ライフサイエンスコーパス: dysmorphology

1 the joints, hypertrichosis, and craniofacial dysmorphology.

2 e phenotypes in heart, eye, and craniofacial dysmorphology.

3 Golgi trafficking with a clinically relevant dysmorphology.

4 stibular function, DNA repair, behavior, and dysmorphology.

5 f Down syndrome (DS), including craniofacial dysmorphology.

6 hat leads to selective growth inhibition and dysmorphology.

7 ders are associated with graded global brain dysmorphology.

8 ncal heart defects, cleft palate, and facial dysmorphology.

9 alate, conotruncal heart defects, and facial dysmorphology.

10 variants in the 8q24 region on human facial dysmorphologies.

11 ental disorder, and results in shared facial dysmorphologies.

12 f the BWC's organ of Corti revealed numerous dysmorphologies: 1) hair cells from the tall hair cell r

13 ina from E11.5, the neuroretina showed gross dysmorphology along with aberrant expression of markers

14 ciency, conotruncal heart defects and facial dysmorphology among others.

15 ations in the clarin-1 gene have hair bundle dysmorphology and a delay in synapse maturation.

16 ompanied by intellectual disability, autism, dysmorphology and gastrointestinal problems.

17 disorders (FASD) are often born with facial dysmorphology and may exhibit cognitive, behavioral, and

18 al to LIS1 may be responsible for the facial dysmorphology and other abnormalities seen in MDS but no

19 c marker, T-box 20, caused marked myocardial dysmorphology and perturbations in scar formation on myo

20 yos significantly increases the frequency of dysmorphology and severity of ciliopathy developmental d

21 tively screened retired breeders for surface dysmorphologies, and for intraocular defects by indirect

22 pmental defects including syndactyly, facial dysmorphology, and a mild defect in hard palate formatio

23 , correction of the ultrastructural synaptic dysmorphology, and correction of the hypothermia, metabo

24 hed features of the syndrome are PDA, facial dysmorphology, and fifth-finger clinodactyly.

25 the characteristic cry, speech delay, facial dysmorphology, and level of mental retardation (MR).

26 nnels result in mitochondrial Ca2+ overload, dysmorphology, and malfunction.

27 d class of human disorders with craniofacial dysmorphology as a common feature.

28 exposure in rats appears to produce similar dysmorphology as we have reported in the autistic human

29 ailed ophthalmic examination, accompanied by dysmorphology assessment where appropriate.

30 bit craniofacial defects and pituitary gland dysmorphology, but normal pituitary cell specification.

31 rtise in epidemiology, pediatrics, genetics, dysmorphology, clinical trials, and infectious diseases

32 ysfunction without normalizing mitochondrial dysmorphology, demonstrating a central role for mitochon

33 ficient cardiomyocyte mitochondria exhibited dysmorphology, depolarization, and reactive oxygen speci

34 signaling pathways involved in the observed dysmorphology following inactivation of RFC1-mediated fo

35 ctual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neuro

36 craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome.

37 ic acid (RA) induces various anatomical limb dysmorphologies in mice dependent on the time of exposur

38 7.5 dpc embryos and variable degrees of node dysmorphology in 7.75 dpc embryos suggested that the pat

39 e (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosi

40 ons of the MSO, and also reveals significant dysmorphology in five other SOC nuclei.

41 DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes.

42 the authors looked for evidence of striatal dysmorphology in patients with chronic cocaine dependenc

43 Indeed, we have demonstrated significant dysmorphology in the superior olivary complex (SOC), a c

44 c keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate.

45 ded DNA breaks, and induces profound nuclear dysmorphology, indicating that, in addition to its direc

46 aceted molecular pathophysiology: the facial dysmorphology may be due to pattern defects caused by ha

47 express wnt5b, and we show that two complex dysmorphologies - MB and cyclopia - can be promoted by e

48 sum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing l

49 segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show d

50 Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with

51 Dlg4(/) had subtle dysmorphology of amygdala dendritic spines and altered f

52 ed with thickening of the basement membrane, dysmorphology of basal processes, synaptic malformations

53 This phenotype is accompanied by a severe dysmorphology of the cartilaginous skeleton and failure

54 ere several human genetic diseases involving dysmorphology of the skeleton have been assigned, raises

55 At >1 year of age, these mice exhibit no dysmorphology or overt neurological problems.

56 haracterized by hypertrichosis, craniofacial dysmorphology, osteochondrodysplasia, patent ductus arte

57 an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardatio

58 demonstrates that measures of IQ and facial dysmorphology predict, to some degree, the structural br

59 We sought to determine whether the brain dysmorphology previously observed cross-sectionally in p

60 RP with systemic features, including facial dysmorphologies, psychomotor developmental delays recogn

61 gous for the Jag1 null allele exhibit an eye dysmorphology similar to that of Cm /+ heterozygotes, bu

62 rozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia.

63 r with repeated deprivation (RD-Alc), causes dysmorphology--thickened, beaded, and disoriented dendri

64 necting ELMOD1 deficiencies with stereocilia dysmorphologies thus establishes a link between the Ras

65 normal middle ear cavity and eustachian tube dysmorphology; thus, Eya4 regulation is critical for the

66 5S635; and the region associated with facial dysmorphology to 2.4 Mb in 5p15.2-15.31, between BACs co

67 Valve dysmorphology was associated with increased mesenchyme p

68 Although growth inhibition and gross dysmorphology were limited to the cerebellum, both alpha

69 clinical DS features, including craniofacial dysmorphology with a small mandible.

70 isorders represent the first true merging of dysmorphology with biochemical genetics.

71 omy 21 (Down syndrome) results in cerebellar dysmorphology with direct parallels in the Ts65Dn mouse.