نتایج جستجو برای: anophthalmos
تعداد نتایج: 207 فیلتر نتایج به سال:
Basal cell carcinoma is a type of skin cancer and rare, aggressive forms of basal cell carcinoma can invade and destroy nearby muscles, nerves and bone. Very rarely, basal cell carcinoma can spread to other areas of the body. We report the case of a 70-yearold woman who present 3 years ago a small nodule in the right upper eyelid neglected until a very important increase in its volume what moti...
BACKGROUND Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports o...
BACKGROUND Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. METHODS W...
Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is...
The present study was carried out between November 2004 and April ,2008 on 184 animals( 122 cattle, 27 buffaloes, 12 horses, 7 donkeys ,11 sheep, 2 goats ,and 3 dogs)suffered from different ocular affections . The animals were examined at private farm stations at Dakahlia Province, during field training trips beside those animals admitted to the surgery clinic of the Mansoura Teaching Hospital ...
Imaging technologies have revolutionized the study of human anatomy and physiology. Nowhere is this more evident than in the vision sciences, where imaging has provided unprecedented insights into the structure and function of the entire visual pathway in vivo. Ocular and retinal imaging techniques such as optical coherence tomography (OCT) have become established clinical tools, providing high...
PURPOSE To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations. METHODS Three patients with clinical anophthalmia and first-degree relatives from two consanguineous families of Egyptian origin underwent ...
Somatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10-30% of patients with myeloid malignancies, most commonly in myelodysplastic syndromes (MDSs), and are associated with adverse outcome. Germline ASXL1 mutations occur in patients with Bohring-Opitz syndrome. Here, we show that constitutive loss of Asxl1 results in developmental abnormalities, including anophthalmia, microcephaly,...
ASXL1 is mutated/deleted with high frequencies in multiple forms of myeloid malignancies, and its alterations are associated with poor prognosis. De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malformations. We show that Asxl1 deletion in mice led to developmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality. Surviving As...
To the Editor : Heterozygous, loss of function mutations in the high mobility group (HMG) gene, SOX2 , encoding the sex-determining region Y-box 2 (MIM 184429) protein, lead to severe developmental eye and brain malformations, and some anophthalmos-esophagealgenital syndrome cases (1). However, the fate of these cases into adulthood is unknown. We report an adult with SOX2 anophthalmia syndrome...
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