ライフサイエンスコーパス: short stature

1 d/or endocrine dysfunction), infections, and short stature.

2 zygous state causes Laron syndrome involving short stature.

3 strabismus, cerebellar atrophy, and variable short stature.

4 e early childhood, learning disabilities and short stature.

5 cts, notably cardiopathies, dysmorphism, and short stature.

6 had congenital contractures, scoliosis, and short stature.

7 t likely account for the ovarian failure and short stature.

8 imately 2% of children are defined as having short stature.

9 ated with hypergonadotropic hypogonadism and short stature.

10 considered in some children with idiopathic short stature.

11 rdiopathies, facial dysmorphic features, and short stature.

12 erance, signs of mitochondrial myopathy, and short stature.

13 itability, followed by failure to thrive and short stature.

14 taphyses, reduction of long bone length, and short stature.

15 ability (ID) or developmental delay (DD) and short stature.

16 Two of four affected females have short stature.

17 terized by a short trunk, scoliosis and mild short stature.

18 , a below average intelligence quotient, and short stature.

19 d growth hormone unresponsiveness and severe short stature.

20 metaphyseal striations, and disproportionate short stature.

21 ls with a rare bone dysplasia causing severe short stature.

22 aracteristic of EvC and polydactyly, but not short stature.

23 l dystrophy, postaxial polydactyly, and mild short stature.

24 lectual disability, decreased fertility, and short stature.

25 g an uncharacterized developmental delay and short stature.

26 rtebral, carpal and tarsal fusions, and mild short stature.

27 oth elevated genetic relatedness and extreme short stature.

28 lage matrix, were associated with idiopathic short stature.

29 pportunity to identify new genetic causes of short stature.

30 of isolated as well as inherited idiopathic short stature.

31 luding facial dysmorphisms, microcephaly and short stature.

32 ere somewhat lower in multiparous women with short stature.

33 tations, such as osteoporosis, scoliosis and short statures.

34 t (14; 45%), cutaneous viral warts (7; 24%), short stature (4; 14%), limb lymphoedema (3; 10%), and b

35 TEE was not significantly different in short-stature (4753 +/- 761 kJ/d) compared with normal-s

36 The clinical effects of these mutations are short stature, a high incidence of joint contractures at

37 ht unrelated families that share features of short stature, a recognizable craniofacial gestalt, skel

38 Tbx1(-/-) mice display short stature, absence of hyoid bone, failed closure of

39 e neurodegenerative disease characterized by short stature, accelerated aging and short lifespan.

40 We studied 121 children with idiopathic short stature, all of whom had an initial height below t

41 Short stature also induces a faster heart rate, which in

42 manifested a mild skeletal phenotype with a short stature, although the structure of the articular j

43 etaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic

44 elopment, prominent forehead, hypertelorism, short stature and brachydactyly, is caused by mutations

45 ans, hypogonadism, hypothyroidism, alopecia, short stature and cardiomyopathy.

46 ossification, resulting in disproportionate short stature and clinically significant medical complic

47 However, additional features, such as short stature and cone epiphyses, also suggest an underl

48 female development with cardinal features of short stature and congenital cardiovascular defects (CHD

49 e of unknown cause, and encompasses familial short stature and constitutional delay of growth.

50 The 7-year-old boy had short stature and craniofacial malformations including m

51 The bal variant displays short stature and curled leaves due to the constitutive

52 ities including lentigines, cardiac defects, short stature and deafness.

53 s disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis.

54 g features, including cardiac abnormalities, short stature and facial dysmorphia.

55 nction and provide further insights into the short stature and GH deficits seen in children with NF1.

56 by dysmorphic facial features, proportionate short stature and heart disease (most commonly pulmonic

57 Most mut patients had short stature and higher percentage fat mass compared wi

58 nd demonstrate a causal relationship between short stature and higher risk of CTS.

59 tion presenting panmyelopathy accompanied by short stature and hyperpigmentation, now better known as

60 bidity and does not significantly affect the short stature and hypophosphatemia.

61 The short stature and impaired bone mineralization and stren

62 rdation during childhood is a determinant of short stature and impaired capacities in adults of devel

63 An association between short stature and increased risk of fatal and nonfatal c

64 n osteochondroprogenitors also caused severe short stature and intervertebral disc defects.

65 Turner syndrome is characterized by short stature and is frequently associated with a variab

66 x gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsuffic

67 s of treatment are also discussed, including short stature and leukemia.

68 function, hypothyroidism, male hypogonadism, short stature and mild to moderate developmental delay,

69 otably characterized by infantile hypotonia, short stature and morbid obesity, results from deficienc

70 Short stature and ovarian failure are characteristic fea

71 he severity of malnutrition in children with short stature and overestimated the severity of malnutri

72 overweight mother) and individual (stunting/short stature and overweight or anemia and overweight in

73 have long-lasting effects, and contribute to short stature and poor neurodevelopmental outcomes.

74 cessive skeletal dysplasia, characterized by short stature and postaxial polydactyly.

75 ding delayed ossification and low bone mass, short stature and short limbs.

76 ar to individuals with SCT as they exhibited short stature and similar skeletal abnormalities.

77 nsistent distinct phenotype characterized by short stature and skeletal and cardiac anomalies without

78 bserved similarity to the human phenotype of short stature and skeletal anomalies in a heterozygous B

79 esity, P for pulmonary involvement and S for short stature and skeletal dysplasia).

80 utations have been shown to cause idiopathic short stature and skeletal malformations frequently obse

81 rom -3.6 to -12 SD) associated with relative short stature and variable degree of intellectual disabi

82 All affected individuals had short stature and were developmentally delayed.

83 ith daughters exhibiting primary amenorrhea, short stature, and a 46,XX karyotype.

84 tic paraplegia resulting in muscle weakness, short stature, and cognitive defects.

85 ized by distinctive craniofacial appearance, short stature, and congenital heart disease.

86 coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defe

87 2 are variably associated with cleft palate, short stature, and developmental delay.

88 delay (DD), characteristic facial features, short stature, and distinct congenital malformations com

89 by intellectual disability, a cleft palate, short stature, and dysmorphic features.

90 which manifests in congenital heart disease, short stature, and facial dysmorphia.

91 KDM3B cause a syndrome characterized by ID, short stature, and facial dysmorphism.

92 l recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal a

93 al heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common como

94 s pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutat

95 obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism.

96 d to increase height prediction in boys with short stature, and in boys and girls with gonadotropin-i

97 ys and girls, in adolescents with idiopathic short stature, and in those who had a growth-limiting sy

98 , brachydactyly, craniofacial abnormalities, short stature, and neurological defects.

99 racterized by cardiac and skeletal myopathy, short stature, and neutropenia.

100 it is associated with adrenal insufficiency, short stature, and NK cell deficiency.

101 y and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges.

102 y bone deformity, dentinogenesis imperfecta, short stature, and shortened life span.

103 s as well as distinct craniofacial findings, short stature, and skeletal anomalies.

104 characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies.

105 lectual disability, developmental delay, and short stature, and that axonal guidance and dendritic pr

106 ntellectual disability, developmental delay, short stature, aphasia, and hypotonia in which homozygou

107 , microcephaly, intellectual disability, and short stature are associated with a mutation on the X ch

108 Developmental delay and short stature are common clinical indications for WES.

109 es found with accelerated growth rather than short stature as described previously.

110 growth hormone is commonly used to treat the short stature associated with this syndrome, a randomize

111 Short stature, auditory canal atresia, mandibular hypopl

112 , a SWI/SNF chromatin-remodeling subunit, in short stature, autism spectrum disorder, intellectual di

113 rtension (11 points); and paternal diabetes, short stature, black race, age 55 years or older, increa

114 sability, progressive spastic paraplegia and short stature, born to a consanguineous family.

115 syndrome (WMS) is a rare disorder displaying short stature, brachydactyly and joint stiffness, and oc

116 l anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features

117 lt height by 0.6 SD in adolescents with very short stature but substantially decreases bone mineral d

118 the NPR2 guanylyl cyclase both cause severe short stature, but how these two signaling systems inter

119 ians for only 9% of children with idiopathic short stature, but insurers would not cover GH for the v

120 f growth hormone to children with idiopathic short stature can increase adult height to a level above

121 Compared to candidates >=166 cm, "short stature" candidates had higher rates of death/deli

122 disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformatio

123 congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability.

124 ypogonadism, relative macrocephaly, moderate short stature, central obesity, unprovoked aggressive ou

125 ecessive skeletal dysplasia characterized by short stature, characteristic facial features, and in so

126 ongenital heart disease, is characterized by short stature, characteristic facies, learning problems

127 RMR of the short-stature children (3791 +/- 376 kJ/d) was not signi

128 me (SPG20), which has additional features of short stature, cognitive deficits and distal amyotrophy.

129 developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies

130 ding difference in three untreated normal or short-statured control groups.

131 11(D61G/+) embryos ( approximately 50%) have short stature, craniofacial abnormalities similar to tho

132 which most frequently include proportionate short stature, craniofacial anomalies, and congenital he

133 mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic,

134 l dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital

135 ies have only been designed and deployed for short-stature crops.

136 Affected males suffer short stature, deformation of the spine and hips, and de

137 c disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormal

138 mptoms, such as typical facial dysmorphisms, short stature, developmental delay, intellectual disabil

139 metaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities i

140 henotypes of this population (including very short stature) do not reflect an ancient African origin

141 er, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay-core f

142 ormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low cir

143 nt disorder that also features proportionate short stature, facial abnormalities, and an increased ri

144 omal dominant birth defect, characterized by short stature, facial abnormalities, heart defects and p

145 n syndrome is characterized by proportionate short stature, facial dysmorphia, increased risk of leuk

146 an syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects.

147 ecessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiogra

148 rogressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatars

149 utosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay,

150 .g., diabetes, constipation, cholelithiasis, short stature, failure to thrive).

151 lial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocy

152 of these patients include failure to thrive, short stature, feeding difficulties, developmental delay

153 e (BS) is a genetic disorder associated with short stature, fertility defects, and a predisposition t

154 l dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome") in a large, consanguineo

155 ic disease characterized by disproportionate short stature, fine and sparse hair, deficient cellular

156 height was a poor predictor of success, but short stature greatly raised the risk of being overtoppe

157 de that 1) the lower TBW and fat mass in the short-stature group is proportional to their lower FFM,

158 stitution in Stat5b that results in profound short stature, growth hormone insensitivity, and immunod

159 of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebra

160 We found that subjects with short stature had a greater global burden of copy-number

161 Women with short stature had lower maximal birth weight, and this w

162 y succession (e.g. towards late-successional short-statured hardwoods in Mediterranean forests and ta

163 unresponsiveness in children with idiopathic short stature have been nonproductive.

164 X-linked nonspecific mental retardation and short stature, have been mapped to Xp22.1.

165 which the cardinal clinical features include short stature, hearing loss, premature aging, telangiect

166 ated families with a novel syndrome known as Short stature, Hearing loss, Retinitis pigmentosa and di

167 ating neuropathy; premature ovarian failure; short stature; hearing loss; pigmentary maculopathy; and

168 enditure (TEE) by doubly labeled water in 15 short-stature (height-for-age < or = -1.5 SD) and 15 nor

169 nsity lipoprotein cholesterol concentration, short stature, high uric acid, age 55 years or older, hy

170 Adult traits varied along an axis from short-stature, high SLA and foliar N, and early flowerin

171 Patients with TRPS have short stature, hip abnormalities, cone-shaped epiphyses

172 d found that the transcription factor Shox2 (short stature homeobox 2) is expressed in subpopulations

173 ent study, we show that expression of Shox2 (Short stature homeobox 2) is higher in s.c. than viscera

174 or 3), ISL1 (ISL LIM homeobox 1), and SHOX2 (short stature homeobox 2).

175 The short stature homeobox gene SHOX is associated with idio

176 Mutations in the short stature homeobox gene SHOX lead to growth retardat

177 The short stature homeobox gene Shox2 is an important player

178 The SHOX (short stature homeobox) gene family consists of two clos

179 Defects in the short stature homeobox-containing gene (SHOX) in the pse

180 eletions encompassing the recently described short stature homeobox-containing gene SHOX segregating

181 3 (T-box transcription factor 3), and Shox2 (short-stature homeobox protein 2), have been identified,

182 lon polyps and soft tissue adenomas, whereas short-stature humans harboring an inactivating GH recept

183 lso induced in skin fibroblasts derived from short-statured humans with mutant GHR.

184 to have been simple terrestrial organisms of short stature (i.e. millimetres high).

185 However, in children with short stature (ie, height-for-age < 25th percentile), %I

186 ase (CKD) have impaired growth that leads to short stature in adulthood.

187 ralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism

188 age and explain why RC dysfunction can cause short stature in children with mitochondrial diseases.

189 loprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndr

190 obox gene SHOX is associated with idiopathic short stature in humans, as seen in Turner syndrome and

191 ion in limb length, corresponding to similar short stature in humans.

192 SDS did not improve over time, resulting in short stature in nearly half of transplanted children in

193 which contributes to the high prevalence of short stature in this population.

194 ative locus probably also contributes to the short stature in Turner individuals.

195 hormone therapy of children with idiopathic short stature increases height in some children.

196 py-number analysis for clinical indications, short stature increases the odds that a low-frequency de

197 Maternal short stature [Indonesia (OR: 2.32; 95% CI: 2.25, 2.40);

198 s with hypertrichosis cubiti associated with short stature, intellectual disability, and a distinctiv

199 h a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, o

200 identified an individual with microcephaly, short stature, intellectual disability, and heart defect

201 y a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly

202 The condition is characterized by short stature, intrauterine growth restriction, lipoatro

203 Short stature is a common pediatric disorder affecting 3

204 The lack of catch-up growth and resultant short stature is a critical issue for self-esteem and qu

205 This study sought to present evidence that short stature is a hemodynamic liability, which could ex

206 Short stature is a significant problem for many of these

207 Short stature is associated with a lower rate of lung tr

208 s relative to height in a population in whom short stature is highly prevalent.

209 Letrozole-treated boys with idiopathic short stature (ISS) had no loss of bone density but were

210 Idiopathic short stature (ISS) refers to a heterogeneous group of c

211 ts, whilst fibrillin-1 AD and GD have severe short stature, joint defects and thickened skin.

212 keletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative

213 DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossific

214 rn very preterm had 2.9 times higher odds of short stature (<155.4 cm), and those born moderately pre

215 4.5 per 100 person-years among candidates of short stature (<162 cm) and 202.0 per 100 person-years a

216 In particular, short stature (<5th percentile) was associated with ecze

217 ysplasia characterized by osteosclerosis and short stature, maps to chromosome 1q21.

218 a by which the novel syndrome of hyperphagic short stature may be recognised clinically.

219 ormalities of the hand and, less constantly, short stature, mental retardation and convulsions.

220 multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and

221 lity, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.

222 lving intellectual disability, proportionate short stature, microcephaly, and hypogonadism.

223 type, consisting of intellectual disability, short stature, microcephaly, lissencephaly, periventricu

224 me (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patellae.

225 the Andes or the Amazon, which suggests that short stature might be the result of adaptation to facto

226 Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hype

227 zed by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular def

228 This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiol

229 autosomal dominant disorder characterized by short stature, obesity, and skeletal defects, is associa

230 tal pups for 18 days was able to correct the short stature of Nf1col2(-/-) mice.

231 th autosomal recessive cerebellar ataxia and short stature of Norman type and localized to chromosome

232 nes in Spg20-/- mice, perhaps explaining the short stature of patients.

233 attractive candidate for involvement in the short stature of Turner syndrome.

234 and four subjects (from three families) with short stature of varied severity and spondylometaphyseal

235 her aimed to evaluate the impact of maternal short stature on these parameters.

236 t), and physician beliefs (ie, the impact of short stature on well-being, the effectiveness of GH the

237 les and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and h

238 of multiple haplotypes carrying alleles for short stature or long inflorescence branches.

239 tures often include faltering linear growth, short stature, or poor weight gain.

240 the growth plate, which eventually leads to short stature, osteopenia and fractures.

241 h cystinosis display renal Fanconi syndrome, short stature, osteopenia, and rickets.

242 Diverse problems such as dental anomalies, short stature, osteopenic bone disease, lactose intolera

243 l enamel hypoplasia, recurrent oral aphthae, short stature, osteoporosis, arthritis, neurologic probl

244 rinciple features of Turner syndrome include short stature, ovarian failure, and a variety of other a

245 These traits included short stature, ovarian failure, high-arched palate, and

246 Eczema is not associated with short stature overall.

247 SHORT syndrome - a disorder characterized by short stature, partial lipodystrophy, and insulin resist

248 growth hormone <6.7 microg/l) and idiopathic short stature (peak growth hormone >10 microg/l) underwe

249 rols (mean 8.4 years of age) with idiopathic short stature [peak growth hormone >10 microg/l (mean 15

250 nce of other congenital heart malformations, short stature, pectus deformity, cryptorchidism, and dev

251 34 US physician experts on the management of short stature (pediatric endocrinologists) with a respon

252 S/ERK1/2 modulation could also alleviate the short stature phenotype in NS caused by PTPN11 mutations

253 ficiency of SHOX was implicated to cause the short stature phenotype in Turner syndrome.

254 Our data suggest that a short stature phenotype of p/CIP gene-deleted mice refle

255 ngeal arches not only explains SHOX -related short stature phenotypes, but also for the first time pr

256 Further, short-statured phenotypes found in the present-day short

257 he treeline and snow line), characterized by short-stature plants and seasonal snow.

258 racterized by high systemic estrogen levels, short stature, prepubertal gynecomastia and testicular f

259 ary Rathke's cleft cysts, GH deficiency, and short stature provide a model to study human Rathke's cy

260 ato (Lycopersicon esculentum Mill.) exhibits short stature, reduced axillary branching, and altered l

261 f growth hormone to children with idiopathic short stature results in increases in growth rate and st

262 taracts and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiph

263 rmination but are mentally retarded and have short stature secondary to growth hormone (GH) deficienc

264 eatures included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and

265 -2.1 SDS) presented with failure to thrive, short stature, severe hypocalcemia and gross motor delay

266 utosomal recessive disorder characterized by short stature, short limbs, and craniofacial anomalies.

267 OD1) is a genetic condition characterized by short stature, shortened limbs, and facial dysmorphism.

268 Its short stature, simple growth requirements, and rapid lif

269 Achondroplasia is the most common short stature skeletal dysplasia, with an estimated worl

270 omelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have

271 lasia 1 (GPHYSD1), which is characterized by short stature, small hands and feet, and cardiac defects

272 he marsh edge, large wave stress allows only short-statured species.

273 old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disabilit

274 at CUL7, OBSL1, and CCDC8, all mutated in 3M short stature syndrome, form a centrosomal complex that

275 Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primor

276 Its deletion in patients with short stature, the predicted altered dosage in 45,X indi

277 wth and likely enables children with CKD and short stature to reach normal adult height.

278 l dominant genetic disorder characterized by short stature, unique facial features, and congenital he

279 facies, a wide spectrum of cardiac defects, short stature, variable cognitive impairment, and predis

280 ly display severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-d

281 lus), functional disability (mCSA and vBMD), short stature (vBMD), infliximab exposure (vBMD), and JI

282 Short stature was also associated with a 62% (95% CI, 24

283 After controlling for potential confounders, short stature was associated with a 34% (95% confidence

284 Mild short stature was common and one female had developmenta

285 Conversely, short stature was significantly related to death but not

286 notypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 fami

287 th a severe form of primary microcephaly and short stature, we identified compound heterozygous misse

288 trauterine growth retardation and subsequent short stature, we used single-strand conformation polymo

289 Early angiosperms were short-stature weedy plants thought to have increased fir

290 e functional traits (low specific leaf area, short stature) were replaced by species with resource-ac

291 p < 15th percentile (25.7%) in children with short stature, whereas the opposite trend was found in c

292 es causing RC dysfunction often present with short stature, which indicates that RC activity may be e

293 second cohort consisted of 50 children with short stature who had elevated circulating IGF-I concent

294 ecessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone

295 ical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogene

296 a (LD; OMIM 249700), characterized by severe short stature with hypoplasia/aplasia of the ulna and fi

297 Other explanations for the association of short stature with increased cardiovascular risk include

298 speech and global delay, an asthenic build, short stature with long fingers and mild kyphosis.

299 al features comprised hypogammaglobulinemia, short stature with microcephaly, cataract, and inner ret

300 dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shorteni