نتایج جستجو برای: anophthalmia
تعداد نتایج: 586 فیلتر نتایج به سال:
C audal regression syndrome (CRS) is a rare embryopathy characterized by maldevelopment of the vertebrae, visceral organs, and lower extremities. Patients with CRS have deformities of the sacrococcygeal vertebrae and develop neurogenic bladder from dysfunction of the sacral nerve root. Additional anomalies include congenital heart defects, intestinal malrotation, agenesis of the genitourinary s...
Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three ...
OTX2 (orthodenticle homeobox 2) haplodeficiency causes diverse defects in mammalian visual systems ranging from retinal dysfunction to anophthalmia. We find that the retinal dystrophy of Otx2(+/GFP) heterozygous knockin mice is mainly due to the loss of bipolar cells and consequent deficits in retinal activity. Among bipolar cell types, OFF-cone bipolar subsets, which lack autonomous Otx2 gene ...
On Thursday, 16 June, 2011 a two months old male Kano brown goat was presented to the Niger State Veterinary Hospital, Bosso-Minna with multiple facial abnormalities. History revealed that the flock did not have antecedents of malformations or apparent reasons that induced the abnormalities. Phenotypical examination revealed that the goat could have been under the influence of some teratogen or...
Lack of visual input early in life results in occipital cortical responses to auditory and tactile stimuli. However, it remains unclear whether cross-modal plasticity also occurs in subcortical pathways. With the use of functional magnetic resonance imaging, auditory responses were compared across individuals with congenital anophthalmia (absence of eyes), those with early onset (in the first f...
A STUDY Of. t66 literature reveals that not many examples of anophth-almia have been subjected to microscopical examination, and that only a few of these are -of recent date.The investigation of a particular case-itself of sbme special interest-suggests that the nature of anophthalmia and the interpretation of previous observations are worthy of further-d-iscussion in the light of modern views ...
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