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Primitive neuroectodermal tumours (PNETs) located in the spinal canal; the relevance of classification as central or peripheral PNET

• W. A. Kampman, Johann M. Kros, T.H.R. De Jong, Maarten H Lequin
• Journal of Neuro-Oncology
• 2005

Intraspinal location of central PNET (cPNET) is very rare. We present a case, critically review all publications of primary intraspinal cPNET occurrence and discuss tendencies in clinical… (More)

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

• M. C. Y. de Wit, Irenaeus F M de Coo, +6 authors Grazia M S Mancini
• Neurogenetics
• 2006

Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient… (More)

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

• Marije E C Meuwissen, Rachel Schot, +25 authors Grazia M S Mancini
• The Journal of experimental medicine
• 2016

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital… (More)

Automated Airway Lumen Segmentation and characterization for use in Patients with Traqueomalacya : a Feasibility study

• Piotr Wielopolski, Pierluigi Ciet, Gabriel P. Krestin, Maarten H Lequin, Harm A. Tiddens, Rashindra Manniesing
• 2009

P. A. Wielopolski, P. Ciet, G. P. Krestin, M. H. Lequin, H. Tiddens, and R. Manniesing Radiology, Erasmus Medical Center, Rotterdam, Zuid-Holland, Netherlands, Department of Medical-Diagnostic… (More)

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

• Marije E C Meuwissen, Linda S de Vries, +9 authors Grazia M S Mancini
• Neurology
• 2011

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

• Renske Oegema, Annelies J E M M de Klein, +14 authors Grazia M S Mancini
• Molecular syndromology
• 2010

Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and… (More)

Human mutations in integrator complex subunits link transcriptome integrity to brain development

• Renske Oegema, David Baillat, +18 authors Grazia M S Mancini
• PLoS genetics
• 2017

Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human… (More)

Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis

• Aart M. Verwest, Marnix Poelman, +7 authors Ronald R. de Krijger
• Virchows Archiv
• 2000

Pancreatic agenesis is a rare condition, of which only a limited number of cases have been described. One recent paper reported a homozygous mutation in the pancreatic duodenal homeobox gene 1… (More)

MRI Changes in the Thalamus and Basal Ganglia of Full-Term Neonates with Perinatal Asphyxia.

• Ken Imai, Linda S de Vries, +6 authors Floris Groenendaal
• Neonatology
• 2018

BACKGROUND Magnetic resonance imaging (MRI) is the standard neuroimaging technique to assess perinatal asphyxia-associated brain injury in full-term infants. Diffusion-weighted imaging (DWI) is most… (More)

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

• Renske Oegema, David Baillat, +19 authors Grazia M S Mancini
• PLoS genetics
• 2017

[This corrects the article DOI: 10.1371/journal.pgen.1006809.].

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