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141 results for Encephalocele+-+diagnosis

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ArticlesPeer ReviewedFull Text
Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Author / Creator:Barisic, Ingeborg ; Boban, Ljubica ; Loane, Maria ; Garne, Ester ; Wellesley, Diana ; Calzolari, Elisa ; Dolk, Helen ; Addor, Marie-Claude ; Bergman, Jorieke EH ; Braz, Paula ; Draper, Elizabeth S ; Haeusler, Martin ; Khoshnood, Babak ; Klungsoyr, Kari ; Pierini, Anna ; Queisser-Luft, Annette ; Rankin, Judith ; Rissmann, Anke ; Verellen-Dumoulin, Christine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.746-752
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Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review
Author / Creator:Campobasso, Gianluca ; Mercuri, Ludovica ; De Razza, Francesca ; Cosentino, Antonella ; Mele, Marta ; Monittola, Antonella ; Congedo, Carmen ; Calò, Maria Chiara ; Scalcione, Caterina ; D’Amuri, Alessandro ; Mauro, Salvatore ; Lattante, Serena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-05, Vol.16 (6), p.643
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Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment
Author / Creator:Krzesinski, E.I. ; Geerts, L. ; Urban, M.F.
Publisher:Health and Medical Publishing Group (HMPG)
Journal title:South African medical journal, 2019-09, Vol.109 (9), p.698-703
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Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case
Author / Creator:Bruechle, Nadia Ortiz ; Steuernagel, Peter ; Zerres, Klaus ; Kurth, Ingo ; Eggermann, Thomas ; Knopp, Cordula
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2017-10, Vol.32 (10), p.1989-1992
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Automated Pupillometry and Detection of Clinical Transtentorial Brain Herniation: A Case Series
Author / Creator:Papangelou, Alexander ; Zink, Elizabeth K ; Chang, Wan-Tsu W ; Frattalone, Anthony ; Gergen, Daniel ; Gottschalk, Allan ; Geocadin, Romergryko G
Publisher:England: Oxford University Press
Journal title:Military medicine, 2018-01, Vol.183 (1-2), p.e113-e121
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Giant prolactinoma with progressive cranial settling and central herniation: a case report
Author / Creator:Shahbazi, Taha ; Abdollahi Yeganeh, Soheil ; Borzouei, Shiva ; Arjipour, Mahdi
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2024-12, Vol.18 (1), p.604-6, Article 604
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Procalcitonin as a Biomarker for Malignant Cerebral Edema in Massive Cerebral Infarction
Author / Creator:Zhang, Yan ; Liu, Gang ; Wang, Yuan ; Su, Yingying ; Leak, Rehana K. ; Cao, Guodong
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-01, Vol.8 (1), p.993-6, Article 993
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Prenatal diagnosis of a transsphenoidal meningoencephalocele
Author / Creator:Marroun, Nour ; Lecomte, Sophie ; Cannie, Mieke ; Carlin, Andrew James
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2025-04, Vol.18 (4), p.e261750
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Author / Creator:Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey ; Thomas, Sophie ; Ben-Zeev, Bruria ; Bertini, Enrico ; Boltshauser, Eugen ; Chaouch, Malika ; Roberta Cilio, Maria ; de Jong, Mirjam M ; Kayserili, Hulya ; Ogur, Gonul ; Poretti, Andrea ; Signorini, Sabrina ; Uziel, Graziella ; Zaki, Maha S ; Johnson, Colin ; Attié-Bitach, Tania ; Gleeson, Joseph G ; Valente, Enza Maria
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078
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A boy with a sac-like protrusion at the occipital region
Author / Creator:Zhou, Yong-Hai ; Zheng, Ming-Hua
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ (Online), 2016-04, Vol.353, p.i2073-i2073
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An Enlarged Parietal Foramen in the Late Archaic Xujiayao 11 Neurocranium from Northern China, and Rare Anomalies among Pleistocene Homo
Author / Creator:Wu, Xiu-Jie ; Xing, Song ; Trinkaus, Erik
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-03, Vol.8 (3), p.e59587-e59587
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An uncommon etiological factor for aspiration pneumonitis caused by spontaneous sphenoid sinus meningoencephalocele with cerebrospinal fluid rhinorrhea: a case report
Author / Creator:Cao, Jiayu ; Liu, Wei ; Wang, Li ; Yang, Yujuan ; Zhang, Yu ; Song, Xicheng
Publisher:England: BioMed Central Ltd
Journal title:BMC pulmonary medicine, 2021-07, Vol.21 (1), p.254-254, Article 254
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Clinical utility gene card for: Meckel syndrome – update 2016
Author / Creator:Bergmann, Carsten ; Frank, Valeska ; Salonen, Riitta
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.3-3
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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Author / Creator:Watson, Christopher M. ; Crinnion, Laura A. ; Berry, Ian R. ; Harrison, Sally M. ; Lascelles, Carolina ; Antanaviciute, Agne ; Charlton, Ruth S. ; Dobbie, Angus ; Carr, Ian M. ; Bonthron, David T.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2016-01, Vol.17 (1), p.1, Article 1
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Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Pollak, Agnieszka ; Kostrzewa, Grazyna ; Stawinski, Piotr ; Biela, Mateusz ; Ploski, Rafal ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-07, Vol.12 (7), p.1078
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RAISED INTRACRANIAL PRESSURE
Author / Creator:Dunn, Laurence T
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2002-09, Vol.73 (suppl 1), p.i23-i27
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Sinking Skin Flaps, Paradoxical Herniation, and External Brain Tamponade: A Review of Decompressive Craniectomy Management
Author / Creator:Akins, Paul T. ; Guppy, Kern H.
Publisher:New York: Humana Press Inc
Journal title:Neurocritical care, 2008-10, Vol.9 (2), p.269-276
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Hepatorenal fibrocystic diseases in children
Author / Creator:Park, Eujin ; Lee, Jiwon M. ; Ahn, Yo Han ; Kang, Hee Gyung ; Ha, II Soo ; Lee, Joo Hoon ; Park, Young Seo ; Kim, Nayoung K. D. ; Park, Woong-Yang ; Cheong, Hae II
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2016-01, Vol.31 (1), p.113-119
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A dural arteriovenous fistula associated with an encephalocele presenting as otitis media with effusion
Author / Creator:Ahmed, W ; Connor, S ; Obholzer, R ; Pai, I
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Journal of laryngology and otology, 2018-11, Vol.132 (11), p.1032-1035
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Kernohan's notch
Author / Creator:Camacho Velasquez, Jose Luis ; Rivero Sanz, Elena ; Santos Lasaosa, Sonia ; Lopez del Val, Javier
Publisher:England: BMJ Publishing Group LTD
Journal title:Practical neurology, 2015-06, Vol.15 (3), p.221-221
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Showing 1 to 20 of 141 results

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Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

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Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review

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Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment

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Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case

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Automated Pupillometry and Detection of Clinical Transtentorial Brain Herniation: A Case Series

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Giant prolactinoma with progressive cranial settling and central herniation: a case report

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Procalcitonin as a Biomarker for Malignant Cerebral Edema in Massive Cerebral Infarction

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Prenatal diagnosis of a transsphenoidal meningoencephalocele

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

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A boy with a sac-like protrusion at the occipital region

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An Enlarged Parietal Foramen in the Late Archaic Xujiayao 11 Neurocranium from Northern China, and Rare Anomalies among Pleistocene Homo

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An uncommon etiological factor for aspiration pneumonitis caused by spontaneous sphenoid sinus meningoencephalocele with cerebrospinal fluid rhinorrhea: a case report

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Clinical utility gene card for: Meckel syndrome – update 2016

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

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Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

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RAISED INTRACRANIAL PRESSURE

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Sinking Skin Flaps, Paradoxical Herniation, and External Brain Tamponade: A Review of Decompressive Craniectomy Management

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Hepatorenal fibrocystic diseases in children

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A dural arteriovenous fistula associated with an encephalocele presenting as otitis media with effusion

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Kernohan's notch

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