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Hilde Brems

Showing results (21-30 of 72) with videos related to

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Journal of Medical Genetics|January 30, 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?Marie-Anne Morren, Heidi Fodstad, Hilde Brems, et al.
Stem Cell Research|June 5, 2026
Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patientsSeppe Van der Auweraer, Moritz B Roth, Katerina Vlahos, et al.
Genes, Chromosomes & Cancer|May 16, 2012
Biallelic inactivation of NF1 in a sporadic plexiform neurofibromaEline Beert, Hilde Brems, Marleen Renard, et al.
The Journal of Biological Chemistry|December 5, 2015
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Yasuko Hirata, Hilde Brems, Mayu Suzuki, et al.
Journal of Cutaneous Pathology|July 13, 2021
An update on congenital melanocytic nevus syndrome: A case report and literature reviewLilaf Abdulmajid, Francesca Maria Bosisio, Hilde Brems, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|June 19, 2016
Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materialsReinhard E Friedrich, Tobias J Grob, Silke Hollants, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Gastroenterology|November 8, 2006
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRAThomas de Raedt, Jan Cools, Maria Debiec-Rychter, et al.
Pediatric Dermatology|July 15, 2020
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemiaLien Mestach, Satyamaanasa Polubothu, Alistair Calder, et al.
Genes, Chromosomes & Cancer|January 18, 2012
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumorsDouglas R Stewart, Alexander Pemov, Peter Van Loo, et al.
Pageof 8

Showing results (21-30 of 72) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|January 30, 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?Marie-Anne Morren, Heidi Fodstad, Hilde Brems, et al.
Stem Cell Research|June 5, 2026
Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patientsSeppe Van der Auweraer, Moritz B Roth, Katerina Vlahos, et al.
Genes, Chromosomes & Cancer|May 16, 2012
Biallelic inactivation of NF1 in a sporadic plexiform neurofibromaEline Beert, Hilde Brems, Marleen Renard, et al.
The Journal of Biological Chemistry|December 5, 2015
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Yasuko Hirata, Hilde Brems, Mayu Suzuki, et al.
Journal of Cutaneous Pathology|July 13, 2021
An update on congenital melanocytic nevus syndrome: A case report and literature reviewLilaf Abdulmajid, Francesca Maria Bosisio, Hilde Brems, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|June 19, 2016
Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materialsReinhard E Friedrich, Tobias J Grob, Silke Hollants, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Gastroenterology|November 8, 2006
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRAThomas de Raedt, Jan Cools, Maria Debiec-Rychter, et al.
Pediatric Dermatology|July 15, 2020
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemiaLien Mestach, Satyamaanasa Polubothu, Alistair Calder, et al.
Genes, Chromosomes & Cancer|January 18, 2012
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumorsDouglas R Stewart, Alexander Pemov, Peter Van Loo, et al.
Pageof 8