ライフサイエンスコーパス: sensorineural deafness

1 ve syndrome characterized by high myopia and sensorineural deafness.

2 acid-base homeostasis, often accompanied by sensorineural deafness.

3 mutation was linked to early-onset SRNS with sensorineural deafness.

4 progressive ponto-bulbar palsy and bilateral sensorineural deafness.

5 diabetes mellitus, megaloblastic anemia, and sensorineural deafness.

6 of myosin VI causes progressive postlingual sensorineural deafness.

7 bnormalities, optic nerve colobomas and mild sensorineural deafness.

8 genital, renal, and ear anomalies, including sensorineural deafness.

9 he molecular basis of nephrotic syndrome and sensorineural deafness.

10 diabetes mellitus, megaloblastic anemia and sensorineural deafness.

11 ith autosomal recessive dRTA associated with sensorineural deafness.

12 r keratoderma associated with ichthyosis and sensorineural deafness.

13 with 35 members with the A1555G mutation and sensorineural deafness.

14 ein 1 (TBL1), whose gene is mutated in human sensorineural deafness.

15 cy-onset diabetes, congenital cataracts, and sensorineural deafness.

16 aniofrontonasal syndrome, and a nonsyndromic sensorineural deafness.

17 with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we character

18 renal disease that is often associated with sensorineural deafness (Alport syndrome).

19 ion of symptoms, including epilepsy, ataxia, sensorineural deafness and a renal tubulopathy designate

20 Sensorineural deafness and balance dysfunction are commo

21 ogical disorder characterized by early-onset sensorineural deafness and brain anomalies.

22 aemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus.

23 Patients presented with early-onset sensorineural deafness and distal renal tubular acidosis

24 n is responsible for the familiar conditions sensorineural deafness and hypertrophic cardiomyopathy.

25 We report siblings with congenital sensorineural deafness and lactic acidemia in associatio

26 of mitochondrial RC dysfunction, congenital sensorineural deafness and progressive hepatic and renal

27 the inner ear, cause the autosomal dominant sensorineural deafness and vestibular disorder, DFNA9 (O

28 d fever, rashes, arthralgia, conjunctivitis, sensorineural deafness, and an intense acute-phase respo

29 syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts.

30 eration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features.

31 deficiency - such as in hypoparathyroidism, sensorineural deafness, and renal (HDR) syndrome - by OP

32 In addition, three individuals had sensorineural deafness, and three had bronchial asthma.

33 e are tissue specific--eg, optic neuropathy, sensorineural deafness, and type 2 diabetes mellitus.

34 isability, cortical malformations, coloboma, sensorineural deafness, and typical facial features.

35 ties, severe cerebellar hypoplasia, profound sensorineural deafness, and visual impairment due to sev

36 erebellar hypoplasia, learning difficulties, sensorineural deafness, and visual impairment.

37 ome characterized by postlingual progressive sensorineural deafness as the first presenting symptom i

38 f these patients (73%) presented without the sensorineural deafness associated with Jervell and Lange

39 yndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes

40 etabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnorm

41 cognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and

42 Bilateral sensorineural deafness beginning in late childhood and e

43 everal human diseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth disease-5, a

44 hich is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction

45 before 12 months (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5),

46 nice, and stitch, with recessively inherited sensorineural deafness due to novel mutations in the tra

47 severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dy

48 utosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide orga

49 aits of hypersensitivity to streptomycin and sensorineural deafness in a number of families from Chin

50 racterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in

51 rative disorder characterized by progressive sensorineural deafness in combination with childhood amy

52 i, providing a molecular explanation for the sensorineural deafness in ectodermal dysplasia patients

53 nconventional myosin XVa are associated with sensorineural deafness in humans (DFNB3) and shaker (Myo

54 Sensorineural deafness in MWS, and provocation of sympto

55 ed for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizure

56 s improve the diabetes, although progressive sensorineural deafness is irreversible.

57 sent in a pedigree with maternally inherited sensorineural deafness, levodopa-responsive parkinsonism

58 , Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome

59 In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was sho

60 aracterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinson

61 Additional aspects of the phenotype include sensorineural deafness, reduced lifespan and decreased r

62 megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to

63 t Cx26 and Cx30 mutations that are linked to sensorineural deafness retained ionic coupling but were

64 Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguin

65 ed a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infant

66 ous syndrome ocular albinism with late onset sensorineural deafness syndromes.

67 ibes the association of profound, congenital sensorineural deafness, vestibular hypofunction and chil

68 Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence in the epide