X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (702) 702
Book Review (84) 84
Publication (77) 77
Book Chapter (7) 7
Conference Proceeding (3) 3
Dissertation (2) 2
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
anophthalmia (577) 577
index medicus (495) 495
humans (410) 410
female (271) 271
microphthalmia (270) 270
male (261) 261
genetics & heredity (251) 251
mutation (147) 147
ophthalmology (135) 135
animals (128) 128
mutations (127) 127
microphthalmos - genetics (112) 112
phenotype (112) 112
anophthalmos - genetics (111) 111
eye diseases (108) 108
eye (106) 106
child (105) 105
infant (103) 103
adult (96) 96
child, preschool (91) 91
infant, newborn (89) 89
coloboma (84) 84
pedigree (80) 80
mice (70) 70
anomalies (69) 69
genetic aspects (69) 69
gene (67) 67
genes (66) 66
sense organs (64) 64
syndrome (62) 62
genetics (60) 60
sox2 (59) 59
defects (58) 58
adolescent (56) 56
homeodomain proteins - genetics (55) 55
pregnancy (55) 55
malformations (54) 54
analysis (53) 53
anophthalmos - pathology (53) 53
abnormalities (50) 50
biochemistry & molecular biology (50) 50
article (49) 49
homeobox gene (48) 48
expression (47) 47
research (47) 47
developmental biology (43) 43
eye abnormalities - genetics (43) 43
gene expression (43) 43
mouse (43) 43
transcription factors - genetics (43) 43
base sequence (41) 41
genetic disorders (41) 41
abnormalities, multiple - genetics (39) 39
molecular sequence data (39) 39
magnetic resonance imaging (38) 38
dna mutational analysis (37) 37
family (37) 37
research article (37) 37
transcription factors (37) 37
pediatrics (36) 36
soxb1 transcription factors - genetics (36) 36
deletion (35) 35
middle aged (35) 35
surgery (34) 34
consanguinity (33) 33
genomics (33) 33
eye proteins - genetics (32) 32
microphthalmos (32) 32
pax6 (31) 31
anophthalmos (30) 30
microphthalmos - diagnosis (30) 30
retina (30) 30
birth defects (29) 29
brain (29) 29
coloboma - genetics (29) 29
gene mutations (29) 29
anophthalmos - diagnosis (28) 28
differentiation (28) 28
heterozygote (28) 28
medicine (28) 28
proteins (28) 28
chromosome deletion (27) 27
homozygote (27) 27
microphthalmos - pathology (27) 27
soxb1 transcription factors (27) 27
gene expression regulation, developmental (26) 26
genetic research (26) 26
young adult (26) 26
congenital, hereditary, and neonatal diseases and abnormalities (25) 25
eye development (25) 25
genetic structures (25) 25
hypoplasia (25) 25
phenotypes (25) 25
pituitary (25) 25
abnormalities, multiple - pathology (24) 24
amino acid sequence (24) 24
cell biology (24) 24
gene deletion (24) 24
multidisciplinary sciences (24) 24
neurosciences (24) 24
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (656) 656
German (20) 20
French (10) 10
Spanish (10) 10
Portuguese (6) 6
Romanian (4) 4
Polish (3) 3
Russian (2) 2
Italian (1) 1
Japanese (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


08/2012
In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features -... 
microcephaly | mosaicism | deletion (q11.2q13) | Anophthalmia
Web Resource
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 3048 - 3050
Journal Article
Orbit, ISSN 0167-6830, 05/2019, Volume 38, Issue 3, pp. 192 - 198
Purpose: The purpose of the study is to evaluate demographic data and outcomes of the management of congenital anophthalmia/microphthalmia. Methods: This... 
disorders | Anophthalmia | congenital | microphthalmia | outcome
Journal Article
EYE, ISSN 0950-222X, 07/2019, Volume 33, Issue 7, pp. 1158 - 1160
Purpose To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis. Methods Retrospective analysis of... 
OPHTHALMOLOGY | Autografts | Prostheses | Eyelid | Cornea | Anophthalmia | Patients | Prosthetics | Microphthalmia
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1395 - 1397
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2012, Volume 158A, Issue 6, pp. 1381 - 1387
Deletions in chromosome 14q22–23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with... 
microphthalmia | haploinsufficiency | anophthalmia
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1810 - 1818
Journal Article
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 06/2017, Volume 40, Issue 2, pp. 430 - 435
Abstract Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn... 
ALDH1A3 | compound heterozygous mutations | Anophthalmia | exome sequence
Journal Article
Journal Article
Expert Review of Ophthalmology, ISSN 1746-9899, 07/2018, Volume 13, Issue 4, pp. 171 - 173
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 06/2012, Volume 158, Issue 6, pp. 1381 - 1387
  Deletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with... 
Anophthalmia | Haploinsufficiency | Microphthalmia | Body height
Journal Article
Journal of Medicine and Life, ISSN 1844-122X, 2014, Volume 7, Issue Spec Iss 4, pp. 23 - 29
Keeping the eye is impossible, functionality is lost and aesthetic requirements are high. What do we do? Which approach is right? This is the dilemma we face... 
Reviews | anophthalmia | reconstruction
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 10/2018, Volume 52, Issue S1, pp. 230 - 231
Journal Article
Ophthalmology, ISSN 0161-6420, 06/2019, Volume 126, Issue 6, pp. 888 - 907
Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye... 
CHILDHOOD BLINDNESS | FOXC1 | ANTERIOR SEGMENT DYSGENESIS | UNITED-KINGDOM | CONGENITAL CATARACT | ANOPHTHALMIA | SUSCEPTIBILITY LOCI | AMERICAN-COLLEGE | OPHTHALMOLOGY | MEDICAL GENETICS | MUTATIONS
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.