ライフサイエンスコーパス: dysgenesis

1 leaving behind a dysplastic pole ("segmental dysgenesis").

2 ated with human sex reversal (46, XY gonadal dysgenesis).

3 within the MPW, is strongly related to focal dysgenesis.

4 e diarrhea secondary to enteroendocrine cell dysgenesis.

5 duals affected by syndromal anterior segment dysgenesis.

6 tochondrial translation in mammalian gonadal dysgenesis.

7 fy features consistent with focal testicular dysgenesis.

8 hybrid sterility syndrome termed P-M hybrid dysgenesis.

9 is associated with TGCTs in cases of gonadal dysgenesis.

10 ed less-severe coagulopathy without vascular dysgenesis.

11 asia, encephalocele, polydactyly and biliary dysgenesis.

12 nction, resulting in part from photoreceptor dysgenesis.

13 elements in their ability to repress hybrid dysgenesis.

14 emale germ line and for repression of hybrid dysgenesis.

15 maternal piRNA inheritance underlies hybrid dysgenesis.

16 sterile progeny, a phenomenon called hybrid dysgenesis.

17 strongly represses P-element-induced hybrid dysgenesis.

18 , microcornea, coloboma and anterior segment dysgenesis.

19 expressing the HSPG agrin have severe ocular dysgenesis.

20 ts including deafness and semicircular canal dysgenesis.

21 ts, but have little or no ability to repress dysgenesis.

22 ll1 gene results in renal agenesis or severe dysgenesis.

23 on, epilepsy, growth delay and cranio-facial dysgenesis.

24 ermination of nephrogenesis and severe renal dysgenesis.

25 h Tyr deficiency increasing the magnitude of dysgenesis.

26 reatening glomerular nephropathy and gonadal dysgenesis.

27 and iris hypoplasia, and trabecular meshwork dysgenesis.

28 f glaucomas associated with anterior segment dysgenesis.

29 , cognitive impairment and gonadal and renal dysgenesis.

30 gion of cortical volume loss adjacent to the dysgenesis.

31 ing pattern of sarcomere disorganization and dysgenesis.

32 I in patients with apparently focal cerebral dysgenesis.

33 not seem to confer increased risk for organ dysgenesis.

34 This causes a phenomenon known as I-R hybrid dysgenesis.

35 mixed apneas, likely because of hypoglossal dysgenesis.

36 een described in other syndromes of vascular dysgenesis.

37 pasticity by contributing to dendritic spine dysgenesis.

38 casionally cleft palate and anterior segment dysgenesis.

39 nic tubulin-associated disorders of cortical dysgenesis.

40 GC) than DBP-FW treatment; DBP-LW induces no dysgenesis.

41 ance of these cues results in CC agenesis or dysgenesis.

42 ith leaky SCID, Omenn syndrome, or reticular dysgenesis.

43 hotoreceptors in RP patients, albeit with OS dysgenesis.

44 been associated with anterior segment ocular dysgenesis.

45 genesis and genome instability during hybrid dysgenesis.

46 ve a 46,XY karyotype with partial testicular dysgenesis.

47 ressed in heart and brain may cause cerebral dysgenesis.

48 nd speak to the possible cause of XX ovarian dysgenesis.

49 hypoplasia correlates with mandibular artery dysgenesis.

50 ghts into microcephaly associated with brain dysgenesis.

51 he inheritance patterns of TEs during hybrid dysgenesis.

52 ring the MPW results in development of focal dysgenesis.

53 ere nonprogressive microcephaly and cerebral dysgenesis.

54 the developing eye leads to anterior segment dysgenesis.

55 a disorder characterized by anterior segment dysgenesis.

56 %), limbal dermoid (21.9%), anterior segment dysgenesis (15.2%), and keratoconus (14.3%).

57 ongenital syndromes characterized by gonadal dysgenesis.(22)(,)(23)(,)(24)(,)(25)(,)(26)(,)(27)(,)(28

58 ure (PFV, 13%; P = 0.8), or anterior segment dysgenesis (3%, P = 0.02) were considered as additional

59 to the fibrosis that often accompanies lens dysgenesis, a consideration for understanding organ syst

60 profound hematopoietic defects of reticular dysgenesis, a disease associated with mutations of the A

61 antisense constructs also repressed gonadal dysgenesis, a manifestation of P activity in the female

62 Human variants in AK2 cause reticular dysgenesis, a severe combined immunodeficiency with agra

63 f the P-element transposon during P-M hybrid dysgenesis, a syndrome that affects germline development

64 MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014

65 We show that P-M hybrid dysgenesis activates both P elements and resident transp

66 n associated predominant pattern of cortical dysgenesis allowing some phenotype-genotype correlation.

67 d deletion of the GDNF gene results in renal dysgenesis and abnormal development of the enteric nervo

68 equently experience development of sarcomere dysgenesis and altered cardiac geometry, and the heart f

69 associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard pala

70 range of defects including anterior segment dysgenesis and cataracts.

71 ied in a family with anterior segment ocular dysgenesis and cataracts.

72 gene was found to underlie anterior segment dysgenesis and cataracts.

73 und that mutant mice show kidney agenesis or dysgenesis and defective enteric innervation.

74 e play a role in the pathogenesis of nephron dysgenesis and dysfunction.

75 hanism, targeted by DBP that determines both dysgenesis and early (during the MPW) fetal Leydig cell

76 Eyes of nee mice exhibit anterior segment dysgenesis and early-onset glaucoma.

77 ems including nephropathy, blastoma, gonadal dysgenesis and genital discordance.

78 lomeric P elements repress P-induced gonadal dysgenesis and germ-line hypermutability in both sexes.

79 omolog FREAC3 is a candidate gene for ocular dysgenesis and glaucoma mapping to chromosome 6p25-pter,

80 icient testis lay the foundation for gonadal dysgenesis and infertility in adult mice and, potentiall

81 dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver

82 t-cortical dimple complex and focal cortical dysgenesis and its contribution to diagnosis.

83 gh number of premature infants with alveolar dysgenesis and lung dysplasia, and the accumulating evid

84 a marker for subtle cases of focal cortical dysgenesis and may be due to maldevelopment.

85 al abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a tran

86 r sex-reversed XY females, each with gonadal dysgenesis and other variable malformations, and with te

87 trong repressors of pupal lethality, gonadal dysgenesis and P-element-mediated mutability; however, i

88 gnaling, in Sertoli cells led to testis cord dysgenesis and proliferative defects similar to those of

89 ionship between motor neuron dendritic spine dysgenesis and SCI-induced spasticity.

90 recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss.

91 defects, including caudal regression, caudal dysgenesis and sirenomelia, are devastating conditions a

92 Mutations in SRY cause XY gonadal dysgenesis and somatic sex reversal.

93 ort the mechanistic basis of the hippocampal dysgenesis and the loss of pheromone responses, and show

94 unction relationship between dendritic spine dysgenesis and the presence of neuropathic pain.

95 ant risk groups include syndromes of gonadal dysgenesis and Ullrich-Turner syndrome.

96 umber of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this reg

97 aling, which results in optic disc and nerve dysgenesis and, ultimately, ocular coloboma.

98 d set of 2,016 genes associated with ciliary dysgenesis and/or dysfunction or cholestasis were priori

99 Mild biliary dysgenesis, and an early switch from proximal tubule to

100 athy, ischemic/thrombotic injuries, vascular dysgenesis, and blood-brain barrier (BBB) disruption wit

101 megaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, su

102 sia, irdiocorneal angle malformation, cornea dysgenesis, and cataract.

103 convoluted anterior neuroepithelium, caudal dysgenesis, and failure of chorioallantoic fusion.

104 well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.

105 velop severe motor-sensory defects, cortical dysgenesis, and microcephaly.

106 ing leaky SCID, Omenn syndrome, or reticular dysgenesis; and 3% had a history of enzyme replacement o

107 Tregs) and development of autoimmune ovarian dysgenesis (AOD) and autoimmune dacryoadenitis (ADA) in

108 d linkage of D3Tx-induced autoimmune ovarian dysgenesis (AOD) and its intermediate phenotypes, antiov

109 ls and the development of autoimmune ovarian dysgenesis (AOD) in A/J and (C57BL/6J x A/J)F(1) (B6AF(1

110 onatal thymectomy-induced autoimmune ovarian dysgenesis (AOD) is characterized by the development of

111 Autosomal Recessive Renal Tubular Dysgenesis (AR-RTD) is a fatal genetic disorder characte

112 Elevated IOP and anterior segment dysgenesis are two known risk factors for glaucoma.

113 sing human sex reversal (46, XY pure gonadal dysgenesis) are clustered in this domain.

114 rd development, including induction of focal dysgenesis, as described in TDS.

115 anaesthesia revealed ocular anterior segment dysgenesis (ASD) (Peters type iridocorneal dysgenesis) i

116 Anterior segment dysgenesis (ASD) disorders encompass a spectrum of devel

117 lmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence o

118 Ocular anterior segment dysgenesis (ASD) is a complex and poorly understood grou

119 ost common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary g

120 8 causes a wide spectrum of anterior segment dysgenesis (ASD), including microphthalmia, iris hypopla

121 bilitating disorders called Anterior Segment Dysgenesis (ASD).

122 involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans.

123 e 2 years progressing to atrophy and ovarian dysgenesis at puberty.

124 ts is intact during early stages of vascular dysgenesis before hemorrhage.

125 genital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenot

126 organs (e.g. penile hypospadias and prostate dysgenesis but normal testis), pointing to a role for Fk

127 Biliary dysgenesis, but not larval lethality, is driven primaril

128 rovide the first evidence for how testicular dysgenesis can result after normal testis differentiatio

129 he grave immunodeficiency syndrome reticular dysgenesis caused by loss of mitochondrial adenylate kin

130 Corpus callosum dysgenesis (CCD) is a congenital disorder that incorpora

131 Cerebral dysgenesis (CD) is associated with disruption of the nor

132 for the following features of focal cortical dysgenesis: cortical thickening, indistinct junction bet

133 loss of the anterior epithelium, fiber cell dysgenesis, denucleation defects, and cataracts.

134 Anterior segment dysgenesis describes a group of heterogeneous developmen

135 normally until E9.5 to E10.5, when placental dysgenesis developed.

136 mutation present in a patient of XX ovarian dysgenesis, diminish the association and functional syne

137 We propose that human caudal dysgenesis disorders may result from dysregulation of he

138 Peters anomaly of the eye (anterior segment dysgenesis), disproportionate short stature, brachydacty

139 Clinically observed dysgenesis does not correlate with IOP, however, and the

140 experienced a time-specific and time-limited dysgenesis during this time.

141 Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range f

142 trophy syndrome in Drosophila called gonadal dysgenesis (GD).

143 with glaucoma secondary to anterior segment dysgenesis had patent episcleral vessels.

144 past puberty have been reported, and ovarian dysgenesis has not previously been associated with this

145 ibit profound defects, including hippocampal dysgenesis, hydrocephalus, chronic infections and inflam

146 n 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex de

147 r and hippocampal atrophy in 1, and cortical dysgenesis in 1.

148 C3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients.

149 versing 9p deletion, suggesting that gonadal dysgenesis in 9p-deleted individuals might be due to com

150 These findings demonstrate that caudal dysgenesis in acd embryos is secondary to p53-dependent

151 Testicular dysgenesis in activin betaA and Smad4 conditional knocko

152 AK1 to reduce spasticity and dendritic spine dysgenesis in an SCI mouse model.

153 In many cases of callosal dysgenesis in both human patients and mouse models, misg

154 astroglial migration underlies the callosal dysgenesis in conditional Fgfr1 knockout mice, suggestin

155 The more severe testis dysgenesis in DBP-MPW animals may result from the presen

156 Hybrid dysgenesis in Drosophila is a syndrome of gonadal atroph

157 Known examples of hybrid dysgenesis in Drosophila melanogaster result from mobili

158 An example of hybrid dysgenesis in Drosophila virilis is unique in that multi

159 However, we found that in P-M hybrid dysgenesis in Drosophila, a sterility syndrome triggered

160 and we previously identified coronal suture dysgenesis in embryonic Hhip-/- mice, in which suture me

161 The severe dysgenesis in eyes lacking both CYP1B1 and TYR was allev

162 d for repression of P-strain-induced gonadal dysgenesis in females and for repression of transposase-

163 recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both ma

164 th normal spine development as well as spine dysgenesis in FXS, highlighting the importance of super-

165 each cause adrenal insufficiency and gonadal dysgenesis in humans, although the pathological features

166 nt cataract and anterior segment mesenchymal dysgenesis in humans.

167 se activation underlies the anterior segment dysgenesis in lama1 mutants.

168 tter atrophy), visual impairment, testicular dysgenesis in males and sudden death at infant age by br

169 d as a potential cause of age-related tissue dysgenesis in mammals.

170 ated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka.

171 Tyr also modified the drainage structure dysgenesis in mice with a mutant Foxc1 gene, which is al

172 urofibromatosis type 1 syndrome, causes lens dysgenesis in mouse.

173 ping murine hippocampus and that hippocampal dysgenesis in nor-1-/- mice may be an underlying cause o

174 ant that is useful for investigating gonadal dysgenesis in phenotypic female patients with the 46, XY

175 In contrast, adult-onset ciliary dysgenesis in POMC neurons causes no significant change

176 tion that represses P-element-induced hybrid dysgenesis in the Drosophila germ line.

177 ticising chemical known to induce testicular dysgenesis in vivo in rats).

178 t dysgenesis (ASD) (Peters type iridocorneal dysgenesis) in combination with congenital limbal stem c

179 iner/Tc1 elements can be mobilized in hybrid dysgenesis; in particular, certain dysgenic crosses in D

180 0.05), but did not enhance features of focal dysgenesis including number of ITLCs (0.07 vs 0.10 cells

181 Seventy-one patients had cortical dysgenesis, including 27 with cellular proliferation abn

182 anomalies in humans, including 46,XY gonadal dysgenesis, indicating that WT1 plays a critical role in

183 family history of testicular cancer, gonadal dysgenesis, infertility, cannabis use, and genetic condi

184 tory of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT and a

185 Focal dysgenesis is a consistent feature of testicular dysgene

186 rve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising fr

187 Reticular dysgenesis is an autosomal recessive form of severe comb

188 e that anomalous brain circuitry of callosal dysgenesis is determined by long-distance plasticity, a

189 How antiquitin dysfunction leads to cerebral dysgenesis is unknown.

190 fetal taurine deprivation can cause cortical dysgenesis, it is possible that taurine influences neoco

191 cohort, MR imaging showed signs of cortical dysgenesis leading to congenital brain malformations suc

192 Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndr

193 easure was related to objectively quantified dysgenesis (Leydig cell aggregation) at e21.5 in male fe

194 However, DBP-induced focal testicular dysgenesis (Leydig cell aggregation, ectopic Sertoli cel

195 p107 in the gonadal soma resulted in ovarian-dysgenesis-like phenotypes.

196 tomical marker for autism, nor is cerebellar dysgenesis likely to be solely responsible for clinical

197 halmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibrom

198 e hippocampal injury and that focal cortical dysgenesis may play a role in the etiology of febrile co

199 rojection defects as well as dendritic spine dysgenesis may underlie disease pathogenesis.

200 Muscular dysgenesis (mdg/mdg), a mutation of the skeletal muscle

201 amma(1), we examined the channel in muscular dysgenesis mice.

202 In both P- and I-element-mediated hybrid dysgenesis models, daughters show a markedly different c

203 ntly associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis.

204 nd provide a molecular basis for the gonadal dysgenesis observed in ataxia telangiectasia, the human

205 In families where anterior segment dysgenesis occurs together with cerebral hemorrhages, ge

206 r pigmented neuroectodermal disorganization, dysgenesis of angle structures, and a hypoplastic or dis

207 e, a developmental disorder characterized by dysgenesis of corpus callosum.

208 subset of HPE patients exhibits preferential dysgenesis of forebrain dorsal midline structures with u

209 in individuals with 46,XX sex reversal with dysgenesis of kidney, adrenals and lungs (SERKAL) syndro

210 e FGF superfamily, caused agenesis or severe dysgenesis of kidney, lung, specific cutaneous structure

211 Extinguished SALL1 expression and marked dysgenesis of nephron structures were observed in the ru

212 me) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (includi

213 s is consistent with widespread agenesis and dysgenesis of organs observed in Fgf10-/- mice.

214 Dysgenesis of the anterior segment of the eye delineates

215 Mutations in this gene cause dysgenesis of the anterior segment of the eye, most comm

216 Complete lack of type VIII collagen leads to dysgenesis of the anterior segment of the eye: a globoid

217 uptions and coarctations of the aortic arch, dysgenesis of the aortic and pulmonary valves, ventricul

218 d by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypopl

219 Axon pathfinding defects included dysgenesis of the corpus callosum and hippocampal commis

220 Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype of

221 ormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pelluci

222 ncluding hypoplasia of oculomotor nerves and dysgenesis of the corpus callosum, anterior commissure,

223 iring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hyp

224 history of perinatal distress have prenatal dysgenesis of the developing brain.

225 e identified agenesis of the superior olive, dysgenesis of the facial nucleus, reduced numbers of Pur

226 plexus and are subject to agenesis or severe dysgenesis of the kidneys.

227 is appears to be attributable to agenesis or dysgenesis of the majority of RHT-projecting retinal gan

228 strated myriad malformations associated with dysgenesis of the pars inferior of the otocyst.

229 owth factor receptor are involved in biliary dysgenesis of the PCK rat, with the mechanisms of cyst p

230 signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature.

231 h (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inhe

232 monogenic disease (sudden infant death with dysgenesis of the testes syndrome), a rare complex disea

233 observed the development of dendritic spine dysgenesis on alpha-motor neurons associated with spasti

234 hyperexcitability, decreased dendritic spine dysgenesis on alpha-motor neurons, and elevated the expr

235 the presence of SCI-induced dendritic spine dysgenesis on alpha-motor neurons.

236 set open-angle glaucoma (JOAG) without angle dysgenesis on gonioscopy.

237 nockdown reduced presence of dendritic spine dysgenesis on motor neurons.

238 Encountering a patient with lacrimal dysgenesis or agenesis is not an uncommon occurrence in

239 inflammatory mediators that cause keratocyte dysgenesis or apoptosis.

240 eate HISR-D or HISR-N lines that still cause Dysgenesis or are Non-dysgenic, respectively.

241 er to detect than other features of cortical dysgenesis or contributed directly to the MR imaging dia

242 FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women,

243 direct evidence has been produced that links dysgenesis per se to somatic cell dysfunction, in partic

244 nvestigated mechanisms leading to the caudal dysgenesis phenotype of acd mutant embryos.

245 ound to worsen the drainage structure/ocular dysgenesis phenotype of Cyp1b1-/- mice, suggesting that

246 of highly penetrant, ocular anterior segment dysgenesis phenotypes.

247 rk reveals a genetic link between testicular dysgenesis, pluripotency regulation, and teratoma suscep

248 insufficiency, and in the liver with biliary dysgenesis, portal tract fibrosis, and portal hypertensi

249 s been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significan

250 ermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunode

251 a13/Delta13) mice display severe hippocampal dysgenesis, reduced synaptic functionality and impaired

252 ll infants with leukocoria, anterior segment dysgenesis, retinal detachment and retinal dysplasia.

253 rmalities included anterior segment and lens dysgenesis, retinal folds, chorioretinal coloboma, and P

254 of neonatal neutropenia, including reticular dysgenesis, Schwachman-Diamond syndrome, Kostmann syndro

255 n the left eye leukoma with anterior segment dysgenesis, shallow anterior chamber, and cataract were

256 AK2 mutation and demonstrate that reticular dysgenesis should be considered in Amish individuals pre

257 letal abnormalities, including pelvic girdle dysgenesis, skull bone fusions and polydactyly.

258 The testicular dysgenesis syndrome (TDS) hypothesis proposes that malde

259 enesis is a consistent feature of testicular dysgenesis syndrome (TDS) in humans.

260 pting chemicals may contribute to testicular dysgenesis syndrome (TDS), a proposed constellation of i

261 lar cancer, they can constitute a testicular dysgenesis syndrome (TDS).

262 and is used as a model for human testicular dysgenesis syndrome (TDS).

263 ine disruption and the associated testicular dysgenesis syndrome (TDS).

264 ession might be responsible for the observed dysgenesis syndrome and the simultaneous mobilization of

265 ght also be associated with other testicular dysgenesis syndrome disorders, namely cryptorchidism and

266 A hybrid dysgenesis syndrome occurs in Drosophila virilis when ma

267 single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), ca

268 of primitive gonad and results in testicular dysgenesis syndrome, which may result in infertility and

269 normalities, neural tube defects, and caudal dysgenesis syndromes.

270 The pathogenesis of thyroid dysgenesis (TD) is not well understood.

271 tal abnormalities otherwise known as thyroid dysgenesis (TD).

272 scular malformations, pancreas and diaphragm dysgenesis that arise in patients with distinct GATA6 va

273 trate a novel pathogenic mechanism for renal dysgenesis that may explain how putative activating muta

274 Patterns of brain dysgenesis that resemble those in the Zellweger syndrome

275 renia suggest that the more severe the brain dysgenesis, the earlier the onset of psychotic symptoms.

276 In all known examples of hybrid dysgenesis, the paternal germ line transmits the TEs in

277 ents may also transmit an ability to repress dysgenesis to their offspring independently of the telom

278 zzle, we investigated patients with callosal dysgenesis using structural and functional neuroimaging,

279 Dysgenesis was also negatively correlated (R(2) = -0.5)

280 Dysgenesis was found only in animals exposed to DBP duri

281 Complete ventricular dysgenesis was observed in Nkx2.5(-/-)dHAND(-/-) mutants

282 Cortical dysgenesis was seen in the form of deep laminar cell los

283 terogenous presentations of anterior segment dysgenesis was seen.

284 ITX2, and FOXC1) related to anterior segment dysgenesis were downregulated.

285 i sensitizing C57BL/6J mice to agrin-induced dysgenesis were identified.

286 Features of focal testicular dysgenesis were present in re-aggregated testis, includi

287 ilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdelet

288 sp/CP) transgenes are able to induce gonadal dysgenesis when the transposase they encode has P-elemen

289 nosis of Frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulo

290 over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotyp

291 with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of se

292 Dax1 in mice also reveals primary testicular dysgenesis, which is manifest by obstruction of the rete

293 mics in samples from patients with reticular dysgenesis with a CRISPR model of this disorder in prima

294 association of Zellweger syndrome-like brain dysgenesis with a defect of a single peroxisomal enzyme

295 rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending

296 Mutations in SRY cause 46 XY gonadal dysgenesis with female somatic phenotype (Swyer syndrome

297 Mutations in SRY cause gonadal dysgenesis with female somatic phenotype.

298 Ovarian follicles exhibited structural dysgenesis with granulosa and cumulus cell layers becomi

299 ient retinal organoids showed photoreceptors dysgenesis, with rod photoreceptors displaying stunted o

300 XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous