| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1136/JMG.30.3.251 |
| P953 | full work available at URL | https://jmg.bmj.com/content/jmedgenet/30/3/251.full.pdf |
| https://europepmc.org/articles/PMC1016311 | ||
| https://europepmc.org/articles/PMC1016311?pdf=render | ||
| https://syndication.highwire.org/content/doi/10.1136/jmg.30.3.251 | ||
| P932 | PMC publication ID | 1016311 |
| P698 | PubMed publication ID | 7682620 |
| P5875 | ResearchGate publication ID | 15515785 |
| P2093 | author name string | J. Elliott | |
| B. Reynolds | |||
| E. L. Maltby | |||
| P2860 | cites work | A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation | Q33592821 |
| Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities | Q33596773 | ||
| Terminal deletion (14)(q32.3): a new case | Q33597543 | ||
| A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome | Q38011152 | ||
| Distal monosomy 14 not associated with ring formation. | Q42653268 | ||
| Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin) | Q68807617 | ||
| Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin) | Q70232566 | ||
| Deletion 14q and pericentric inversion 14 | Q33588131 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | chromosomal deletion syndrome | Q16918398 |
| P304 | page(s) | 251-2 | |
| P577 | publication date | 1993-03-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities | |
| A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities | |||
| P478 | volume | 30 |
| Q24658065 | A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency |
| Q37452630 | A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction |
| Q42667918 | Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome? |
| Q33596322 | Anophthalmia with cleft palate and micrognathia: a new syndrome? |
| Q71952006 | Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome? |
| Q35981262 | Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study |
| Q92039578 | Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells |
| Q34741765 | DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma |
| Q33679024 | Delineation of 14q32.3 deletion syndrome |
| Q46377672 | Distinct cis-acting regions control six6 expression during eye field and optic cup stages of eye formation |
| Q77359214 | Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure |
| Q30410828 | Gene dosage of Otx2 is important for fertility in male mice. |
| Q22010621 | Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies |
| Q47132134 | Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy |
| Q54482859 | Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. |
| Q48881848 | Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia |
| Q54414359 | Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation. |
| Q33775014 | Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). |
| Q53066942 | Mandibular dysostosis without microphthalmia caused by OTX2 deletion. |
| Q50668102 | Midbrain-hindbrain involvement in septo-optic dysplasia. |
| Q38132737 | Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations |
| Q36719098 | Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways |
| Q38001030 | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case feport and literature review |
| Q34010175 | Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion |
| Q40798851 | Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk |
| Q37479502 | The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes |
| Q37905532 | The role of homeodomain transcription factors in heritable pituitary disease |
| Q73813291 | [Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders] |
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