ライフサイエンスコーパス: arthrogryposis

1 and fetal akinesia deformation sequence (ie, arthrogryposis).

2 elbows, and/or knees and joint contractures (arthrogryposis).

3 elbows, and/or knees and joint contractures (arthrogryposis).

4 rome combine brain atrophy with clubfoot and arthrogryposis.

5 genetically heterogeneous disorders, such as arthrogryposis.

6 Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis.

7 ed by distal weakness and wasting, or distal arthrogryposis.

8 -Hall syndrome (SHS), the most common distal arthrogryposis.

9 ts with cardiac myxoma syndromes but without arthrogryposis.

10 normal neurological exam, and 18 (20.7%) had arthrogryposis.

11 causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disord

12 ions are linked to the development of Distal Arthrogryposis-1 (DA-1).

13 zed at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), o

14 minant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or Marden-Walker syndrome (MWKS)

15 Additional features at presentation include arthrogryposis and congenital dislocation of the hips.

16 nvolving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are

17 ole of autoantibodies in some cases of fetal arthrogryposis and in acquired neuromyotonia, Morvan's s

18 On postmortem examination, arthrogryposis and oligohydramnios were observed in some

19 ness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form o

20 ormations, including microcephaly as well as arthrogryposis and spontaneous abortions.

21 orders have been described that present with arthrogryposis, and variants of more than 220 genes have

22 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second l

23 om 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous va

24 Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin

25 Distal arthrogryposis (DA) syndromes are the most common of the

26 o screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as conc

27 Arthrogryposis, defined as congenital joint contractures

28 of 52 patients with clinical presentation of arthrogryposis from 48 different families.

29 E AKAV and SBV are the etiological agents of arthrogryposis-hydranencephaly syndrome in ruminants, wh

30 o as well as in vivo Both AKAV and SBV cause arthrogryposis-hydranencephaly syndrome in ruminants.

31 s consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral

32 Distal arthrogryposis is the most common known heritable cause

33 It is the most severe form of distal arthrogryposis, leading to overcontraction of the hands,

34 In 58.3% of families, the arthrogryposis manifestation could be explained by a mol

35 Arthrogryposis multiplex congenita (AMC) is a developmen

36 Arthrogryposis multiplex congenita (AMC), a clinical syn

37 CCS) is a lethal autosomal recessive form of arthrogryposis multiplex congenita (AMC).

38 e axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR

39 Arthrogryposis multiplex congenita is defined by the pre

40 s of myasthenia gravis, rhabdomyosarcoma and arthrogryposis multiplex congenita which can be caused b

41 oid leukemia; non-small cell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and

42 isystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfun

43 e consanguineous families affected by lethal arthrogryposis multiplex congenita.

44 ia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-limbed dysplasia (n =

45 m abnormalities (OR, 4.3; 95% CI, 1.6-11.2), arthrogryposis (OR, 29.0; 95% CI, 3.3-255.8), and matern

46 reported that Gpr126(-/-) mice have a lethal arthrogryposis phenotype.

47 ereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory fa

48 0-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrom

49 the autosomal recessive multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndro

50 Arthrogryposis, renal dysfunction and cholestasis syndro

51 Arthrogryposis, renal dysfunction, and cholestasis (ARC)

52 cterization of platelets from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC)

53 Arthrogryposis, renal dysfunction, and cholestasis (ARC)

54 Arthrogryposis-renal dysfunction-cholestasis (ARC) syndr

55 ings have been reported for individuals with arthrogryposis-renal dysfunction-cholestasis (ARC) syndr

56 Arthrogryposis-renal dysfunction-cholestasis syndrome (A

57 a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insu

58 substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syn

59 re multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all c

60 arney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome

61 Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome

62 Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant

63 Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant dis

64 The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (

65 mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function

66 tations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autos

67 trismus-pseudocamptodactyly syndrome (distal arthrogryposis type 7; previously associated exclusively

68 Distal arthrogryposis type I (DA1) is a disorder characterized

69 MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations re

70 y, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B.

71 newborn babies with microcephaly and severe arthrogryposis who died shortly after birth, one 2-month

72 congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are autos