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注意：仅列出部分参考文献，下载原文获取全部文献信息。OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
K. F. Schilter et al.
CLINICAL GENETICS (2011)
Deletion of Otx2 in GnRH Neurons Results in a Mouse Model of Hypogonadotropic Hypogonadism
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Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
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BRITISH JOURNAL OF OPHTHALMOLOGY (2010)
PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency
Laura C. G. de Graaff et al.
HORMONE RESEARCH IN PAEDIATRICS (2010)
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
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Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Genetic Regulation of Pituitary Gland Development in Human and Mouse
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ENDOCRINE REVIEWS (2009)
OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary
Toshihiro Tajima et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
Sibel Kantarci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Branchiootorenal Syndrome and Oculoauriculovertebral Spectrum Features Associated With Duplication of SIX1, SIX6, and OTX2 Resulting From a Complex Chromosomal Rearrangement
Zhishuo On et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Novel Heterozygous OTX2 Mutations and Whole Gene Deletions in Anophthalmia, Microphthalmia and Coloboma
Alexander Wyatt et al.
HUMAN MUTATION (2008)
A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency
Daniel Diaczok et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency:: Functional studies using the IRBP, HESX1, and POU1F1 promoters
Sumito Dateki et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
R. Alex Henderson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies
Leisha D. Nolen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants
Gilles Chatelain et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Heterozygous mutations of OTX2 cause severe ocular malformations
NK Ragge et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Involvement of Pax6 and Otx2 in the forebrain-specific regulation of the vertebrate homeobox gene ANF/Hesx1
D Spieler et al.
DEVELOPMENTAL BIOLOGY (2004)
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