ライフサイエンスコーパス: autosomal

1 ome and massive introgression of A. coluzzii autosomal alleles.

2 e that the Guanches have contributed 16%-31% autosomal ancestry to modern Canary Islanders, here repr

3 rate < 0.1), in comparison to zero of 18,055 autosomal and PAR genes (Fisher's exact P < 0.0001).

4 ng high-resolution genetic variation data on autosomal and uniparental loci (Y-chromosomal and mitoch

5 It can accurately visualize autosomal and X-linked haplotypes from both outbred and

6 inland, which contrasts with the distinctive autosomal and Y-chromosomal diversity among Finns.

7 between the two groups in the composition of autosomal as well as mtDNA, X chromosome, and Y chromoso

8 Factor XI (FXI) deficiency is an autosomal bleeding disorder, usually posttrauma or posts

9 in alphaB-crystallin have been implicated in autosomal cataracts and skeletal myopathies, including h

10 es, demonstrating functional compensation of autosomal chromatin.

11 hors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, b

12 .05 x 10(-8) per base pair per generation in autosomal coding sequence, with a corresponding non-cros

13 We analyzed genome-wide autosomal common variants from the Psychiatric Genomics

14 ver, molecular genetic analyses suggest that autosomal common variants largely do not explain the sex

15 etermine the detailed structure of all major autosomal complex satDNA loci in Drosophila melanogaster

16 e, we use Y-chromosome markers combined with autosomal data to reconstruct population expansions from

17 cement of 1.688(X) repeats opposite a lethal autosomal deletion achieves partial rescue of males, dem

18 Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in N

19 ITD is a rare autosomal disorder that, if not treated promptly in infa

20 Autosomal dominance with incomplete penetrance is the mo

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

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

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

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

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

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

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

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

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

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

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

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

33 lecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked

34 pulmonary arterial hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is onl

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

36 domains of transcription factors can lead to autosomal dominant diseases.

37 Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature ca

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

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

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

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

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

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

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

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

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

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

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

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

50 Autosomal dominant epilepsy with auditory features resul

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

75 Autosomal dominant mutations in STING are thought to tri

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

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

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

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

80 Autosomal dominant North Carolina macular dystrophy (NCM

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

82 Inheritance is either autosomal dominant or autosomal recessive.

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

84 6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder.

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

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

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

88 Autosomal dominant polycystic kidney disease (ADPKD) con

89 Autosomal Dominant Polycystic Kidney Disease (ADPKD) is

90 Autosomal dominant polycystic kidney disease (ADPKD) is

91 Autosomal dominant polycystic kidney disease (ADPKD) is

92 Autosomal dominant polycystic kidney disease (ADPKD) is

93 Autosomal dominant polycystic kidney disease (ADPKD) is

94 Autosomal dominant polycystic kidney disease (ADPKD) is

95 Autosomal dominant polycystic kidney disease (ADPKD) is

96 Autosomal dominant polycystic kidney disease (ADPKD) is

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

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

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

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

101 Autosomal dominant polycystic kidney disease is caused b

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

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

104 Furthermore, autosomal dominant polycystic kidney disease-associated

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

128 mechanism of inheritance was concluded to be autosomal dominant.

129 Autosomal-dominant adult-onset neuronal ceroid lipofusci

130 Cerebral autosomal-dominant arteriopathy with subcortical infarct

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

148 tations have been shown to co-segregate with autosomal dominantly inherited coloboma.

149 Huntington disease (HD) is an autosomal dominantly inherited disease that exhibits gen

150 and documented in vivo, balances X gene with autosomal gene output.

151 By contrast, autosomal genes encoding major agonist ILPs that promote

152 tide polymorphisms (SNPs) in 151 Wnt pathway autosomal genes with CM-specific survival and then valid

153 ee regions in particular possess distinctive autosomal genetic signatures indicative of likely refugi

154 (th)-11(th) centuries CE) yielded sufficient autosomal genome coverage (0.21x to 3.93x) for populatio

155 events probably involving translocations of autosomal genome regions causing multiple genes to becom

156 plete mitochondrial genomes and low-coverage autosomal genomes show that the analyzed individuals fal

157 ever, to date there are no published Guanche autosomal genomes to help elucidate and directly test th

158 levels of FXR1 (fragile X mental retardation autosomal homolog 1), an RNA-binding protein, are critic

159 five genes include all paternally expressed autosomal imprinted genes previously demonstrated to be

160 und extensive allele-specific mCH and mCG at autosomal imprinted regions, some with a negative correl

161 compensation to genes nearby and report that autosomal integration of 1.688(X) repeats increases MSL

162 onosomy of chromosome 7 is the most frequent autosomal monosomy in acute myeloid leukemia (AML), wher

163 r than anticipated frequency of large clonal autosomal mosaic events >2 Mb in size in the aging popul

164 ar Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mutations in

165 romosomes still show clear evidence of their autosomal origins, but most genes on old Y-chromosomes a

166 tend to be somatically male-biased, whereas autosomal ovary-biased miRNAs are female-biased, possibl

167 feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ).

168 dney failure in a Col4a3(-/-) mouse model of autosomal recessive Alport syndrome and increased protei

169 bout 3% of hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomye

170 Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AE

171 ular tachycardia type 2 (CPVT2) results from autosomal recessive CASQ2 mutations, causing abnormal Ca

172 Thus, autosomal recessive CD70 deficiency is a novel cause of

173 rithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts.

174 orithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, pro

175 bellar ataxia Type 5 and spectrin-associated autosomal recessive cerebellar ataxia Type 1 pathology l

176 ellar ataxia Type 5, and spectrin-associated autosomal recessive cerebellar ataxia Type 1, but molecu

177 ficity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding

178 t of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia.

179 d following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clin

180 Differential diagnosis of autosomal recessive cerebellar ataxias can be challengin

181 icting the underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding

182 A novel autosomal recessive cerebro-renal syndrome was identifie

183 h the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy.

184 ing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia

185 Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the

186 MMS is an autosomal recessive condition described thus far in only

187 e Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by cr

188 al recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however,

189 dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two w

190 PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and

191 Autosomal recessive congenital ichthyosis is a heterogen

192 be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin

193 pholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mecha

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

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

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

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

198 Cystic fibrosis (CF) is an autosomal recessive disorder affecting the cystic fibros

199 Farber disease is a rare autosomal recessive disorder caused by acid ceramidase d

200 sporter Deficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function

201 Achromatopsia is an autosomal recessive disorder characterized by cone photo

202 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloder

203 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-as

204 Cockayne syndrome is an autosomal recessive disorder principally characterized b

205 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid

206 Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme defici

207 s work is to identify the molecular cause of autosomal recessive early onset retinal degeneration in

208 an kinase PINK1 (hPINK1) are associated with autosomal recessive early-onset Parkinson's disease (PD)

209 Parkin is associated with autosomal recessive early-onset PD, and controls the tra

210 syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extr

211 Autosomal recessive erythropoietic protoporphyria (EPP)

212 cator of cytokinesis 8 (DOCK8) gene cause an autosomal recessive form of hyper-IgE syndrome, characte

213 ning protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual disability.

214 The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or co

215 Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest preva

216 enital tufting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with charac

217 on disease characterized by a non-BS, non-GS autosomal recessive hypokalemic-alkalotic salt-losing ph

218 ification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predomi

219 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism character

220 of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition

221 isease causing variants following a model of autosomal recessive inheritance led to the identificatio

222 Assuming autosomal recessive inheritance, we identify 27 genes th

223 in this Iranian cohort were consistent with autosomal recessive inheritance.

224 Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the

225 Autosomal recessive inherited neurodevelopmental disorde

226 ate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness synd

227 g protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), th

228 ncy is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8.

229 he direct cause of type IV mucolipidosis, an autosomal recessive lysosomal storage disease.

230 coding 11beta-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex s

231 Exome sequencing identified an autosomal recessive mutation leading to an amino acid su

232 n canary (Serinus canaria), which carries an autosomal recessive mutation that renders its plumage pu

233 However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia m

234 In humans, autosomal recessive mutations in both genes cause simila

235 Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) caus

236 We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kind

237 The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However,

238 uropean populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) ge

239 Here, we report an unusual autosomal recessive neurodegenerative condition, best cl

240 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by

241 ons in three of four human VPS13 genes cause autosomal recessive neurodegenerative or neurodevelopmen

242 and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative

243 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized

244 -2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a

245 Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leadin

246 Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is cause

247 ers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetyp

248 Autosomal recessive osteopetrosis (ARO) is a heterogeneo

249 dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients).

250 mboembolic disease; the disorder followed an autosomal recessive pattern of inheritance.

251 Autosomal recessive polycystic kidney disease (ARPKD) is

252 Autosomal recessive polycystic kidney disease (ARPKD), u

253 -wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1

254 Here we describe an autosomal recessive presynaptic congenital myasthenic sy

255 This allows for emergence of many autosomal recessive primary immunodeficiency diseases.

256 Autosomal recessive primary microcephaly (MCPH) is a rar

257 nic brain and is mutated in individuals with autosomal recessive primary microcephaly.

258 Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and auto

259 nd describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can

260 halmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod

261 nce was associated with RP progression, with autosomal recessive RP progressing at 148 mum/year and a

262 nhancing protein 6, in several families with autosomal recessive RP.

263 nel beta 1 (CNGB1) cause approximately 4% of autosomal recessive RP.

264 ima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet med

265 The neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguena

266 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguena

267 omal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephro

268 describe here eight related individuals with autosomal recessive TIRAP deficiency.

269 ablished in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7

270 Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized b

271 iemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage

272 Autosomal recessive, partial GINS1 deficiency impairs DN

273 Inheritance is either autosomal dominant or autosomal recessive.

274 Grange syndrome is an autosomal-recessive condition characterized by severe an

275 type 1.3 (CaV1.3) and is defective in human autosomal-recessive deafness 93 (DFNB93).

276 rent phenotypic consequences for a recurrent autosomal-recessive deletion mutation in revealing the g

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

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

279 Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, of

280 Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects

281 utant allele might also play a role in other autosomal-recessive disorders, in which only one heteroz

282 identified as the cause of certain forms of autosomal-recessive intellectual disability (ID).

283 Autosomal-recessive juvenile Parkinsonism (AR-JP) is cau

284 iants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we sugg

285 In this study we demonstrate that (i) autosomal-recessive mutations in POLR3A are a frequent c

286 SPG23 is an autosomal-recessive neurodegenerative subtype of lower l

287 Mutations in CSB are associated with the autosomal-recessive neurological disorder Cockayne syndr

288 plicating CEP19, which is associated with an autosomal-recessive obesity syndrome when mutated, in th

289 Autosomal-recessive omodysplasia (OMOD1) is a genetic co

290 Here we report four autosomal-recessive pathogenic mutations in the gene enc

291 Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by

292 ansmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically.

293 Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the

294 anguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manife

295 show that the deficiency of Rpl10l, a murine autosomal retrogene of Rpl10 with testis-specific expres

296 t into the evolution of X-chromosome-derived autosomal retrogenes and their role in male fertility.

297 elating the function of X-chromosome-derived autosomal retrogenes with evolutionary forces remains li

298 novel and literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic

299 bias is coordinated across tissues such that autosomal testis-biased miRNAs tend to be somatically ma

300 Here we present genome-wide autosomal, Y chromosome, and mitochondrial DNA data from