ライフサイエンスコーパス: hereditary

1 Many are diagnosed with hereditary alpha-tryptasemia (HalphaT), a genetic trait

2 Hereditary alpha-tryptasemia (HalphaT)-a genetic trait c

3 turn cause some of the clinical features of hereditary alpha-tryptasemia and of other disorders invo

4 The monogenic disorder called hereditary alpha-tryptasemia, due to increased alpha-try

5 bulin (beta(2)m) is the causative agent of a hereditary amyloid disease.

6 all subset of PDACs develop in patients with hereditary and familial predisposition.

7 ces in Vbeta-Jbeta gene family usage between hereditary and idiopathic CP and a positive correlation

8 Immunophenotyping analyses in hereditary and idiopathic CP pancreases indicate differe

9 donors and CP patients including those with hereditary and idiopathic CP undergoing total pancreatec

10 eposition of aggregated transthyretin causes hereditary and sporadic amyloidoses.

11 r the inactivation of the BRCA1 gene in both hereditary and sporadic breast cancers, and other BRCA1-

12 devastating effects and incurable nature of hereditary and sporadic retinal diseases such as Stargar

13 mediator-induced), ACE-inhibitor intake and hereditary angioedema (both bradykinin-mediated).

14 adelumab demonstrated efficacy in preventing hereditary angioedema (HAE) attacks in the phase 3 HELP

15 ikrein in development for the prophylaxis of hereditary angioedema (HAE) attacks.

16 Hereditary angioedema (HAE) comprises HAE with C1-inhibi

17 Patients with hereditary angioedema (HAE) experience episodes of soft

18 Patients with hereditary angioedema (HAE) have gained additional acces

19 Hereditary angioedema (HAE) is a rare genetic disorder p

20 Hereditary angioedema (HAE) is an autosomal dominant dis

21 Hereditary angioedema (HAE) is associated with recurrent

22 codes FXII, provoke acute tissue swelling in hereditary angioedema (HAE).

23 ted quality of life (HRQoL) in patients with hereditary angioedema (HAE).

24 It is a key player in some types of hereditary angioedema and is involved in septic shock, t

25 Hereditary angioedema is characterized by recurrent and

26 Like hereditary angioedema, acute IRI is also related to the

27 FDA-approved drug to treat acute attacks of hereditary angioedema.

28 The hereditary Arctic mutation of Abeta42 (E22G) leads to in

29 an overlapping relationship between HSP and hereditary ataxia and between CMT2 + HSP and hereditary

30 ng number of ion channel genes implicated in hereditary ataxia, it remains unclear how ion channel mu

31 hereditary ataxia and between CMT2 + HSP and hereditary ataxia.

32 ion results from a destabilizing mutation in hereditary ATTR amyloidosis (hATTR) or from an aging-lin

33 11 patients with wild-type ATTR-CM, 205 with hereditary ATTR-CM associated with the V1221 variant (V1

34 in cancers and Aicardi-Goutieres syndrome, a hereditary autoimmune encephalopathy.

35 Hereditary autoinflammatory diseases are caused by gene

36 rve disease in 2 unrelated families with the hereditary axonal neuropathy Charcot-Marie-Tooth disease

37 their association with allergic diseases and hereditary background in Finland and Estonia.

38 lies with specific cancer syndromes, such as hereditary breast and ovarian cancer (HBOC), consider ge

39 d autosomal dominant conditions-BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndr

40 Furthermore, we introduce Famdenovo.BRCA for hereditary breast and ovarian cancer syndrome and apply

41 conditions - familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome

42 factors governing genome stability underlies hereditary breast and ovarian cancer.

43 ions are the most common genes implicated in hereditary breast and ovarian cancers.

44 We found pathogenic variants associated with hereditary breast and/or ovarian cancer in two children,

45 chemosensitivity of tumors deficient in the hereditary breast cancer genes BRCA1 and BRCA2 (BRCA).

46 CA2 PV, < 50% reported a personal history of hereditary breast or ovarian-associated cancer.

47 ions, or inherited cancer syndromes, such as hereditary breast ovarian cancer syndrome, hereditary pa

48 tate cancer (PCA) treatment, management, and hereditary cancer assessment.

49 Hereditary cancer genetic testing of family members shou

50 emerged as a comprehensive analysis for both hereditary cancer predisposition and somatic profiling.

51 ed actionable pathogenic variants in 8 known hereditary cancer predisposition genes (PALB2, MLH1, MSH

52 Fifty-three genes previously implicated in hereditary cancer predisposition were captured using the

53 tifying therapeutic targets, and determining hereditary cancer risk.

54 multiple mole melanoma (FAMMM) syndrome is a hereditary cancer syndrome that results from mutations i

55 deubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with a high risk for mesothel

56 However, the term 'hereditary cancer syndrome' may be misleading, as a larg

57 s determined to be at high risk for having a hereditary cancer syndrome, and tumor-only sequencing fo

58 Hereditary cancer syndromes are typically caused by muta

59 Hereditary cancer syndromes represent ~10% of all incide

60 ious CRC, previous multiple large polyps, or hereditary cancer syndromes) and 66% were located distal

61 National Comprehensive Cancer Network (NCCN) hereditary cancer testing criteria was evaluated relativ

62 amiliar with the diagnosis and management of hereditary cancer.

63 te MMR cause Lynch syndrome, the most common hereditary cancer.

64 lso enriched 148 human genes associated with hereditary cancers to 29.6x coverage using one MinION fl

65 Hereditary cases are associated with germline mutations

66 osyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney dis

67 osyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney dis

68 0% of breast and ovarian cancers result from hereditary causes.

69 Hereditary cerebral amyloid angiopathy (HCAA) is a rare

70 Canine atopic dermatitis (cAD) is a common hereditary clinical syndrome in domestic dogs with no de

71 Hereditary complement C3 deficiency is associated with r

72 Urothelial cancers (UCs) have a substantial hereditary component, but, other than their association

73 While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,V

74 atment of Menkes and associated disorders of hereditary copper deficiency.

75 Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is characteri

76 intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehyd

77 In contrast, hereditary CP samples showed a significant increase in C

78 at reduce signaling are also associated with hereditary cranial malformations.

79 tory of DCM identified only 34% (n=12/35) of hereditary DCM, whereas systematic clinical screening id

80 t implications for research on myosin-7a and hereditary deaf-blindness.

81 nonsyndromic deafness.SIGNIFICANCE STATEMENT Hereditary deafness is a common, clinically and genetica

82 ion is a common hallmark of individuals with hereditary defects in DNA single-strand break repair; a

83 Hereditary deficiency of adenine phosphoribosyltransfera

84 Hereditary diffuse gastric cancer (HDGC) is an autosomal

85 Awareness and recognition of a potential hereditary diffuse gastric cancer can provide a substant

86 Hereditary diffuse gastric cancer is a rare condition th

87 ng in the family of a patient diagnosed with hereditary diffuse gastric cancer.

88 llelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids (H

89 rosis (CF) is a life-shortening, multisystem hereditary disease caused by abnormal chloride transport

90 Friedreich's ataxia (FRDA) is a human hereditary disease caused by the presence of expanded (G

91 unction mutations cause a severe form of the hereditary disease dyskeratosis congenita (DC).

92 (CF) remains the most common life-shortening hereditary disease in white populations, with high morbi

93 cystic kidney disease (PKD), the most common hereditary disease worldwide in which patients need cont

94 ity, protein expression, cell apoptosis, and hereditary disease, but are challenging to monitor in li

95 Indeed, although once considered a non-hereditary disease, genomic investigations of familial a

96 of protein stability in the pathogenesis of hereditary disease.

97 Recently, hereditary diseases associated with single gene mutation

98 When splice sites are mutated, as in many hereditary diseases, the spliceosome can aberrantly sele

99 beta-Thalassemia (BT) is a hereditary disorder characterized by altered hemoglobin

100 type (WT) and col4alpha5 knockout AS mice, a hereditary disorder characterized by progressive renal f

101 Huntington's disease (HD) is a hereditary disorder that typically manifests in adulthoo

102 beta-thalassemia is a hereditary disorder with limited approved treatment opti

103 syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common f

104 tionized the diagnosis and treatment of rare hereditary disorders of FGF23 excess that cause hypophos

105 molybdenum cofactor (MoCo) deficiencies are hereditary disorders that affect the catabolism of sulfu

106 he linkage of mutations in helicase genes to hereditary disorders with defects in DNA repair, the rep

107 an potentially expand the screening for rare hereditary disorders, but many questions surround its po

108 denominator in the pathomechanisms of these hereditary disorders.

109 elevated levels of GM-CSF autoantibodies) or hereditary (due to mutations in CSF2RA or CSF2RB, encodi

110 ve AMD (0.3%), toxic maculopathy (0.1%), and hereditary dystrophy (0.04%).

111 ative AMD, exudative AMD, toxic maculopathy, hereditary dystrophy, or an aggregate variable of any ma

112 re of alpha-synuclein fibrils containing the hereditary E46K mutation.

113 To our knowledge, this is the second form of hereditary emphysema since the discovery of A1AT deficie

114 rotein is the only well established cause of hereditary emphysema.

115 findings of myodural bridges in horses with hereditary equine regional dermal asthenia (HERDA), an e

116 tinues to afflict many families for whom the hereditary factors remain unknown.

117 cular basis of the neurodegenerative disease hereditary ferritinopathy (HF), in which dysregulation o

118 ity of life among patients with acquired and hereditary forms of the disease.

119 Among hereditary genetic mutations and nutrient factors, a lin

120 These findings demonstrate that pre-existing hereditary genetics can impact progression and survival

121 Many forms of hereditary hearing loss have mutations which affect the

122 eir contribution to the global prevalence of hereditary hearing loss is still widely unknown.

123 rdiomyopathy (HCM) is one of the most common hereditary heart diseases and is associated with a high

124 Hereditary hemochromatosis (HH) is an autosomal recessiv

125 s of iron overload and deficiency, including hereditary hemochromatosis and iron-refractory iron defi

126 Hereditary hemochromatosis is predominantly caused by th

127 sed in individuals with clinically diagnosed hereditary hemochromatosis, but risks are unclear in mos

128 l condition resulting from disorders such as hereditary hemochromatosis, thalassemia, sickle cell dis

129 in a rare form of the iron-overload disease hereditary hemochromatosis.

130 production is central to the pathogenesis of hereditary hemochromatosis.

131 Hereditary hemorrhagic telangiectasia (HHT) is a Mendeli

132 Hereditary hemorrhagic telangiectasia (HHT) is an autoso

133 Purpose To determine whether patients with hereditary hemorrhagic telangiectasia (HHT) who smoke to

134 has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe

135 Hereditary hemorrhagic telangiectasia (HHT), a genetic b

136 ANGPT2 function in an in vivo Smad4 model of hereditary hemorrhagic telangiectasia alleviated these v

137 ENG lead to the inherited vascular disorder hereditary hemorrhagic telangiectasia characterized by l

138 Hereditary hemorrhagic telangiectasia is an autosomal do

139 Mutations in the gene encoding ALK1 cause hereditary hemorrhagic telangiectasia type 2, a rare gen

140 TGFbeta downstream effectors responsible for hereditary hemorrhagic telangiectasia-associated AVM for

141 sistence after embolization in patients with hereditary hemorrhagic telangiectasia.

142 BM components are associated with a range of hereditary human diseases such as Alport syndrome, which

143 n D (GSDMD) is required for murine models of hereditary inflammasome-driven, IL-1beta-dependent, auto

144 , and interrogating the temporal dynamics of hereditary information across many systems.

145 cognized as an additional source of paternal hereditary information beyond DNA.

146 mammals, urges a rethinking of the nature of hereditary information carriers and the ways in which th

147 hort opinion piece, we discuss how potential hereditary information carriers such as DNA-associated p

148 an RNA world is expected to propagate RNA as hereditary information, requiring some form of primitive

149 nce, may represent a higher-order carrier of hereditary information.

150 ranscription factor mutated in families with hereditary intellectual disability.

151 The field of hereditary kidney cancer has begun to mature following t

152 ic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common cau

153 tumorigenesis is the genetic cancer syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRC

154 We applied our approach to analyze hereditary leiomyomatosis and renal cell carcinoma (HLRC

155 on hereditary renal tumor syndrome, known as hereditary leiomyomatosis and renal cell carcinoma.

156 V-ATPase assembly defects are thus a form of hereditary liver disease with implications for the patho

157 Nephropathic cystinosis, a hereditary lysosomal storage disorder caused by dysfunct

158 S maculopathy allow for differentiation from hereditary maculopathies even in the absence of known ex

159 d macular degeneration (AMD), exudative AMD, hereditary maculopathy, and toxic maculopathy.

160 verse RNA populations could be propagated as hereditary material in cellular contexts.

161 enotype correlations of humans and dogs with hereditary methemoglobinemia are not yet well characteri

162 s unlikely to alter the clinical approach to hereditary methemoglobinemia in dogs, it demonstrates th

163 eficiency is the predominate cause of canine hereditary methemoglobinemia.

164 gy and the clinical outlook for treatment of hereditary mitochondrial disease.

165 vage is maintained or perturbed in different hereditary monogenic conditions and in acquired conditio

166 Distal hereditary motor neuropathies (HMNs) and axonal Charcot-

167 king amyotrophic lateral sclerosis or distal hereditary motor neuropathy (56%), multinevritis with cr

168 axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN).

169 many neoantigens shared across sporadic and hereditary MSI tumors.

170 containing the amyotrophic lateral sclerosis hereditary mutation A315E), which forms R-shaped folds.

171 ecular mechanism for the action of the hIAPP hereditary mutation S20G; (iii) explains why the six res

172 alpha-synuclein fibrils containing the H50Q hereditary mutation.

173 Hereditary mutations in alpha-synuclein are linked to bo

174 ewy bodies and multiple system atrophy, with hereditary mutations in alpha-synuclein linked to the fi

175 Hereditary mutations in polynucleotide kinase-phosphatas

176 Understanding the effect of these hereditary mutations on alpha-synuclein fibril structure

177 Hereditary mutations to GlyRs can lead to the rare, but

178 Moreover, to the best of our knowledge, Hereditary Myotonia has never been associated with a gen

179 This is the first study reporting Hereditary Myotonia in pigs and characterizing its clini

180 However, there are no reports of Hereditary Myotonia in pigs to date.

181 cted pigs presented non-dystrophic recessive Hereditary Myotonia.

182 AIS and provides the first evidence for its hereditary nature.

183 Alport syndrome (AS) is a hereditary nephropathy caused by mutations in collagen I

184 Alport syndrome is a hereditary nephropathy caused by mutations in collagen I

185 or of ciliogenesis, and is also mutated in a hereditary neurodegenerative disorder, spinocerebellar a

186 e to expansion mutations that cause multiple hereditary neurological and neuromuscular diseases.

187 5q-Associated spinal muscular atrophy is a hereditary neuromuscular disease leading to progressive

188 inal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucle

189 s that underlie abnormal myelin formation in hereditary neuropathies is critical for advancing therap

190 ts genetic abnormalities account for ~80% of hereditary neuropathies.

191 Protein Zero (Mpz) gene produce wide-ranging hereditary neuropathy phenotypes.

192 his gene causes a separate neuropathy termed hereditary neuropathy with liability to pressure palsies

193 SORD) as the most frequent recessive form of hereditary neuropathy.

194 ical multiple mole melanoma, Lynch syndrome (hereditary nonpolyposis colorectal cancer), ataxia telan

195 mutations have been associated with Leber's hereditary optic neuropathy (LHON) and their pathophysio

196 Leber's hereditary optic neuropathy (LHON) is a classical mitoch

197 Leber hereditary optic neuropathy (LHON) is a degenerative dis

198 Leber's hereditary optic neuropathy (LHON) is a rare genetic mit

199 Leber hereditary optic neuropathy (LHON) is a syndrome of suba

200 cally to treat the Complex I disease Leber's hereditary optic neuropathy (LHON), but has been less su

201 tochondrial optic neuropathies such as Leber Hereditary Optic Neuropathy.

202 ly to treat loss of visual acuity in Leber's hereditary optic neuropathy.

203 amework" (PEF) for the etiology of insanity, hereditary or constitutional factors were critical predi

204 can accelerate its autoactivation and cause hereditary or sporadic chronic pancreatitis.

205 Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neurop

206 Hereditary pancreatitis (HP) is a heritable, autosomal-d

207 s in CKDN2A and PRSS1 mutation carriers with hereditary pancreatitis and at age 35 years in the setti

208 tely 1% of people diagnosed with CP may have hereditary pancreatitis, associated with cationic trypsi

209 ng all patients with Peutz-Jeghers syndrome, hereditary pancreatitis, patients with CDKN2A gene mutat

210 s hereditary breast ovarian cancer syndrome, hereditary pancreatitis, Peutz-Jeghers syndrome, familia

211 tic proteases have been previously linked to hereditary pancreatitis, this is the first known instanc

212 epeat kinase 2 (LRRK2) are a common cause of hereditary Parkinson's disease.

213 Each man was evaluated for FH of hereditary PC (HPC), HBOC, and Lynch syndrome (LS) and f

214 atic disease or family history suggestive of hereditary PCA was recommended for GT.

215 de de novo generation of naturally occurring hereditary persistence of fetal hemoglobin (HPFH) mutati

216 s condition of hemoglobin S with pancellular hereditary persistence of fetal hemoglobin are both rela

217 ewer ones such as refractory celiac disease, hereditary polyposis syndromes and Crohn's disease.

218 describe a mouse model intended to reproduce hereditary PPGL through Cre-mediated loss of SDHC in cel

219 Genetic testing for hereditary predisposition to cancer is warranted in UM p

220 7) and lack of samples from individuals with hereditary predisposition to PDAC, for which specimens c

221 of germline mutations in PALB2 and MLH1 with hereditary predisposition to UM.

222 We investigate its contribution to hereditary prostate cancer (HPC) in independent study po

223 n hnRNPA2 increase its aggregation and cause hereditary proteinopathy of neurons, myocytes, and bone.

224 spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown.

225 genotype cohorts of patients with suspected hereditary renal disease and chronic proteinuria.

226 ic kidney disease (ADPKD) is the most common hereditary renal disease, characterized by cyst formatio

227 osomal storage disease and the main cause of hereditary renal Fanconi syndrome.

228 These features are mimicked in a less common hereditary renal tumor syndrome, known as hereditary lei

229 linked to neuronal cell death, including in hereditary retinal degeneration.

230 Hereditary retinal degenerations (HRDs) are Mendelian di

231 progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised b

232 hrough October 22, 2019: 362.70 (unspecified hereditary retinal dystrophy), 362.74 + H35.52 (pigmenta

233 Survivors of hereditary retinoblastoma have excellent survival but su

234 In this study, a cohort of hereditary retinoblastoma patients at increased risk for

235 Among our hereditary retinoblastoma screening cohort (n=215) 4 pat

236 eath share a substantial proportion of their hereditary risk, they do not, from a genetic perspective

237 Hereditary sensory and autonomic neuropathy (HSAN) types

238 autonomia (FD) is the most prevalent form of hereditary sensory and autonomic neuropathy (HSAN).

239 Hereditary sensory and autonomic neuropathy type III (HS

240 Individuals with hereditary sensory and autonomic neuropathy type III (HS

241 mutation in nerve growth factor (NGF) causes Hereditary Sensory and Autonomic Neuropathy type V, a ra

242 Hereditary sensory neuropathy type 1 (HSN1) is a rare, s

243 in complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1),

244 radation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxi

245 o both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the aff

246 Hereditary spastic paraplegia (HSP) describes a heteroge

247 tification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that

248 Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show simila

249 known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG8.

250 ogy of neurodegenerative diseases, including hereditary spastic paraplegia (HSP), a disorder characte

251 he human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive

252 rotein spastin, are the most common cause of hereditary spastic paraplegia (HSP).

253 g, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum ou

254 sh PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipi

255 Chinese families with an autosomal dominant hereditary spastic paraplegia and lacking mutations in k

256 creasingly broad pools of previously unknown hereditary spastic paraplegia causative genes and subtyp

257 ic paraplegia and lacking mutations in known hereditary spastic paraplegia implicated genes.

258 Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neu

259 Here, we show that the hereditary spastic paraplegia protein M1 Spastin, a memb

260 se a complicated form of autosomal-recessive hereditary spastic paraplegia termed AP-4-deficiency syn

261 imer's disease, hypoxia, multiple sclerosis, hereditary spastic paraplegia, and others.

262 manifestation of adolescent-onset, isolated hereditary spastic paraplegia.

263 p60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.

264 eing centrally involved in MND, particularly hereditary spastic paraplegia.

265 erstood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4

266 and its mutation is the most common cause of hereditary spastic paraplegias (HSP).

267 ate signaling as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias an

268 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in

269 ies for modulation of disease progression in hereditary spastic paraplegias and other MNDs.

270 Hereditary spastic paraplegias refer to a heterogeneous

271 Clinical characterization of patients with hereditary spastic paraplegias represents progressive sp

272 orter pathlength and reduced tortuosity) and hereditary spherocytosis (HS; expanded pathlength).

273 lytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder

274 cyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5.

275 on Piezo1 mutations causing human dehydrated hereditary stomatocytosis.

276 ll survival compared to sporadic, Crohn- and hereditary syndrome-related SBA.

277 a number of predisposing conditions such as hereditary syndromes and immune-mediated intestinal diso

278 Molecular defects within these hereditary syndromes demonstrate consistent deficits in

279 Detailed studies of the rare hereditary syndromes have led to identification of speci

280 cinoma should undergo assessment of risk for hereditary syndromes known to be associated with an incr

281 AC and its precursors will be described, the hereditary syndromes that predispose to PDAC will be rev

282 eat expansions in the HOXD13 TF, which cause hereditary synpolydactyly in humans, alter its phase sep

283 A hereditary system that is based on double-helix DNA sequ

284 ogenic and cause, respectively, sporadic and hereditary systemic TTR amyloidosis.

285 Clinical genetic testing of known hereditary thoracic aortic dissection genes should be co

286 To identify novel causes of hereditary thrombocytopenia, we performed a genetic asso

287 ult, they provide valuable information about hereditary transmission, context of SV, regulation of ge

288 Hereditary transthyretin (TTR) amyloid cardiomyopathy (h

289 A common treatment of patients with hereditary transthyretin amyloidosis is liver transplant

290 Hereditary transthyretin-mediated (hATTR) amyloidosis is

291 Hereditary transthyretin-mediated amyloidosis is a rare,

292 at inhibits TTR production, in patients with hereditary transthyretin-mediated amyloidosis with polyn

293 n acceptable safety profile in patients with hereditary transthyretin-mediated amyloidosis with polyn

294 Most hereditary tumors show aberrations in DNA repair genes o

295 th such mutations include Leigh syndrome and hereditary tumors such as pheochromocytoma and paragangl

296 utations in the FAH gene are associated with hereditary tyrosinemia type I (HT1 or TYRSN1) in humans.

297 ng fumarylacetoacetate hydrolase (FAH) cause hereditary tyrosinemia type I (HT1), a metabolic disorde

298 ory-based criteria to identify patients with hereditary UC susceptibility are insensitive.

299 ensive ancillary testing were concerning for hereditary versus autoimmune retinopathy.

300 ests a role for specific T cell responses in hereditary versus idiopathic CP pathogenesis, providing