Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study

Autor: Cecilie Ejerskov, Stense Farholt, Flemming Secher Kromann Nielsen, Ingunn Berg, Stine Bogetofte Thomasen, Aparna Udupi, Trude Ågesen, Sofie de Fine Licht, Mette Møller Handrup

Publikováno v: Oncology and Therapy, Vol 11, Iss 1, Pp 97-110 (2022)

Abstract Introduction Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural

Externí odkaz: https://doaj.org/article/25dcb177a4eb438fa7acbe2a23ac96a7

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Autor: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Publikováno v: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262acc
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK

Carriers of COL3A1 pathogenic variants in Denmark:Interfamilial variability in severity and outcome of elective surgical procedures

Autor: Sofus Sølyst, Riina Oksjoki, Stense Farholt, Dorte Guldbrand Nielsen, Alex H. Christensen, Christina R. Fagerberg, Lotte Risom, Pernille Axél Gregersen, Maria Bejerholm Christensen, Torsten Bloch Rasmussen, Birgitte Rode Diness

Publikováno v: Sølyst, S, Oksjoki, R, Farholt, S, Nielsen, D G, Christensen, A H, Fagerberg, C R, Risom, L, Gregersen, P A, Christensen, M B, Rasmussen, T B & Diness, B R 2022, ' Carriers of COL3A1 pathogenic variants in Denmark : Interfamilial variability in severity and outcome of elective surgical procedures ', Clinical Genetics, vol. 102, no. 3, pp. 191-200 . https://doi.org/10.1111/cge.14176

The study describes all patients in Denmark with vascular Ehlers–Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic COL3A1 variants were retrospectively identified through registries and specialized clinics. Medical records were re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff77533f9afc06aa90570cdcb5df2b51
https://pure.au.dk/portal/da/publications/carriers-of-col3a1-pathogenic-variants-in-denmark(b172aa78-a82a-467c-ad0d-486a3038d6e3).html

Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II

Autor: Goetz Benndorf, John Hauerberg, Lars Poulsgaard, Rasmus H. Dahl, Stense Farholt

Publikováno v: Clinical Neuroradiology. 31:871-874

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a7ff727cdda0370c84ee353b54e9592
https://doi.org/10.1007/s00062-021-01007-3

A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

Autor: Morten Duno, Alberte A. Lundquist, Nanna Witting, Malene Landbo Børresen, Flemming Wibrand, Elsebet Ostergaard, Stense Farholt

Publikováno v: Lundquist, A A, Farholt, S, Børresen, M L, Dunø, M, Wibrand, F, Witting, N & Østergaard, E 2021, ' A novel homoplasmic mt-tRNA Glu m.14701C >T variant presenting with a partially reversible infantile respiratory chain deficiency ', European Journal of Medical Genetics, vol. 64, no. 10, 104306 . https://doi.org/10.1016/j.ejmg.2021.104306

Background Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of symptoms. Objective To describe features of maternally related individuals with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52afde4d0bf69afcf0228455f8c5b5f3
https://pure.au.dk/portal/da/publications/a-novel-homoplasmic-mttrnaglu-m14701ct-variant-presenting-with-a-partially-reversible-infantile-respiratory-chain-deficiency(de36956a-8c02-4288-b4ff-1eb1609f04c0).html