ライフサイエンスコーパス: recessive disease

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

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

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

4 ted between siblings with the same autosomal recessive disease.

5 ion, which is inconsistent with an 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 ed disease, and 67.2% (n = 45) had autosomal recessive disease.

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

10 mizygous deletions potentially causative for recessive disease.

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

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

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

14 ions exhibit an increased prevalence of rare recessive diseases.

15 a group of genetically heterogeneous, lethal recessive diseases.

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

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

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

19 esults in the relative increase in autosomal recessive diseases.

20 omozygosity mapping of genes associated with recessive diseases.

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

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

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

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

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

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

27 Autosomal recessive diseases are those that require mutations in b

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

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

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

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

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

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

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

35 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was local

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

130 ntial carrier deletions affecting 419 unique recessive disease genes.

131 dentify deletions encompassing or disrupting recessive disease genes.

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

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

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

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

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

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

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

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

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

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

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

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

144 This autosomal recessive disease is characterized by variable progressi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

176 However, few recessive disease resistance genes have been characteriz

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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