ライフサイエンスコーパス: craniofacial abnormality

1 ume likely reflects a specific developmental craniofacial abnormality.

2 was sufficient to create severe cardiac and craniofacial abnormalities.

3 d by multiple congenital anomalies including craniofacial abnormalities.

4 Mutations in many cilia proteins result in craniofacial abnormalities.

5 r gene develop pigmentary defects and severe craniofacial abnormalities.

6 rome, which is characterized by skeletal and craniofacial abnormalities.

7 lly presenting with both cardiac disease and craniofacial abnormalities.

8 ariety of congenital birth defects including craniofacial abnormalities.

9 to tooth misalignment, bone remodeling, and craniofacial abnormalities.

10 l crest cell (NCC) development explains RCPS craniofacial abnormalities.

11 0p13-p14 that is associated with cardiac and craniofacial abnormalities.

12 the neural field followed by neural tube and craniofacial abnormalities.

13 defective melanocyte function, deafness, and craniofacial abnormalities.

14 road and bowed long bones, narrow thorax and craniofacial abnormalities.

15 TCH-22 syndrome with aortic arch defects and craniofacial abnormalities.

16 function mutations which cause skeletal and craniofacial abnormalities.

17 tations in FGFR associated with skeletal and craniofacial abnormalities.

18 Craniofacial abnormalities account for about one-third o

19 Craniofacial abnormalities also occur in a number of hum

20 ex chromosomal translocations: The first had craniofacial abnormalities and an apparently balanced t(

21 c developmental defects, including dwarfism, craniofacial abnormalities and brachymesophalangy, pheno

22 der(22) syndrome include mental retardation, craniofacial abnormalities and congenital heart defects.

23 to (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) o

24 recessive disorder with growth retardation, craniofacial abnormalities and limb reduction.

25 t, and suppression of the latter led to both craniofacial abnormalities and neuronal apoptosis.

26 Both craniofacial abnormalities and obesity have been observe

27 ntain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity.

28 in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in

29 mbryonic development, including lymphopenia, craniofacial abnormalities, and cardiac defects, similar

30 its growth, is a common (1 in 2,500 births) craniofacial abnormality, approximately 20% of which occ

31 Craniofacial abnormalities are one of the most common bi

32 ical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion

33 cific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrom

34 ion of neural crest cells while rescuing the craniofacial abnormalities associated with mutations in

35 DGS/VCFS patients have craniofacial abnormalities, cardiac outflow defects and

36 milies in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound

37 In this study, we investigated the craniofacial abnormalities in a mouse model for Keutel s

38 s that BARX2 may be causally involved in the craniofacial abnormalities in Jacobsen syndrome.

39 aploinsufficiency of Rai1 causes obesity and craniofacial abnormalities in mice.

40 l subjects; (4) although there were no major craniofacial abnormalities in most of the adolescents wi

41 ypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1

42 types such as the accompanying syndactyly or craniofacial abnormalities in the majority of affected i

43 Tooth agenesis is a common craniofacial abnormality in humans and represents failur

44 ss of THAP11 in zebrafish embryos results in craniofacial abnormalities including the complete loss o

45 ) and Ets1(+/-)Fli1(+/-) mice also displayed craniofacial abnormalities, including a small middle ear

46 platelet-derived growth factor (Pdgf) causes craniofacial abnormalities, including cleft palate.

47 mice as a model system that exhibits severe craniofacial abnormalities, including cleft secondary pa

48 in neural crest demonstrate fully penetrant craniofacial abnormalities, including microcephaly, clef

49 Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the

50 Craniofacial abnormality is one of the major clinical ma

51 n, where polysyndactyly, in combination with craniofacial abnormalities, is also part of a common gen

52 S phenotypes by identifying uncharacteristic craniofacial abnormalities not found in individuals with

53 ls are underweight and do not have seizures, craniofacial abnormalities, or reduced fertility.

54 hedgehog (Shh) signaling results in similar craniofacial abnormalities prompted us to examine whethe

55 ng degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the f

56 enic to the SMS common deletion, and exhibit craniofacial abnormalities, seizures and marked obesity,

57 Df(11)17/+ mice exhibit craniofacial abnormalities, seizures, marked obesity, an

58 cluding retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologi

59 d results in impaired thymic development and craniofacial abnormalities similar to the group of clini

60 yos ( approximately 50%) have short stature, craniofacial abnormalities similar to those in Noonan sy

61 pes, including gastrulation defects, complex craniofacial abnormalities such as cyclopia, and defects

62 Mice lacking a functional Rspo2 gene exhibit craniofacial abnormalities such as mandibular hypoplasia

63 al growth delay with reduced body weight and craniofacial abnormalities such as small mandible.

64 The specific nature of the craniofacial abnormalities suggests that crude oil may t

65 In this paper genes causing craniofacial abnormalities, that have either been mapped

66 , we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural cre

67 Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of

68 Obesity and craniofacial abnormalities, which have been reported in

69 nt with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal unipar