Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ieva Miceikaite"'
Autor:
Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J. Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E. Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K. Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T. Parsons, Thomas V. O. Hansen, Maria Rossing, Torben A. Kruse, Amanda B. Spurdle, Mads Thomassen
Publikováno v:
Breast Cancer Research, Vol 26, Iss 1, Pp 1-14 (2024)
Abstract Background Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods We identified two families with a BRCA1 in-frame ex
Externí odkaz:
https://doaj.org/article/7555813f6f454c71871a5c318d759708
Autor:
Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring
Publikováno v:
Clinical Case Reports, Vol 9, Iss 7, Pp n/a-n/a (2021)
Abstract We describe two clinical prenatal cases with rare de novo RIT1 variants, which showed more severe clinical manifestations than other Noonan Syndrome genotypes, resulting in fetal death. Extra attention is recommended when these variants are
Externí odkaz:
https://doaj.org/article/6d473086e247468db446ff70bf5d864e
Autor:
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
ABSTRACT Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose cau
Externí odkaz:
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
Autor:
Geske S. Bak, Pernille Mathiesen Tørring, Britta Schlott Kristiansen, Martin Jakob Larsen, Ieva Miceikaite
Publikováno v:
Clinical Case Reports, Vol 9, Iss 7, Pp n/a-n/a (2021)
Miceikaite, I, Bak, G S, Larsen, M J, Kristiansen, B S & Torring, P M 2021, ' Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death ', Clinical Case Reports, vol. 9, no. 7, e04507 . https://doi.org/10.1002/ccr3.4507
Clinical Case Reports
Miceikaite, I, Bak, G S, Larsen, M J, Kristiansen, B S & Torring, P M 2021, ' Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death ', Clinical Case Reports, vol. 9, no. 7, e04507 . https://doi.org/10.1002/ccr3.4507
Clinical Case Reports
We describe two clinical prenatal cases with rare de novo RIT1 variants, which showed more severe clinical manifestations than other Noonan Syndrome genotypes, resulting in fetal death. Extra attention is recommended when these variants are detected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122db795c406f30e94b1d4d35bfc2406
https://doi.org/10.1002/ccr3.4507
https://doi.org/10.1002/ccr3.4507
Autor:
Martine Doco-Fenzy, Smrithi Salian, Emma Palmer, Mariasavina Severino, Beth Hudson, Elisabetta Amadori, Martin Jakob Larsen, Christina Fagerberg, Lene Sperling, Lucas Herissant, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Anna C.E. Hurst, Valeria Capra, Annalaura Torella, Ieva Miceikaite, Pasquale Striano, Megan Boothe, Melanie Jennesson, Andrea Accogli, Vincenzo Nigro, Marcello Scala, Philippe M. Campeau, Tawfeg Ben-Omran, Michele Pinelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e07c5935003afbd27fb4b8e19ad3868c
https://doi.org/10.1111/cge.14033/v2/response1
https://doi.org/10.1111/cge.14033/v2/response1
Autor:
Anna C.E. Hurst, Christina Fagerberg, Lene Sperling, Marcello Scala, Lucas Herissant, Martine Doco-Fenzy, Emma Palmer, Beth Hudson, Melanie Jennesson, Martin Jakob Larsen, Elisabetta Amadori, Vincenzo Nigro, Andrea Accogli, Smrithi Salian, Pasquale Striano, Annalaura Torella, Michele Pinelli, Ieva Miceikaite, Megan Boothe, Valeria Capra, Tawfeg Ben-Omran, Mariasavina Severino, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Philippe M. Campeau
Publikováno v:
Salian, S, Scala, M, Nguyen, T T M, Severino, M, Accogli, A, Amadori, E, Torella, A, Pinelli, M, Hudson, B, Boothe, M, Hurst, A, Ben-Omran, T, Larsen, M J, Fagerberg, C R, Sperling, L, Miceikaite, I, Herissant, L, Doco-Fenzy, M, Jennesson, M, Nigro, V, Striano, P, Minetti, C, Sachdev, R K, Palmer, E E, Capra, V & Campeau, P M 2021, ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ', Clinical Genetics, vol. 100, no. 5, pp. 607-614 . https://doi.org/10.1111/cge.14033
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3fe22c0aedd460712ac6f3bb7a46121
http://hdl.handle.net/11588/873440
http://hdl.handle.net/11588/873440
Autor:
Lilian Bomme Ousager, Anette Drøhse Kjeldsen, Katrine S. Aagaard, Martin Jakob Larsen, Klaus Brusgaard, Emilie B. Lester, Pernille Mathiesen Tørring, Ieva Miceikaite
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Aagaard, K S, Brusgaard, K, Miceikaite, I, Larsen, M J, Kjeldsen, A D, Lester, E B, Ousager, L B & Tørring, P M 2020, ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1498 . https://doi.org/10.1002/mgg3.1498
Molecular Genetics & Genomic Medicine
Aagaard, K S, Brusgaard, K, Miceikaite, I, Larsen, M J, Kjeldsen, A D, Lester, E B, Ousager, L B & Tørring, P M 2020, ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1498 . https://doi.org/10.1002/mgg3.1498
Molecular Genetics & Genomic Medicine
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causative se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fcfc12b56672a105be32f086b1ebb6
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
Autor:
Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J., Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E., Skytte, Anne-Bine, Jensen, Uffe Birk, Høffding, Louise K., De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T., Hansen, Thomas V. O., Rossing, Maria, Kruse, Torben A., Spurdle, Amanda B.
Publikováno v:
Breast Cancer Research; 1/9/2024, Vol. 26 Issue 1, p1-14, 14p
Autor:
Miceikaite, Ieva1,2 (AUTHOR), Bak, Geske Sidsel3 (AUTHOR) geske.bak@rsyd.dk, Larsen, Martin Jakob1,2 (AUTHOR), Kristiansen, Britta Schlott1 (AUTHOR), Torring, Pernille Mathiesen1 (AUTHOR)
Publikováno v:
Clinical Case Reports. Jul2021, Vol. 9 Issue 7, p1-5. 5p.
Autor:
Miceikaitė, Ieva1,2 (AUTHOR) ieva.miceikaite@rsyd.dk, Brasch‐Andersen, Charlotte1,2 (AUTHOR), Fagerberg, Christina2 (AUTHOR), Larsen, Martin Jakob1,2 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2021, Vol. 9 Issue 4, p1-8. 8p.