Zobrazeno 1 - 10 of 73 pro vyhledávání: '"Aprosencephaly"'
1
Akademický článek
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf
Autor: Marina Braun, Annika Lehmbecker, Deborah Eikelberg, Maren Hellige, Andreas Beineke, Julia Metzger, Ottmar Distl
Publikováno v: BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genom
Externí odkaz: https://doaj.org/article/c4d6e68655d44a0985ac4896a9533df3
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2
Akademický článek
Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report
Autor: Turgut Tursem Tokmak, Ali Koc, Ozgur Karabiyik, Altan Kaya, Mustafa Gureli
Publikováno v: São Paulo Medical Journal, Iss 0 (2018)
ABSTRACT CONTEXT: Dermoid cysts are well-defined cysts containing sebaceous glands and dermal structures. In the literature, dermoid cysts and associated closure defects have been described in the same locations. CASE REPORT: In this case, a dermoid
Externí odkaz: https://doaj.org/article/7185dadce26746b8bd2d80d34c1da9a4
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3
Akademický článek
Correlation of trisomy 13 with atelencephalic aprosencephaly
Autor: Kitova Tanya, Kitov Borislav, Cheikh Nahed Ben, Gaigi Soumeya Siala
Publikováno v: Pteridines, Vol 26, Iss 1, Pp 37-40 (2015)
A rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and
Externí odkaz: https://doaj.org/article/ff87d801755e4dc3884deaf036456a1e
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4
Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report
Autor: Ali Murat Koc, Altan Kaya, Turgut Tursem Tokmak, Özgür Karabıyık, Mustafa Gureli
Publikováno v: Sao Paulo Medical Journal, Volume: 137, Issue: 3, Pages: 298-301, Published: 23 AUG 2018
Sao Paulo Medical Journal, Issue: ahead, Published: 23 AUG 2018
São Paulo Medical Journal, Iss 0 (2018)
Sao Paulo Medical Journal v.137 n.3 2019
São Paulo medical journal
Associação Paulista de Medicina
instacron:APM
CONTEXT: Dermoid cysts are well-defined cysts containing sebaceous glands and dermal structures. In the literature, dermoid cysts and associated closure defects have been described in the same locations. CASE REPORT: In this case, a dermoid cyst was
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd54911f81877569df421214cc52ff9
https://doi.org/10.1590/1516-3180.2018.0412010418
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5
Akademický článek
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6
Correlation of trisomy 13 with atelencephalic aprosencephaly
Autor: Tanya Kitova, Borislav Kitov, Soumeya Siala Gaigi, Nahed Ben Cheikh
Publikováno v: Pteridines, Vol 26, Iss 1, Pp 37-40 (2015)
A rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a41b125c02b68b3054e4c37f590eaf
https://doi.org/10.1515/pterid-2014-0016
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7
Holoprosencephaly with agenesia of the prosencephalic ventricle
Autor: Milena Laure-Kamionowska, Krystyna Szymańska, Teresa Klepacka
Publikováno v: Folia neuropathologica. 53(4)
Malformations of the forebrain are characterized by abnormalities in size, shape, and arrangement of the cerebral hemispheres and ventricles. We present the morphological picture of a brain with failure of the forebrain complementary to holoprosencep
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b78eaf19a7164b3ce7fffafa4741abb
https://pubmed.ncbi.nlm.nih.gov/26785373
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8
Akademický článek
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10
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis
Autor: Barone, C, Bartoloni, Giovanni, Cataliotti, A, Indaco, L, Pappalardo, E, Barrano, B, Ettore, G, Bianca, S.
Publikováno v: Congenital anomalies. 52(1)
Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::40ececa666e45f810f89fcc722016ee8
https://pubmed.ncbi.nlm.nih.gov/22348786
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