Zobrazeno 1 - 10 of 109 pro vyhledávání: '"Lobar holoprosencephaly"'
1
Akademický článek
Possibilities of the ultrasound method in the diagnosis of pathology of the septal region. Literature review and clinical cases
Autor: S. Yu. Cherdantseva, E. B. Olkhova, Yu. E. Cherdantseva, O. P. Kanailova, N. V. Gorbacheva
Publikováno v: Сибирский научный медицинский журнал, Vol 43, Iss 4, Pp 44-54 (2023)
Disorder of the formation of the cavum septum pellucidum (CSP) occurs in a wide range of pathologies of the brain. Its identification from 18 to 37 weeks is a necessary rule of prenatal screening, which must also be performed in postnatal studies of
Externí odkaz: https://doaj.org/article/523121803944407aaff9f073b152a588
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2
Akademický článek
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function
Autor: Maisa Seppala, Guilherme M. Xavier, Chen-Ming Fan, Martyn T. Cobourne
Publikováno v: Biology Open, Vol 3, Iss 8, Pp 728-740 (2014)
Holoprosencephaly is a heterogeneous developmental malformation of the central nervous system characterized by impaired forebrain cleavage, midline facial anomalies and wide phenotypic variation. Indeed, microforms represent the mildest manifestation
Externí odkaz: https://doaj.org/article/af71c1c5213042fc8a12b838fdd6e115
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3
Aventriculi associated with holoprosencephaly in a dog
Autor: Laura M. Lee, Lauren Blume, Starr Cameron, Laura Barnard, Alexane Durand
Publikováno v: Journal of Veterinary Internal Medicine
Barnard, Laura; Durand, Alexane; Blume, Lauren; Lee, Laura; Cameron, Starr (2020). Aventriculi associated with holoprosencephaly in a dog. Journal of veterinary internal medicine, 34(6), pp. 2682-2686. Wiley-Blackwell 10.1111/jvim.15907
Case Description A 10‐month‐old neutered male mixed breed dog was presented for assessment of poorly controlled seizures. Clinical Findings Magnetic resonance imaging of the brain disclosed complete absence of the lateral and third ventricles and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ea84077f568c69af47448bb5664c0a
http://europepmc.org/articles/PMC7694808
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4
Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report
Autor: Jesse N. Thuo, Mosiany Letura Kisipan, Caleb Oburu Orenge, Rodi O. Ojoo, Phillip O. Nyakego, Samuel N. Nyaga
Publikováno v: Veterinary Medicine and Science
Veterinary Medicine and Science, Vol 6, Iss 3, Pp 454-461 (2020)
Background Holoprosencephaly is a forebrain deformity that results from varying degrees of separation failure of cerebral hemispheres. The condition is classified based on the degree of non‐separation of the hemispheres which, in turn, determines i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5a356fc875212b56552d41bef37c24
https://doi.org/10.1002/vms3.244
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5
MRI imaging of prenatal-postatal brain malformations
Autor: Amila Sidran, Muris Bečirčić, Deniz Bulja, Adi Behmen, Sandra Vegar-Zubović, Merim Jusufbegović
Publikováno v: Radiology Case Reports
Radiology Case Reports, Vol 16, Iss 6, Pp 1511-1513 (2021)
A fetus with suspicion for holoprosencephaly and various brain malformations were seen on ultrasound and send for magnetic resonance imaging (MRI). Immediately after the birth of the female patient ultrasound and MRI was made which confirmed lobar ho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6710dd371d4b281e57a692eae46f76a
http://europepmc.org/articles/PMC8082043
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6
Holoprosencephaly in Kabuki syndrome
Autor: Tara Daly, Ganeshwaran H. Mochida, Olaf Bodamer, Abra Roberts, Edward Yang
Publikováno v: American Journal of Medical Genetics Part A. 182:441-445
Kabuki syndrome is a rare, multi-systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated clinical phenotype is a direct result of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d8d4ba9acc8b4e5dc6eec998125e105
https://doi.org/10.1002/ajmg.a.61454
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8
Keratan sulfate proteoglycan as an axonal insulating barrier in the forebrain of fetuses with alobar/semi-lobar holoprosencephaly
Autor: Weiming Yu, Laura Flores-Sarnat, Harvey B. Sarnat
Publikováno v: Clinical neuropathology. 40(2)
Background Keratan sulfate (KS) is an abundant proteoglycan in the developing human CNS where it functions as an extracellular axonal guidance molecule, repelling glutamatergic while facilitating GABAergic axons. It ensheaths axonal fascicles. In fet
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c4815724e54ab5ef08900059f43adc0
https://pubmed.ncbi.nlm.nih.gov/33287953
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9
Vax1Plays an Indirect Role in the Etiology of Murine Cleft Palate
Autor: Maisa Seppala, Guilherme M. Xavier, Finn Geoghegan, Martyn T. Cobourne, Anahid A. Birjandi
Publikováno v: Geoghegan, F, Xavier, G M, Ahmadi Birjandi, A, Seppala, M & Cobourne, M T 2017, ' Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate ', Journal of Dental Research, vol. 96, no. 13, pp. 1555-1562 . https://doi.org/10.1177/0022034517724145
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c81fa84d91fa4ee4f8165bf1db43ddd
https://doi.org/10.1177/0022034517724145
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