Results 11 to 20 of about 1,142,423 (87)

Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder

, 2023
Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome.
Karan Dedhia, S. Shanmuga Jayanthan, T. Mukuntharajan, K. Nadanasadharam, Rajagopal Ganesh, A. Nancy Manodoss, Narayanan Karunakaran   +6 more
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice [PDF]

, 2011
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly.
Jackson, Ian J., Peter Branney, Rainger, Joe, Bardakjian, Tanya M, Sokhi, K., Pallotta, Rosanna, Koenig Rainer, Malcolm Fisher, McKie Lisa, Anita Wischmeijer, Fisher, M., Sérgio B. Sousa, Kishan Sokhi, Brunner, Han G, Mégarbané Andre, Fisher, Malcolm, Gillessen-Kaesbach, G., Sousa, Sérgio B., Bokhoven, J.H.L.M. van, Hennekam, Raoul C., Al-Gazali, L., Wischmeijer, Anita, FitzPatrick David R., Semerci, C. Nur, Andrea Superti Furga, Philippe Gautier, Ramos, Lina, Hennekam, Raoul, Bardakjian, T.M., Perry Paul, Semerci, C Nur, Pallotta Rosanna, van Beusekom Ellen, Ramos, L., Khan, Ayesha, Wieczorek, D, Lisa McKie, Ian J Jackson, Gillessen-Kaesbach Gabriele, Bicknell Louise, Saemah Zafar, Raoul Hennekam, Ferda Ozkinay, Elcioglu, Nursel, Fitzpatrick, David R, Adele S Schneider, Gillessen-Kaesbach, Gabriele Gertrud, Ramos Lina, Hennekam Raoul, Rosanna Pallotta, Lihadh Al-Gazali, Dagmar Wieczorek, Megarbane, A., Zafar, Saemah, van Bokhoven, H., Paul Perry, Rainer Koenig, Perry, P., Schneider, Adele S., Ian J. Jackson, Gautier Philippe, Semerci C. Nur, Gautier, P., C. Nur Semerci, Koenig, Rainer, Morrison, Harris, Gautier, Philippe, Bicknell, L., Al-Gazali Lihadh, Elcioglu Nursel, Saponari Anita, Furga, A.S., McKie, L., Han G Brunner, Ellen van Beusekom, Han G. Brunner, Sokhi Kishan, Zafar Saemah, Semerci, C.N., David Sexton, van Bokhoven, Hans, Gabriele Gillessen-Kaesbach, Sousa Sérgio B., Garavelli Livia, Ramsay, Jacqueline K, Lina Ramos, Schneider, Adele S, Ramsay Jacqueline K., Jackson Ian J., Rainger, J., Anita Saponari, FitzPatrick, D.R., Al-Gazali, Lihadh, Bicknell, Louise, Wieczorek, Dagmar, Elcioglu, N., Ayesha Khan, David R Fitzpatrick, Garavelli, Livia, Wieczorek, D., Jackson, Ian J, Sokhi, Kishan, Sexton, D., Jacqueline K Ramsay, Schneider, A.S., Harris Morrison, Adele S. Schneider, Hans van Bokhoven, Sexton David, Rainger Joe, Gillessen-Kaesbach, Gabriele, Beusekom, E. van, Furga, Andrea Superti, Brunner, Han G., Mégarbané, Andre, Wischmeijer, A., Wischmeijer Anita, Brunner, H.G., Tanya M Bardakjian, Pallotta, R., Hennekam, R., Branney Peter, Ozkinay, Ferda, Branney, Peter, Andre Mégarbané, Fisher Malcolm, Brunner Han G., FitzPatrick, David R., Morrison Harris, Bardakjian, Tanya M., Ozkinay, F., Khan, A., Sousa, S.B., Furga Andrea Superti, Jackson, I.J., Bokhoven, Hans van, David R. FitzPatrick, Özkınay, Ferda, Ozkinay Ferda, van Bokhoven Hans, Saponari, Anita, Jacqueline K. Ramsay, Garavelli, L., Tanya M. Bardakjian, Perry, Paul, Sexton, David, Nursel Elcioglu, Zafar, S., Bardakjian Tanya M., Khan Ayesha, Saponari, A., Branney, P., Sousa, Sérgio B, Sérgio B Sousa, van Beusekom, E., Louise Bicknell, Ramsay, Jacqueline K., Schneider Adele S., van Beusekom, Ellen, C Nur Semerci, Ramsay, J.K., Livia Garavelli, Wieczorek Dagmar, Joe Rainger, Beusekom, Ellen van, McKie, Lisa, Koenig, R., Morrison, H.   +167 more
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Unusual case of persistent Horner′s syndrome following epidural anaesthesia and caesarean section

Indian Journal of Ophthalmology, 2011
This is a rare case of persistent Horner′s syndrome following epidural anesthesia and Caesarean section. A 33-year-old female presented with persistent ptosis and miosis following epidural anesthesia and Caesarian section several months prior.
Shubhra Goel, Cat Nguyen Burkat
doaj   +1 more source

Application of ultrasound biomicro-scopy in the planning of cataract surgery in anterior megalophthalmos

Indian Journal of Ophthalmology, 2011
Anterior megalophthalmos, a rare hereditary disorder, is macrocornea (horizontal corneal diameter more than 13 mm) in association with enlarged lens-iris diaphragm and ciliary ring.
Mohammad Ali Zare, Bahram Eshraghi, Mohammad Yaser Kiarudi, Ebrahim Azaripour Masoule   +3 more
doaj   +1 more source

Feed back of the parents and / or relatives witnessing a squint surgery of their ward in the operation theater

Indian Journal of Ophthalmology, 2011
The aim of the study was to know the response of the relatives attending the squint surgery of their ward. A trained secretary administered an eight item questionnaire by live / telephonic interview.
Mihir Kothari
doaj   +1 more source

PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability [PDF]

, 2022
Renal coloboma syndrome (RCS) is a disease characterized by kidney and ocular anomalies (kidney hypodysplasia and coloboma). RCS is caused, in half of the cases, by mutations in the paired box 2 (PAX2) gene, a critical organogenesis transcriptional ...
Ligabue, Giulia, Francesca Testa, Andrea Pasini, Magistroni, Riccardo, Tagliafico, Enrico, Riccardo Magistroni, Enrico Tagliafico, Silvia Giovanella, Giulia Ligabue, Giovanella, Silvia, Giacomo Mori, Testa, Francesca, Mori, Giacomo, Pasini, Andrea   +13 more
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Carpal tunnel syndrome caused by lipoma: a case report [PDF]

, 2016
Lipoma is a relatively frequent, benign soft-tissue tumor rarely located in the hand. A lipoma of the hand causing a carpal tunnel syndrome by compression of the median nerve is exceptional.
Benzarti, Sofien, Msek, Hichem, Sbai, Mohamed Ali, Boussen, Monia, Khorbi, Adel   +4 more
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A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2

, 2022
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure.
CHEN Zhi, LING Chen, LIU Xiaorong
core   +1 more source

Giant lipoma: an unusual cause of carpal tunnel syndrome [PDF]

, 2011
Carpal tunnel syndrome, in its idiopathic form, is an extremely common entrapment neuropathy in the clinical practice however secondary compressive causes are rare. Among secondary causes, tumors are even rarer.
Kotwal, P, Jalan, D, Garg, B, Marimuthu, K   +3 more
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Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome

, 2016
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively,
Yadav, Reena, Gupta, Sharad, Sahu, Sabin, Raj Puri, L, Raj Puri, Lila, Gupta, S, Yadav, R, Sahu, S   +7 more
core   +1 more source