ライフサイエンスコーパス: short stature

1 oth elevated genetic relatedness and extreme short stature.

2 rdiopathies, facial dysmorphic features, and short stature.

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

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

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

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

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

8 d growth hormone unresponsiveness and severe short stature.

9 lage matrix, were associated with idiopathic short stature.

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

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

12 pportunity to identify new genetic causes of short stature.

13 hosocial stress has been termed psychosocial short stature.

14 of isolated as well as inherited idiopathic short stature.

15 luding facial dysmorphisms, microcephaly and short stature.

16 ere somewhat lower in multiparous women with short stature.

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

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

19 zygous state causes Laron syndrome involving short stature.

20 strabismus, cerebellar atrophy, and variable short stature.

21 e early childhood, learning disabilities and short stature.

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

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

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

25 ated with hypergonadotropic hypogonadism and short stature.

26 considered in some children with idiopathic short stature.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

51 The short stature and impaired bone mineralization and stren

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

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

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

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

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

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

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

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

60 Short stature and ovarian failure are characteristic fea

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

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

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

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

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

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

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

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

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

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

71 utosomal dominant condition characterized by short stature and the development of bony protuberances

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

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

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

75 2 are variably associated with cleft palate, short stature, and developmental delay.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

94 Short stature, auditory canal atresia, mandibular hypopl

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

112 11(D61G/+) embryos ( approximately 50%) have short stature, craniofacial abnormalities similar to tho

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

148 The short stature homeobox gene SHOX is associated with idio

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

150 The short stature homeobox gene Shox2 is an important player

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

172 Short stature is a common pediatric disorder affecting 3

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

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

175 Short stature is a significant problem for many of these

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

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

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

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

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

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

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

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

184 4.5 per 100 person-years among candidates of short stature (<162 cm) and 202.0 per 100 person-years a

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

210 Eczema is not associated with short stature overall.

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

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

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

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

215 34 US physician experts on the management of short stature (pediatric endocrinologists) with a respon

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

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

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

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

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

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

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

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

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

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

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

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

228 -2.1 SDS) presented with failure to thrive, short stature, severe hypocalcemia and gross motor delay

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

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

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

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

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

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

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

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

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

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

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

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

241 Mild short stature was common and one female had developmenta

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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