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Author/Creator Jansen, Anna C

1. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Issue 6 (3rd March 2017)

Authors:
Vandervore, Laura; Stouffs, Katrien; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G; Petit, Florence; Khau Van Kien, Philippe; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H; Jansen, Anna C
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
432
Record Type:
Journal Article
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4. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020)

Authors:
Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 1(2021)
Page Start:
33
Record Type:
Journal Article
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5. Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study. (2nd October 2021)

Authors:
De Ridder, Jessie; Kotulska, Katarzyna; Curatolo, Paolo; Jansen, Anna C; Aronica, Eleonora; Kwiatkowski, David J; Jansen, Floor E; Jóźwiak, Sergiusz; Lagae, Lieven
Other Names:
Anink J investigator.; Benova B investigator.; Benvenuto A investigator.; Blazejczyk M investigator.; Bongaarts A investigator.; Borkowska J investigator.; Breuillard D investigator.; Chmielewski D investigator.; Dabrowska M investigator.; Domańska‐Pakieła D investigator.; Emberti Gialloreti L in...
Journal:
Developmental medicine & child neurology
Issue:
Volume 64:Number 4(2022)
Page Start:
495
Record Type:
Journal Article
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6. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

Authors:
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Ga...
Journal:
Nucleic acids research
Issue:
Volume 47:Issue D1(2019)
Page Start:
D1018
Record Type:
Journal Article
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8. Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. Issue 10 (15th September 2020)

Authors:
Mühlebner, Angelika; van Scheppingen, Jackelien; de Neef, Andrew; Bongaarts, Anika; Zimmer, Till S; Mills, James D; Jansen, Floor E; Spliet, Wim G M; Krsek, Pavel; Zamecnik, Josef; Coras, Roland; Blumcke, Ingmar; Feucht, Martha; Scholl, Theresa; Gruber, Victoria-Elisabeth; Hainfellner, Johannes A...
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 79:Issue 10(2020)
Page Start:
1054
Record Type:
Journal Article
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9. Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly. Issue 8 (12th April 2021)

Authors:
Brock, Stefanie; Michotte, Alex; Doné, Elisa; Leus, Astrid; Cannie, Mieke; De Pierre, Kari; Forsyth, Ramses; Stouffs, Katrien; Keymolen, Kathelijn; Dimitrov, Boyan; Fieuw, Annelies; Jansen, Anna C; Van Berkel, Kim
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 80:Issue 8(2021)
Page Start:
807
Record Type:
Journal Article
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10. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Issue 2 (7th April 2022)

Authors:
Brock, Stefanie; Laquerriere, Annie; Marguet, Florent; Myers, Scott J; Hongjie, Yuan; Baralle, Diana; Vanderhasselt, Tim; Stouffs, Katrien; Keymolen, Kathelijn; Kim, Sukhan; Allen, James; Shaulsky, Gil; Chelly, Jamel; Marcorelle, Pascale; Aziza, Jacqueline; Villard, Laurent; Sacaze, Elise; de Wit...
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 2(2023)
Page Start:
183
Record Type:
Journal Article
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