SCOPUS 정보 검색 플랫폼

Volumn 86, Issue 4, 2014, Pages 326-334

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

(27) Chassaing, Nicolas a,b Causse, A a,c Vigouroux, A a Delahaye, A d,e Alessandri, J L f Boespflug Tanguy, O g Boute Benejean, O h Dollfus, H i Duban Bedu, B j Gilbert Dussardier, B k Giuliano, F l Gonzales, M m,n Holder Espinasse, M h Isidor, B o Jacquemont, M L p Lacombe, D q,r Martin Coignard, D s Mathieu Dramard, M t Odent, S u Picone, O v more..

a CHU PURPAN (France)

b UNIVERSITÉ PAUL SABATIER (France)

c TOULOUSE UNIVERSITY HOSPITAL (France)

d UFR SMBH (France)

e INSERM (France)

f Centre Hospitalier Departemental Felix Guyon (France)

g HÔPITAL ROBERT DEBRÉ (France)

h LILLE UNIVERSITY HOSPITAL (France)

i HÔPITAL DE HAUTEPIERRE (France)

more..

Author keywords

Anophthalmia; FOXE3; GDF6; Microphthalmia; OTX2; PAX6; RAX; SOX2; VSX2

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; FOXE3 TRANSCRIPTION FACTOR; GROWTH DIFFERENTIATION FACTOR 6; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR RAX; TRANSCRIPTION FACTOR SOX2; TRANSCRIPTION FACTOR VSX2; UNCLASSIFIED DRUG; EYE PROTEIN; FOXE3 PROTEIN, HUMAN; GDF6 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; OTX2 PROTEIN, HUMAN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN; SOX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX; TRANSCRIPTION FACTOR SOX; VSX2 PROTEIN, HUMAN;

ADULT; ANOPHTHALMIA; ARTICLE; CHILD; CLINICAL STUDY; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA BINDING; DOMINANT INHERITANCE; FEMALE; FETUS; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; RECESSIVE INHERITANCE; SCHOOL CHILD; YOUNG ADULT; ADOLESCENT; ANOPHTHALMOS; DIAGNOSTIC USE; GENETICS; MICROPHTHALMOS; PATHOLOGY;

ADOLESCENT; ADULT; ANOPHTHALMOS; CHILD; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC HETEROGENEITY; GROWTH DIFFERENTIATION FACTOR 6; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MICROPHTHALMOS; OTX TRANSCRIPTION FACTORS; PAIRED BOX TRANSCRIPTION FACTORS; POINT MUTATION; REPRESSOR PROTEINS; SOXB1 TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS;

EID: 84908257162 PISSN: 00099163 EISSN: 13990004 Source Type: Journal
DOI: 10.1111/cge.12275 Document Type: Article

Times cited : (90)

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