ライフサイエンスコーパス: recessive disease

1 fied a novel TNNI3 mutation in a family with recessive disease.

2 rogressive, and rare neuromuscular, X-linked recessive disease.

3 ted between siblings with the same autosomal recessive disease.

4 ion, which is inconsistent with an autosomal recessive disease.

5 ed disease, and 67.2% (n = 45) had autosomal recessive disease.

6 defects in this gene are not responsible for recessive disease.

7 y of the disorder, consistent with autosomal recessive disease.

8 ALG3-CDG is a rare autosomal recessive disease.

9 syndrome type 1 (APS-1) is a rare autosomal recessive disease.

10 ia, aphakia or sclerocornea, more typical of recessive disease.

11 ene was previously associated with autosomal recessive disease.

12 Asia, has resulted in an elevated burden of recessive disease.

13 rare co-occurring variants in the context of recessive disease.

14 action of unexpected recurrences of X-linked recessive disease.

15 mizygous deletions potentially causative for recessive disease.

16 had two pathogenic variants for an autosomal-recessive disease.

17 number variants (CNVs) to carrier status and recessive disease.

18 causal mutations for Miller syndrome, a rare recessive disease.

19 presentation due to imprinting disorders or recessive diseases.

20 ions exhibit an increased prevalence of rare recessive diseases.

21 ted pharmacogenomics, and carrier status for recessive diseases.

22 a group of genetically heterogeneous, lethal recessive diseases.

23 edicted future reduction in risk for certain recessive diseases.

24 mmunities generally have high rates of rare, recessive diseases.

25 one of the most common and lethal autosomal recessive diseases.

26 se it can result in imprinting disorders and recessive diseases.

27 raction and the likelihood of a gene causing recessive diseases.

28 esults in the relative increase in autosomal recessive diseases.

29 omozygosity mapping of genes associated with recessive diseases.

30 The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with life-threat

31 y syndrome is a recently described autosomal recessive disease affecting skin, nails, and hair (MIM 6

32 strophy and one of the most common autosomal recessive diseases among the Japanese population, and ye

33 genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors fo

34 n elucidate causes of previously unexplained recessive diseases and early miscarriage.

35 Carrier status for recessive diseases and pharmacogenomics variants were re

36 inked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as r

37 autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease.

38 Ataxia telangiectasia (AT) is a typical recessive disease, and individual carriers cannot be rel

39 It is a rare autosomal recessive disease, and the majority of patients diagnose

40 proach to studying fully penetrant autosomal-recessive diseases, and it has been very powerful in ide

41 Autosomal recessive diseases are those that require mutations in b

42 Recessive diseases arise when both copies of a gene are

43 re hallmarks of Bloom syndrome, an autosomal recessive disease arising from mutations in the BLM gene

44 allmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of cli

45 Fanconi's anemia is an autosomal recessive disease associated with chromosomal breakage a

46 y hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regulation of

47 n-Lefevre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-function mutat

48 Discovery of most autosomal recessive disease-associated genes has involved analysis

49 Asians through discovery of and testing for recessive disease-associated genes.

50 Of the recessive disease associations that we identify, 13 out

51 The hereditary autosomal recessive disease ataxia telangiectasia (A-T) is caused

52 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was local

53 TM is the gene responsible for the autosomal recessive disease ataxia-telangiectasia (AT).

54 utation of which lead to the human autosomal recessive diseases ataxia telangiectasia and Nijmegen br

55 Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome typ

56 re propose that BBS may not be a single-gene recessive disease but a complex trait requiring three mu

57 nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of

58 olysaccharidosis (MPS) IIIB, is an autosomal recessive disease caused by a deficiency of lysosomal al

59 dreich ataxia (FRDA) is a frequent autosomal recessive disease caused by a GAA repeat expansion in th

60 Friedreich's ataxia (FA) is an autosomal recessive disease caused by decreased expression of the

61 ary ciliary dyskinesia (PCD) is an autosomal recessive disease caused by defective cilia motility.

62 ary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoac

63 polysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetyl

64 Cystic fibrosis (CF) is an autosomal recessive disease caused by dysfunctional cystic fibrosi

65 Ataxia Telangiectasia (A-T) is an autosomal recessive disease caused by loss of function of the prot

66 Ataxia telangiectasia (A-T) is an autosomal recessive disease caused by loss of function of the seri

67 ibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in

68 age disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosph

69 Ataxia-telangiectasia (A-T) is an autosomal recessive disease caused by mutation of the ATM gene and

70 omotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which enc

71 d mortality in cystic fibrosis, an autosomal recessive disease caused by mutations in CFTR.

72 roderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair gene

73 Sitosterolemia is a rare, autosomal recessive disease caused by mutations in the adenosine t

74 dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the AIRE gene.

75 dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gen

76 Cystic fibrosis (CF) is a common autosomal recessive disease caused by mutations in the CF transmem

77 Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene t

78 Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene.

79 cial anomalies) syndrome is a rare autosomal recessive disease caused by mutations in the DNA methylt

80 egion instability and facial anomalies) is a recessive disease caused by mutations in the DNA methylt

81 ia-telangiectasia (A-T) is a human autosomal recessive disease caused by mutations in the gene encodi

82 enne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the gene encodi

83 stinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encodi

84 depletion syndrome is an inherited autosomal recessive disease caused by mutations in the inner mitoc

85 ysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by N-acetylgalactosamine-6-sulf

86 enne muscular dystrophy (DMD) is an X-linked recessive disease caused by the lack of expression of th

87 enne muscular dystrophy (DMD) is an X-linked recessive disease caused, in most cases, by the complete

88 rders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxisomal matr

89 rophies 2C-F represent a family of autosomal recessive diseases caused by defects in sarcoglycan gene

90 Cystic fibrosis (CF) is a familial autosomal recessive disease, caused by genetic diversity in the CF

91 ibrosis (CF) is a life-threatening autosomal recessive disease, caused by mutations in the CF transme

92 ete deficiency of CPSase I, a rare autosomal recessive disease, causes death in newborn infants.

93 Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated

94 for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of

95 the allelic architecture of both carrier and recessive disease-causing mutations.

96 hat made them unlikely to be high-penetrance recessive disease-causing variants (HPRDCV).

97 nit cause abetalipoproteinemia, an autosomal recessive disease characterized by a defect in the assem

98 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by a greatly increased r

99 Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high incidence of s

100 Werner syndrome is a rare autosomal recessive disease characterized by a premature aging phe

101 Cystic fibrosis (CF) is an autosomal recessive disease characterized by abnormal airways secr

102 Here we report a novel autosomal recessive disease characterized by absent B cells, agamm

103 Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure,

104 Fanconi anemia (FA) is an autosomal recessive disease characterized by chromosomal instabili

105 oni anemia (FA) is a heterogeneous autosomal recessive disease characterized by congenital abnormalit

106 Fanconi Anemia (FA) is a rare recessive disease characterized by congenital abnormalit

107 Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies,

108 l (Ochoa) syndrome (UFS) is a rare autosomal recessive disease characterized by congenital obstructiv

109 me (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bl

110 Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expr

111 Bartter's syndrome is an autosomal recessive disease characterized by diverse abnormalities

112 Werner syndrome (WS) is an autosomal recessive disease characterized by early onset of many f

113 GAMOS), a clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-r

114 y hyperoxaluria type-1 (PH1) is an autosomal recessive disease characterized by excessive oxalate pro

115 Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when

116 Fanconi anemia (FA) is an autosomal recessive disease characterized by genomic instability,

117 acial anomalies (ICF) syndrome cases, a rare recessive disease characterized by immune defects, insta

118 and facial abnormalities) syndrome is a rare recessive disease characterized by immunodeficiency, ext

119 ntosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair U

120 ; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete bladder em

121 y hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorp

122 editary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumulation in

123 glycosylation type IIc) is a rare autosomal recessive disease characterized by leukocyte adhesion de

124 We describe a previously unknown autosomal recessive disease characterized by microcephaly, early-o

125 Fanconi anemia is a rare autosomal recessive disease characterized by multiple congenital a

126 ren syndrome (MSS), a debilitating autosomal recessive disease characterized by multisystem defects.

127 enne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dyst

128 Friedreich ataxia is a severe autosomal-recessive disease characterized by neurodegeneration, ca

129 yne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegeneration, ca

130 Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized by normal brain developm

131 imary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation

132 Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and

133 ky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and

134 ene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature aging, elev

135 Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging.

136 Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive bone marr

137 Ataxia-telangiectasia (A-T) is an autosomal recessive disease characterized by progressive cerebella

138 Friedreich ataxia (FA) is an autosomal recessive disease characterized by progressive damage to

139 eudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic m

140 nean fever (FMF; MIM 249100) is an autosomal recessive disease characterized by recurrent attacks of

141 min D-dependent rickets type I, an autosomal recessive disease characterized by rickets and impaired

142 sal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by severe normocytic ane

143 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by skeletal defects, ane

144 BCG8 (G8) cause sitosterolemia, an autosomal recessive disease characterized by sterol accumulation a

145 loway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of ea

146 yndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical re

147 her syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmenta

148 ophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or d

149 strom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dys

150 and Finns, both of which have high rates of recessive disease due to founder events.

151 al Mediterranean fever (FMF) is an autosomal recessive disease due to mutations in pyrin, which norma

152 al encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in t

153 LC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases featuring large reductions in blood p

154 riants in 22 genes associated with autosomal-recessive disease from the Genome Aggregation Database (

155 carrier deletions encompassing more than one recessive disease gene (206 deletions).

156 e genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier

157 tionary differences between LoF-tolerant and recessive disease genes and a method for using these dif

158 Over 1200 recessive disease genes have been described in humans.

159 Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for mu

160 When compared with recessive disease genes never deleted in our cohort, the

161 ntial carrier deletions affecting 419 unique recessive disease genes.

162 dentify deletions encompassing or disrupting recessive disease genes.

163 This autosomal recessive disease has been reported to occur in several

164 product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis.

165 s traditionally been considered an autosomal-recessive disease; however, it has been observed that a

166 emonstrate that the disorder is an autosomal recessive disease in these kindreds.

167 k syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysos

168 Chanarin-Dorfman syndrome, a rare autosomal recessive disease in which excess triacylglycerol (TAG)

169 gene result in Werner syndrome, an autosomal recessive disease in which many characteristics of aging

170 rner syndrome (WRN) is an uncommon autosomal recessive disease in which progeroid features are associ

171 Canine cyclic neutropenia is an autosomal recessive disease in which the number of neutrophils, th

172 fore predict that there will be an excess of recessive diseases in India, which should be possible to

173 We identified multiple examples of recessive diseases in South Asia that are the result of

174 This autosomal recessive disease is caused by mutations in NR2E3, a pho

175 This autosomal recessive disease is caused by mutations in the ADSS1 ge

176 This autosomal recessive disease is characterized by variable progressi

177 This autosomal recessive disease is diagnosed in many regions following

178 The most common X-linked recessive disease is Duchenne muscular dystrophy (DMD),

179 The defining characteristic of recessive diseases is the absence of a phenotype in the

180 rage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debra

181 SMA), one of the most common fatal autosomal recessive diseases, is characterized by degeneration of

182 However, for many autosomal recessive diseases, it can be difficult to deduce the re

183 hy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting

184 ads to reduction to homozygosity at multiple recessive disease loci, including tumor suppressor loci,

185 Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow failure and

186 oup E of xeroderma pigmentosum, an autosomal recessive disease manifested clinically by hypersensitiv

187 Fanconi anemia (FA) is an autosomal recessive disease marked by bone marrow failure, birth d

188 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects, bone mar

189 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects, bone mar

190 Fanconi anemia (FA) is an autosomal recessive disease marked by developmental defects, bone

191 Our findings show that carriers of a recessive disease may have an "expression phenotype." In

192 e uncommon alleles that also cause monogenic recessive diseases: MEFV in Behcet's disease and Henoch-

193 eity logarithm of odds score = 3.9), under a recessive disease model with 100% penetrance and a risk

194 GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH).

195 Fanconi anemia (FA) is an autosomal recessive disease of cancer susceptibility.

196 trophy is the second most frequent autosomal recessive disease of childhood and the most fatal.

197 The similar autosomal recessive disease of dogs, canine cyclic hematopoiesis,

198 avajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living

199 ietic anemia type II (CDAII) is an autosomal recessive disease of ineffective erythropoiesis characte

200 MA), the second most common fatal, autosomal recessive disease of infants, manifests as generalized m

201 Photoreceptor dysplasia (pd) is an autosomal recessive disease of miniature schnauzer dogs causing re

202 drodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis characterized

203 Achromatopsia is an autosomal recessive disease of the retina, characterized clinicall

204 a pattern consistent with tight linkage to a recessive disease: one allele in the affected sibs and m

205 monstrate that the alleles associated with a recessive disease phenotype are expected to exist in a p

206 lelic hits being able to modify an autosomal recessive disease phenotype in humans.

207 cations for the role that heterozygosity for recessive diseases plays in the overall genetic architec

208 st six loci that contribute to the autosomal recessive disease, primary microcephaly.

209 Our strategy may apply to other recessive diseases, providing a tool to address the chal

210 However, few recessive disease resistance genes have been characteriz

211 SCD is an autosomal recessive disease resulting from a single point mutation

212 rnitine deficiency (SCD) is a rare autosomal recessive disease resulting from defects in the OCTN2 (S

213 age disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-bran

214 Cystic fibrosis (CF) is a common autosomal recessive disease resulting from mutations of the gene t

215 Fanconi anemia (FA) is a multigenic recessive disease resulting in bone marrow failure and i

216 Spinal muscular atrophy is an autosomal recessive disease resulting in motor neuron degeneration

217 d on the role of consanguinity in increasing recessive disease risk, but little is known about its re

218 Interestingly, new mutations in X-linked recessive disease show elevated familial recurrence rate

219 Autosomal recessive diseases, such as cystic fibrosis (CF), requir

220 esting gene augmentation strategies in human recessive diseases suggest promising safety and efficacy

221 litude, higher for patients with dominant or recessive disease than for patients with x-linked diseas

222 Cystic fibrosis (CF) is a recessive disease that affects multiple organs.

223 that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the

224 l muscular dystrophy type 1A is an autosomal recessive disease that is caused by loss-of-function mut

225 Sclerosteosis is an autosomal recessive disease that is characterized by overgrowth of

226 al synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature

227 avajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo childre

228 Choroideremia is an X-linked recessive disease that leads to blindness due to mutatio

229 yserythropoietic anemia type I, an autosomal recessive disease that manifests from mutations in CDAN1

230 use Werner syndrome (WRN), a human autosomal recessive disease that mimics premature aging and is ass

231 venile Batten disease (JNCL) is an autosomal recessive disease that results from mutations in the CLN

232 y hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalit

233 Acheiropodia is an autosomal recessive disease that results in hemimelia (lack of for

234 Werner syndrome (WS) is an autosomal recessive disease that results in premature aging.

235 el syndrome (SCKL, MIM 210600), an inherited recessive disease that results in primordial dwarfism, c

236 in ARSs typically cause severe, early-onset, recessive diseases that affect a wide range of tissues.

237 ated ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain

238 acial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleoti

239 glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation.

240 nbreeding can elevate the occurrence of rare recessive diseases that represent homozygotes for strong

241 Werner syndrome (WS) is an autosomal recessive disease, the phenotype of which is a caricatur

242 deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiam

243 ative efforts to characterize rare autosomal recessive disease traits, and (4) provides insights into

244 y is important both in the identification of recessive disease variants via homozygosity mapping and

245 ze of the homozygous segment associated with recessive disease was 26 cM (n = 100; range 5-70 cM).

246 as approximately 6 months, and the autosomal recessive disease was believed to arise from abnormal mu

247 An autosomal recessive disease was found in 62.9% of patients, reflec

248 as markers for large deletions in autosomal recessive diseases when only a single mutation is found,

249 roid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is Cln2, enc

250 heritance in Man 235510) is a rare autosomal recessive disease, which is associated with mutations in

251 y mutations of the WRN gene, is an autosomal recessive disease, which is characterized by premature a

252 We found that in individuals with a recessive disease whose parents were first cousins, on a

253 rner syndrome (WRN) is an uncommon autosomal recessive disease whose phenotype includes features of p

254 ongenital hyperinsulinism (HI), an autosomal recessive disease, whose relatively high frequency in As

255 Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype that is sugge

256 cate that IQSEC1 variants are the cause of a recessive disease with intellectual disability, developm

257 ne lead to Cystic Fibrosis (CF)-an autosomal recessive disease with majority of the morbidity and mor

258 port syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade

259 Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional urination in

260 is biosynthetic pathway trigger an autosomal recessive disease with severe neurological symptoms, whi

261 equence of this is an increased incidence of recessive disease within these sibships.