ライフサイエンスコーパス: autosomal recessive disease

1 had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease.

2 ily history of the disorder, consistent with autosomal recessive disease.

3 that existed between siblings with the same autosomal recessive disease.

4 inant fashion, which is inconsistent with an autosomal recessive disease.

5 rticipant had two pathogenic variants for an autosomal-recessive disease.

6 A) remains one of the most common and lethal autosomal recessive diseases.

7 t, which results in the relative increase in autosomal recessive diseases.

8 n fragility syndrome is a recently described autosomal recessive disease affecting skin, nails, and h

9 uscular dystrophy and one of the most common autosomal recessive diseases among the Japanese populati

10 s, 33 had autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease.

11 It is a rare autosomal recessive disease, and the majority of patient

12 n ideal approach to studying fully penetrant autosomal-recessive diseases, and it has been very power

13 Autosomal recessive diseases are those that require muta

14 o cancer are hallmarks of Bloom syndrome, an autosomal recessive disease arising from mutations in th

15 Fanconi's anemia is an autosomal recessive disease associated with chromosomal

16 Hereditary hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regu

17 Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-func

18 Discovery of most autosomal recessive disease-associated genes has involve

19 The hereditary autosomal recessive disease ataxia telangiectasia (A-T)

20 In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T)

21 ATM is the gene responsible for the autosomal recessive disease ataxia-telangiectasia (AT).

22 nd NBS1, mutation of which lead to the human autosomal recessive diseases ataxia telangiectasia and N

23 Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine sy

24 Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the tr

25 , or mucopolysaccharidosis (MPS) IIIB, is an autosomal recessive disease caused by a deficiency of ly

26 Friedreich's ataxia (FA) is an autosomal recessive disease caused by decreased expressi

27 Primary ciliary dyskinesia (PCD) is an autosomal recessive disease caused by defective cilia mo

28 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fuma

29 pe B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alph

30 Ataxia telangiectasia (A-T) is an autosomal recessive disease caused by loss of function o

31 Ataxia Telangiectasia (A-T) is an autosomal recessive disease caused by loss of function o

32 taxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX,

33 rbidity and mortality in cystic fibrosis, an autosomal recessive disease caused by mutations in CFTR.

34 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA r

35 Sitosterolemia is a rare, autosomal recessive disease caused by mutations in the a

36 ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the A

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

38 Cystic fibrosis is an autosomal recessive disease caused by mutations in the C

39 ity and Facial anomalies) syndrome is a rare autosomal recessive disease caused by mutations in the D

40 Ataxia-telangiectasia (A-T) is a human autosomal recessive disease caused by mutations in the g

41 drial DNA depletion syndrome is an inherited autosomal recessive disease caused by mutations in the i

42 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by N-acetylgalactosam

43 cular dystrophies 2C-F represent a family of autosomal recessive diseases caused by defects in sarcog

44 cogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucos

45 nesis disorders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxi

46 ted, complete deficiency of CPSase I, a rare autosomal recessive disease, causes death in newborn inf

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

48 adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an asso

49 7-kDa subunit cause abetalipoproteinemia, an autosomal recessive disease characterized by a defect in

50 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by a greatly i

51 Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high inci

52 Werner syndrome is a rare autosomal recessive disease characterized by a premature

53 Cystic fibrosis (CF) is an autosomal recessive disease characterized by abnormal ai

54 Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow

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

56 e urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disease characterized by congenital

57 Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital

58 Fanconi anemia (FA) is a heterogeneous autosomal recessive disease characterized by congenital

59 Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted f

60 Bartter's syndrome is an autosomal recessive disease characterized by diverse abn

61 Werner syndrome (WS) is an autosomal recessive disease characterized by early onset

62 Primary hyperoxaluria type-1 (PH1) is an autosomal recessive disease characterized by excessive o

63 Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grim

64 Fanconi anemia (FA) is an autosomal recessive disease characterized by genomic ins

65 erma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability t

66 drome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete

67 Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased i

68 Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumu

69 isorder of glycosylation type IIc) is a rare autosomal recessive disease characterized by leukocyte a

70 We describe a previously unknown autosomal recessive disease characterized by microcephal

71 Fanconi anemia is a rare autosomal recessive disease characterized by multiple co

72 nesco-Sjogren syndrome (MSS), a debilitating autosomal recessive disease characterized by multisystem

73 Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegene

74 Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized by normal brai

75 Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate acc

76 Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dil

77 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet de

78 Werner syndrome (WS) is an autosomal recessive disease characterized by premature a

79 n of the gene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature a

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

81 Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive

82 Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive

83 Mediterranean fever (FMF; MIM 249100) is an autosomal recessive disease characterized by recurrent a

84 wn as vitamin D-dependent rickets type I, an autosomal recessive disease characterized by rickets and

85 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by skeletal de

86 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal recessive disease characterized by sterol accu

87 The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressiv

88 ial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital

89 Friedreich ataxia is a severe autosomal-recessive disease characterized by neurodegene

90 Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combina

91 Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod r

92 Familial Mediterranean fever (FMF) is an autosomal recessive disease due to mutations in pyrin, w

93 rointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that r

94 This autosomal recessive disease has been reported to occur i

95 e protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis.

96 r (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observ

97 age data demonstrate that the disorder is an autosomal recessive disease in these kindreds.

98 nsky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding,

99 mans cause Chanarin-Dorfman syndrome, a rare autosomal recessive disease in which excess triacylglyce

100 n the WRN gene result in Werner syndrome, an autosomal recessive disease in which many characteristic

101 Werner syndrome (WRN) is an uncommon autosomal recessive disease in which progeroid features

102 Canine cyclic neutropenia is an autosomal recessive disease in which the number of neutr

103 This autosomal recessive disease is caused by mutations in NR

104 This autosomal recessive disease is characterized by variable

105 ycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glyc

106 atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degene

107 However, for many autosomal recessive diseases, it can be difficult to ded

108 ular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscl

109 Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow fa

110 ntation group E of xeroderma pigmentosum, an autosomal recessive disease manifested clinically by hyp

111 Fanconi anemia (FA) is an autosomal recessive disease marked by bone marrow failur

112 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects

113 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects

114 Fanconi anemia (FA) is an autosomal recessive disease marked by developmental defe

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

116 muscular atrophy is the second most frequent autosomal recessive disease of childhood and the most fa

117 The similar autosomal recessive disease of dogs, canine cyclic hemat

118 Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo child

119 serythropoietic anemia type II (CDAII) is an autosomal recessive disease of ineffective erythropoiesi

120 atrophy (SMA), the second most common fatal, autosomal recessive disease of infants, manifests as gen

121 Photoreceptor dysplasia (pd) is an autosomal recessive disease of miniature schnauzer dogs

122 rm of chondrodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis cha

123 Achromatopsia is an autosomal recessive disease of the retina, characterized

124 ultiple allelic hits being able to modify an autosomal recessive disease phenotype in humans.

125 ong at least six loci that contribute to the autosomal recessive disease, primary microcephaly.

126 ystemic carnitine deficiency (SCD) is a rare autosomal recessive disease resulting from defects in th

127 cogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient gly

128 Congenital muscular dystrophy type 1A is an autosomal recessive disease that is caused by loss-of-fu

129 Sclerosteosis is an autosomal recessive disease that is characterized by ove

130 ocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by sho

131 Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Nava

132 RN gene cause Werner syndrome (WRN), a human autosomal recessive disease that mimics premature aging

133 Juvenile Batten disease (JNCL) is an autosomal recessive disease that results from mutations

134 h secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte

135 Acheiropodia is an autosomal recessive disease that results in hemimelia (l

136 Werner syndrome (WS) is an autosomal recessive disease that results in premature ag

137 ro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family o

138 sorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation

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

140 abetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defec

141 pectancy was approximately 6 months, and the autosomal recessive disease was believed to arise from a

142 An autosomal recessive disease was found in 62.9% of patien

143 ty of SNPs as markers for large deletions in autosomal recessive diseases when only a single mutation

144 euronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is

145 ndelian Inheritance in Man 235510) is a rare autosomal recessive disease, which is associated with mu

146 Werner syndrome (WRN) is an uncommon autosomal recessive disease whose phenotype includes fea

147 g, using congenital hyperinsulinism (HI), an autosomal recessive disease, whose relatively high frequ

148 Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype tha

149 he CFTR gene lead to Cystic Fibrosis (CF)-an autosomal recessive disease with majority of the morbidi

150 -linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin syste

151 Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional ur

152 lved in this biosynthetic pathway trigger an autosomal recessive disease with severe neurological sym