Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and

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

71 hyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by occurrence

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

73 s familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atheros

74 Tuberous sclerosis (TS) is a multi-organ autosomal dominant disorder that is best characterized b

75 Cowden syndrome (CS) is an autosomal dominant disorder that predisposes to breast,

76 rathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder.

77 rsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-

78 iodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset

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

80 due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalize

81 A number of autosomal dominant disorders show a dramatic paternal ag

82 fected members in a Taiwanese family with an autosomal dominant distal hereditary motor neuropathy in

83 dings contrast with our previous findings in autosomal dominant distal hereditary motor neuropathy of

84 CMT1A is a common autosomal dominant distal symmetric peripheral polyneuro

85 autosomal recessive dystrophic EB, and 22.9% autosomal dominant dystrophic EB.

86 have previously been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (ED

87 Autosomal dominant epilepsy with auditory features resul

88 We previously described a family with an autosomal dominant epithelial recurrent erosion dystroph

89 autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A1 as a key

90 Autosomal dominant familial Alzheimer's disease (ADAD) i

91 with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD).

92 protein alpha-actinin-4, are a rare cause of autosomal dominant familial focal segmental glomeruloscl

93 ch repeat kinase 2 (LRRK2) cause late-onset, autosomal dominant familial Parkinson's disease (PD) and

94 nd mutations in LRRK2 are the major cause of autosomal-dominant familial PD.

95 t telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis.

96 ological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturba

97 DDS is inherited in an autosomal dominant fashion, implying a gain of function

98 MME mutations segregated in an autosomal-dominant fashion with age-related incomplete p

99 Spinocerebellar ataxia type 1 is an autosomal dominant fatal neurodegenerative disease cause

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

101 The autosomal dominant form of Alzheimer's disease (ADAD) is

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

103 in the transcription factor IKAROS caused an autosomal dominant form of CVID that is associated with

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

105 F23 (FGF23R176Q) that is associated with the autosomal dominant form of hypophosphatemic rickets.

106 rate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with

107 ts negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygo

108 We identified a kindred with an autosomal-dominant form of CAKUT with predominant ureter

109 y conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid fea

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

111 ong corticospinal axons, and the most common autosomal dominant forms are caused by mutations in gene

112 myloid precursor protein are responsible for autosomal dominant forms of Alzheimer's disease.

113 isease and possibly support the diagnosis of autosomal-dominant FTD.

114 MCRPE is an autosomal dominant, fully penetrant retinal dystrophy wi

115 sequencing in individuals from a family with autosomal dominant gastropathy resembling Menetrier dise

116 ein-recycling retromer complex, is the third autosomal-dominant gene associated with PD.

117 n-Gilford progeria syndrome (HGPS) is a rare autosomal dominant genetic disease that is caused by a s

118 gnosed with ALS or FTD are known to carry an autosomal dominant genetic mutation.

119 third of patients, the disease is caused by autosomal dominant genetic mutations usually in one of t

120 Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyop

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

122 ereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by pri

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

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

125 K8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and

126 notypic overlap between DOCK8 deficiency and autosomal dominant HIES.

127 This study expands the genetics of autosomal dominant HSP and is the first, to our knowledg

128 protein, seipin, that is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome).

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

130 ng is a promising therapy for the monogenic, autosomal dominant, Huntington's disease (HD).

131 Autosomal dominant hyper-IgE syndrome (AD-HIES) is cause

132 ivator of transcription 3 (STAT3) mutations (autosomal dominant hyper-IgE syndrome [AD-HIES]) are par

133 calcium-sensing receptor from patients with autosomal dominant hypocalcemia (ADH) repressed the tran

134 ypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2), respectiv

135 In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocal

136 ssive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a

137 geneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood.

138 Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutatio

139 Diseases with autosomal dominant inheritance often show pleiotropy, di

140 view of BAV as a condition with an entirely autosomal dominant inheritance pattern and emphasize the

141 MP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS.

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

143 disorder with around a third of cases having autosomal dominant inheritance.

144 receptor 2 dysregulation, which explains the autosomal dominant inheritance.

145 De novo occurrence and autosomal-dominant inheritance of variants, including pa

146 s and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been descri

147 Familial eosinophilia (FE) is a rare autosomal dominant inherited disorder characterized by t

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

149 Here, we have identified an autosomal dominant, inherited form of lymphatic-related

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

151 g-prone alpha1(A322D) subunits, which causes autosomal dominant juvenile myoclonic epilepsy.

152 In patients with KS, autosomal dominant KMT2D mutations are associated with d

153 Mutations in VPS35 (PARK17) cause autosomal dominant, late onset Parkinson's disease (PD).

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

155 encoding a neuronal secreted protein, cause autosomal dominant lateral temporal lobe epilepsy (ADLTE

156 affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardio

157 sly shown that LMNB1 gene duplications cause autosomal dominant leukodystrophy (ADLD), a fatal adult

158 (LMNB1) gene has been linked to adult-onset autosomal dominant leukodystrophy, and mouse and human l

159 TD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D.

160 s, the phenotype seems to be inherited in an autosomal dominant manner, but a causative gene is yet t

161 with ODDD, most of which are inherited in an autosomal dominant manner.

162 a family originating from Martinique with an autosomal dominant MCRPE were examined.

163 ng 1 proband from the first reported pontine autosomal dominant microangiopathy with leukoencephalopa

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

165 riant was found in three families showing an autosomal dominant mode of inheritance.

166 these mutations with relapse and revealed an autosomal dominant mode of transmission.

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

168 he Notch ligand JAG1 in humans results in an autosomal-dominant, multisystem disorder known as Alagil

169 f MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a

170 demonstrate a pathogenic role of de novo and autosomal dominant mutations in GNB1 as a cause of GDD a

171 ions in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and ac

172 In conclusion, autosomal dominant mutations in SRP54, a key member of t

173 Autosomal dominant mutations in STING are thought to tri

174 nt and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype

175 t-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimul

176 Numerous autosomal dominant mutations in the Cx26-encoding GJB2 g

177 leads to cardiac failure and death, whereas autosomal dominant mutations in vinculin can also provok

178 Because heritable autosomal dominant mutations of NLRP3, APP, TREX1, NOTCH

179 To date, autosomal-dominant mutations have been described in the

180 Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL h

181 s linked to the inherited blinding disorder, autosomal dominant neovascular inflammatory vitreoretino

182 Huntington's disease is an autosomal dominant neurodegenerative disease caused by a

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

184 Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by

185 Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characteri

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

187 Spinocerebellar ataxia type 13 is a rare autosomal-dominant neurodegenerative disease induced by

188 Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by

189 Huntington disease (HD) is a fatal autosomal dominant, neurodegenerative condition characte

190 Huntington disease (HD) is an inherited, autosomal dominant, neurodegenerative disorder with limi

191 apulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is charac

192 ently in two branches of a large family with autosomal dominant non-syndromic coloboma.

193 different actin isoforms lead to early-onset autosomal dominant non-syndromic hearing loss, familial

194 Given that most autosomal-dominant non-syndromic hearing loss in humans

195 A three-generation Chinese family with autosomal dominant nonsyndromic hearing impairment (ADNS

196 toplasmic actin have been shown to result in autosomal-dominant, nonsyndromic, early-onset deafness.

197 Autosomal dominant North Carolina macular dystrophy (NCM

198 und in 4 of 20 unrelated patients (20%) with autosomal dominant OA.

199 ZLED2 mutation is a de novo, novel cause for autosomal dominant omodysplasia.

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

201 Inheritance is either autosomal dominant or autosomal recessive.

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

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

204 6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder.

205 studied 24 multiplex families segregating an autosomal dominant p.S358L mutation in TMEM43.

206 repeat kinase 2 (LRRK2) lead to late-onset, autosomal dominant Parkinson's disease, characterized by

207 n leucine-rich repeat kinase 2 (LRRK2) cause autosomal-dominant Parkinsonism with pleomorphic patholo

208 , even in a single pedigree with an apparent autosomal dominant pattern of inheritance.

209 y underlie disease and are transmitted in an autosomal dominant pattern with variable expressivity.

210 VPS35 mutations cause autosomal dominant PD and we recently demonstrated that

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

212 rspectives for the use of mTOR inhibitors in autosomal dominant PKD caused by hypomorphic or missense

213 Autosomal-dominant PLD (ADPLD) with no or very few renal

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

215 Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are

216 ancreatic cysts in a cohort of patients with autosomal dominant polycystic kidney disease (ADPKD) com

217 Autosomal dominant polycystic kidney disease (ADPKD) con

218 Autosomal dominant polycystic kidney disease (ADPKD) is

219 Autosomal dominant polycystic kidney disease (ADPKD) is

220 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 Autosomal dominant polycystic kidney disease (ADPKD) oft

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

231 Novel therapies in autosomal dominant polycystic kidney disease (ADPKD) sig

232 Patients with autosomal dominant polycystic kidney disease (ADPKD) typ

233 The course of autosomal dominant polycystic kidney disease (ADPKD) var

234 Dysregulation of polycystin-1 (PC1) leads to autosomal dominant polycystic kidney disease (ADPKD), a

235 Autosomal dominant polycystic kidney disease (ADPKD), ch

236 In autosomal dominant polycystic kidney disease (ADPKD), cy

237 merulonephritis and compared with those with autosomal dominant polycystic kidney disease (ADPKD), in

238 Autosomal dominant polycystic kidney disease (ADPKD), on

239 c Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant polycystic kidney disease (ADPKD), on

240 or almost all clinically identified cases of autosomal dominant polycystic kidney disease (ADPKD), on

241 Mutations in polycystin-2 (PC2) lead to autosomal dominant polycystic kidney disease (ADPKD).

242 he progressive enlargement of renal cysts in autosomal dominant polycystic kidney disease (ADPKD).

243 elopment of hypertension and cystogenesis in autosomal dominant polycystic kidney disease (ADPKD).

244 disease is a well described manifestation of autosomal dominant polycystic kidney disease (ADPKD).

245 f Src has been linked to the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD).

246 previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; est

247 sial in patients with refractory symptoms of autosomal dominant polycystic kidney disease (APKD) in n

248 Autosomal dominant polycystic kidney disease is caused b

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

250 Mutations in polycystin-1 (PC1) give rise to autosomal dominant polycystic kidney disease, an importa

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

252 ients referred with a suspected diagnosis of autosomal dominant polycystic kidney disease, medullary

253 Furthermore, autosomal dominant polycystic kidney disease-associated

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

255 , between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a

256 es (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), wh

257 Autosomal-dominant polycystic kidney disease (ADPKD) is

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

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

260 Missense mutations in the Ant1 isoform cause autosomal dominant progressive external ophthalmoplegia

261 rozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia

262 l dystrophy/malattia Leventinese (DHRD), and autosomal dominant radial drusen (ADRD), and demonstrate

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

264 iant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and descri

265 study: Group 1 was composed of IRD two with autosomal dominant retinitis pigmentosa (RP), two with a

266 alence of 2% in families diagnosed as having autosomal dominant retinitis pigmentosa and 10% in famil

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

268 recessive RP progressing at 148 mum/year and autosomal dominant RP progressing at 91 mum/year (P = .0

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

270 fied as a potentially causative mutation for autosomal dominant RP.

271 Autosomal-dominant SCN1B-C121W, the first epilepsy-assoc

272 ate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for em

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

274 acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformat

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

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

277 To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a sy

278 The autosomal dominant spinocerebellar ataxias (SCAs) are ca

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

280 ciation with the Carney Complex, which is an autosomal dominant syndrome associated with benign tumou

281 diaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-

282 CHARGE, an autosomal dominant syndrome, is known to affect multiple

283 ism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic

284 ion of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spe

285 Thrombocytopenia 4 is an inherited autosomal dominant thrombocytopenia, which occurs due to

286 The disorder, which is inherited as an autosomal dominant trait, is caused by heterozygous muta

287 d growth hormone deficiency segregates as an autosomal dominant trait.

288 kindreds in which AOS was segregating as an autosomal dominant trait.

289 that this type of HAE was transmitted as an autosomal dominant trait.

290 th HAE-FXII and HAE-unknown are inherited as autosomal-dominant traits with incomplete penetrance.

291 gregated with evidence of muscle disease and autosomal dominant transmission in several generations.

292 Autosomal-dominant tubulo-interstitial kidney disease (A

293 are mutations in UMOD are the major cause of autosomal dominant tubulointerstitial kidney disease, a

294 encoding Mucin-1 (MUC1) were found to cause autosomal dominant tubulointerstitial kidney disease, th

295 ernal malignancies have been described in an autosomal dominant tumor predisposition syndrome.

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

297 Patients with autosomal dominant vibratory urticaria have localized hi

298 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is

299 Our findings provide the identification of autosomal-dominant WNT10B mutations in individuals with

300 group with hearing loss were diagnosed with autosomal dominant Wolfram-like syndrome (adWLS).