Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Inguinal freckling"'
Publikováno v:
Polish Journal of Surgery. 92:31-37
lbgBackground:l/bg Neurofibromatosis type 1 (NF-1) is one of the most common autosomal dominant disorders. Multiple benign dermal neurofibromas, cafe au lait spots, axillary and inguinal freckling are the hallmarks of NF-1. lbrglbgAim:l/bg The aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f789451295b960acbb34fdc081036e2c
https://doi.org/10.5604/01.3001.0014.1541
https://doi.org/10.5604/01.3001.0014.1541
Autor:
Rajesh Khanna, Dawn E. Quelle, Johanna Uthoff, Kimberly E. Schroeder, Jared Larson, Jill M. Weimer, Frank Rohret, Benjamin W. Darbro, Takashi Shawn Sato, Christopher S. Rogers, David K. Meyerholz, Jessica C. Sieren, Emily Hammond
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports
Scientific Reports
Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presentations. Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcc3e0aa800cac64bd4272b20105f2d
http://link.springer.com/article/10.1038/s41598-020-61251-4
http://link.springer.com/article/10.1038/s41598-020-61251-4
Autor:
Nesia Kropach, Osnat Konen, Rivka Friedland, Rony Cohen, Gad Dotan, Mika Shapira Rootman, Yael Goldberg, Helen Toledano, Inbal Keidar
Publikováno v:
Clinical Genetics. 97:296-304
Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a62896db12fa0e7515d56755afa55f3
https://doi.org/10.1111/cge.13656
https://doi.org/10.1111/cge.13656
Autor:
Charlotte J. Huie, Christopher D. Witiw, Aaron Hockley, Andrew S. Jack, Line Jacques, Rosanna Wustrack
Publikováno v:
Interdisciplinary Neurosurgery, Vol 24, Iss, Pp 101073-(2021)
Introduction Malignant triton tumors (MTTs) are a rare and highly aggressive subtype of malignant peripheral nerve sheath tumors (MPNSTs) displaying rhabdomyoblastic differentiation. Similarly, segmental neurofibromatosis (SN) is a rare subtype of ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec02252336a9f6b9743c855f0a1377b
http://www.sciencedirect.com/science/article/pii/S2214751920306344
http://www.sciencedirect.com/science/article/pii/S2214751920306344
Autor:
Mark Jean Aan Koh, Jerry C. Nagaputra, Hwee-Woon Lim, Eileen C.P. Lim, Maggie Brett, Ene-Choo Tan
Publikováno v:
JAAD Case Reports, Vol 4, Iss 4, Pp 318-321 (2018)
JAAD Case Reports
JAAD Case Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a556dc4c7547b1555a1839b215689e0e
https://doi.org/10.1016/j.jdcr.2017.10.005
https://doi.org/10.1016/j.jdcr.2017.10.005
Publikováno v:
Clinical Neurology and Neurosurgery. 208:106884
Objective: Neurofibromatosis type 1 is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Wide spectrum of NF1-related clinical manifestations and mutation distribution makes genetic counselling diffic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a6e3338a00541abb560ffafca825a5b
https://doi.org/10.1016/j.clineuro.2021.106884
https://doi.org/10.1016/j.clineuro.2021.106884
Publikováno v:
F1000Research
Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20e838035f8d464e342c95eab526b66
https://doi.org/10.12688/f1000research.28052.2
https://doi.org/10.12688/f1000research.28052.2
Publikováno v:
Der Ophthalmologe. 113:443-452
Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are characterized by an autosomal dominant pattern of inheritance with irregular penetrance and a broad spectrum of different clinical phenotypes. There are large variations in the age of onset,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8234a15109652b6d57020a7c0bddc816
https://doi.org/10.1007/s00347-016-0237-5
https://doi.org/10.1007/s00347-016-0237-5
Publikováno v:
Indian Journal of Respiratory Care, Vol 10, Iss 1, Pp 132-135 (2021)
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant genetic disorder. The incidence of NF is 1 in 3000 individuals. Approximately one-half of the cases are familial, while the remaining occur sporadica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c48c17f5814b46414c43d6a4db8c9d
https://doi.org/10.4103/ijrc.ijrc_45_20
https://doi.org/10.4103/ijrc.ijrc_45_20
Publikováno v:
Gene Reports. 18:100573
Introduction Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by the presence of certain clinical manifestation. The most common clinical features are, hyperpigmented areas, neurofibromas and Lisch nodules of the iris. The di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31e38d1df9ee372f4265613795d65255
https://doi.org/10.1016/j.genrep.2019.100573
https://doi.org/10.1016/j.genrep.2019.100573