نتایج جستجو برای: anophthalmia

تعداد نتایج: 586  

Journal: :Archives of Disease in Childhood - Fetal and Neonatal Edition 1998

Journal: :Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2003
Medhat F Guirgis Agnes M F Wong Lawrence Tychsen

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...

Journal: :American journal of human genetics 2011
Ippei Okada Haruka Hamanoue Koji Terada Takaya Tohma Andre Megarbane Eliane Chouery Joelle Abou-Ghoch Nadine Jalkh Ozgur Cogulu Ferda Ozkinay Kyoji Horie Junji Takeda Tatsuya Furuichi Shiro Ikegawa Kiyomi Nishiyama Satoko Miyatake Akira Nishimura Takeshi Mizuguchi Norio Niikawa Fumiki Hirahara Tadashi Kaname Koh-Ichiro Yoshiura Yoshinori Tsurusaki Hiroshi Doi Noriko Miyake Takahisa Furukawa Naomichi Matsumoto Hirotomo Saitsu

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 ...

Journal: :Cell reports 2015
Hyoung-Tai Kim Soung Jung Kim Young-In Sohn Sun-Sook Paik Romain Caplette Manuel Simonutti Kyeong Hwan Moon Eun Jung Lee Kwang Wook Min Mi Jeong Kim Dong-Gi Lee Antonio Simeone Thomas Lamonerie Takahisa Furukawa Jong-Soon Choi Hee-Seok Kweon Serge Picaud In-Beom Kim Minho Shong Jin Woo Kim

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 ...

2013
N. B. Alhaji B. N. Sani S. Joseph

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...

Journal: :Journal of neurophysiology 2015
Gaelle S L Coullon Fang Jiang Ione Fine Kate E Watkins Holly Bridge

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...

Journal: :The British journal of ophthalmology 1944
T Rogalski

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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