ライフサイエンスコーパス: anophthalmia

1 osencephaly) and failure of eye development (anophthalmia).

2 extensive exencephaly, and microphthalmia or anophthalmia.

3 ot support such a pattern of organization in anophthalmia.

4 ted with microphthalmia and/or contralateral anophthalmia.

5 ession, leading to severe lens hypoplasia or anophthalmia.

6 e to the frustrating condition of congenital anophthalmia.

7 were recently adapted for use in congenital anophthalmia.

8 3;11)(q26.3;p11.2) associated with bilateral anophthalmia.

9 ns of SOX2 in 4 of 35 (11%) individuals with anophthalmia.

10 s of differing severity, including bilateral anophthalmia.

11 development of the maxilla, exencephaly and anophthalmia.

12 es such as coloboma, microphthalmia, or even anophthalmia.

13 Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clin

14 up of blind people with bilateral congenital anophthalmia, a condition in which both eyes fail to dev

15 ference to disorders of the optic chiasm and anophthalmia (absence of the eyes).

16 Approximately 10% of humans with anophthalmia (absent eye) or severe microphthalmia (smal

17 onclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and

18 ateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic

19 Anophthalmia and microphthalmia are among the most commo

20 tion sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes.

21 s changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals.

22 ion by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appr

23 The etiology of anophthalmia and microphthalmia is diverse, with multipl

24 dvances in identifying the various causes of anophthalmia and microphthalmia.

25 te the role mutations in these genes play in anophthalmia and microphthalmia.

26 s in cortical organization between bilateral anophthalmia and other forms of congenital blindness are

27 evelopmental defects including exencephalia, anophthalmia and severe growth retardation were noted in

28 nophthalmia, we screened 75 individuals with anophthalmia and/or microphthalmia for mutations in the

29 elopmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality.

30 s placode, an ocular phenotype that includes anophthalmia, and a complete failure of nasal placode in

31 ding the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal d

32 study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized

33 Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum

34 of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysge

35 Both congenital and acquired pediatric anophthalmia are discussed.

36 phthalmic socket is distinguished from adult anophthalmia, because normal socket and facial developme

37 utations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome.

38 in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth

39 Although the management of anophthalmia in the child is fraught with challenges and

40 51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic sk

41 Three microphthalmia/anophthalmia loci have been identified, and two others h

42 ts in developmental abnormalities, including anophthalmia, microcephaly, cleft palates, and mandibula

43 with developmental eye disorders, including anophthalmia, microphthalmia and coloboma.

44 evelopmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous diso

45 , in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demon

46 Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dys

47 for renal agenesis/hypoplasia (positive) and anophthalmia/microphthalmia and gastroschisis (negative)

48 2 or PAX6 is associated with microphthalmia, anophthalmia or aniridia.

49 20% of patients with unilateral or bilateral anophthalmia or microphthalmia.

50 were defective in eye development and showed anophthalmia or microphthalmia.

51 ongenital defects, such as microphthalmia or anophthalmia, or a change of cell fate into neural retin

52 tal defects are highly variable, and include anophthalmia, persistence of vitreous vessels, and fusio

53 ng severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, keratitis, corneal neov

54 ctivity in extrastriate areas was reduced in anophthalmia to the level of cortical areas that are het

55 otypes ranging from a complete lack of eyes (anophthalmia) to defects in the developing lens involvin

56 l development and result in animal models of anophthalmia, we screened 75 individuals with anophthalm