نتائج البحث - "Inguinal freckling"

1

Satisfaction from surgical treatment and its’ influence on comfort of feeling in patients with Recklinghausen disease

المؤلفون: Marta Fijałkowska, Bogusław Antoszewski

المصدر: Polish Journal of Surgery. 92:31-37

مصطلحات موضوعية: Inguinal freckling, medicine.medical_specialty, Pregnancy, Pediatrics, business.industry, General Medicine, Disease, medicine.disease, Plastic surgery, Café au lait spot, medicine, Neurofibroma, Surgery, medicine.symptom, Neurofibromatosis, Surgical treatment, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f789451295b960acbb34fdc081036e2cTest
https://doi.org/10.5604/01.3001.0014.1541Test

2

Longitudinal phenotype development in a minipig model of neurofibromatosis type 1

المؤلفون: 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

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

مصطلحات موضوعية: Inguinal freckling, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Time Factors, Swine, lcsh:Medicine, Article, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, Track disease, medicine, Animals, Humans, Neurofibroma, Neurofibromatosis, lcsh:Science, neoplasms, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Tibia, medicine.diagnostic_test, business.industry, Neurodegenerative diseases, lcsh:R, Autosomal dominant trait, Magnetic resonance imaging, Translational research, medicine.disease, Magnetic Resonance Imaging, Phenotype, eye diseases, nervous system diseases, Experimental models of disease, Disease Models, Animal, Disease Progression, Swine, Miniature, lcsh:Q, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery, Large animal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcc3e0aa800cac64bd4272b20105f2dTest
http://link.springer.com/article/10.1038/s41598-020-61251-4Test

3

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex

المؤلفون: Nesia Kropach, Osnat Konen, Rivka Friedland, Rony Cohen, Gad Dotan, Mika Shapira Rootman, Yael Goldberg, Helen Toledano, Inbal Keidar

المصدر: Clinical Genetics. 97:296-304

مصطلحات موضوعية: Male, 0301 basic medicine, Inguinal freckling, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Genetic counseling, 030105 genetics & heredity, Fluid-attenuated inversion recovery, DNA Mismatch Repair, 03 medical and health sciences, Tuberous sclerosis, Neoplastic Syndromes, Hereditary, Tuberous Sclerosis, Neoplasms, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neurofibromatosis, Child, Genetics (clinical), Brain Neoplasms, business.industry, Cafe-au-Lait Spots, Cancer, medicine.disease, Hypomelanotic macule, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Female, DNA mismatch repair, Colorectal Neoplasms, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a62896db12fa0e7515d56755afa55f3Test
https://doi.org/10.1111/cge.13656Test

4

Malignant triton tumor in the setting of segmental neurofibromatosis: A rare case report and review of the literature

المؤلفون: Charlotte J. Huie, Christopher D. Witiw, Aaron Hockley, Andrew S. Jack, Line Jacques, Rosanna Wustrack

المصدر: Interdisciplinary Neurosurgery, Vol 24, Iss, Pp 101073-(2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec02252336a9f6b9743c855f0a1377bTest
http://www.sciencedirect.com/science/article/pii/S2214751920306344Test

5

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

المؤلفون: Mark Jean Aan Koh, Jerry C. Nagaputra, Hwee-Woon Lim, Eileen C.P. Lim, Maggie Brett, Ene-Choo Tan

المصدر: JAAD Case Reports, Vol 4, Iss 4, Pp 318-321 (2018)
JAAD Case Reports

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a556dc4c7547b1555a1839b215689e0eTest
https://doi.org/10.1016/j.jdcr.2017.10.005Test

6

Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants

المؤلفون: Esra Isik, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Ozkinay

المصدر: Clinical Neurology and Neurosurgery. 208:106884

مصطلحات موضوعية: Adult, Male, Next-Generation Sequencing, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Inguinal freckling, Neurofibromatosis 1, Adolescent, Turkey, Germline, Genetic counseling, Young Adult, Intracranial hamartoma, Genes, Neurofibromatosis 1, medicine, Humans, Hamartoma, Neurofibromatosis, Child, Genetic Association Studies, Cancer, Neurofibromin 1, business.industry, Cafe-au-Lait Spots, Neurofibromatosis Type-1, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Middle Aged, Molecular Diagnosis, medicine.disease, Dermatology, Nf1 Gene, Management, Serous fluid, Phenotype, Child, Preschool, Ngs, Genotype-Phenotype Correlation, Mutation, Mutation (genetic algorithm), Medical genetics, Female, Surgery, Neurology (clinical), Ovarian cancer, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a6e3338a00541abb560ffafca825a5bTest
https://doi.org/10.1016/j.clineuro.2021.106884Test

7

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype

المؤلفون: Yong-Kwang Tay, Hui Li Kwong, Ene-Choo Tan

المصدر: F1000Research

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Inguinal freckling, congenital, hereditary, and neonatal diseases and abnormalities, media_common.quotation_subject, Nonsense mutation, Nonsense, Case Report, Mosaic (geodemography), Biology, General Biochemistry, Genetics and Molecular Biology, symbols.namesake, Exon, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, neurofibromatosis 1, medicine, Neurofibromatosis, General Pharmacology, Toxicology and Pharmaceutics, Gene, media_common, Sanger sequencing, Genetics, General Immunology and Microbiology, Articles, sequencing, General Medicine, medicine.disease, Phenotype, Neurofibromin 1, mosaicism, symbols, biology.protein, mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20e838035f8d464e342c95eab526b66Test
https://doi.org/10.12688/f1000research.28052.2Test

8

Pulmonary neurofibromatosis with bilateral bronchiectasis: A rare thoracic manifestation

المؤلفون: Surya Kant, Hemant Kumar, Jyoti Bajpai, Poornima Mishra, Manoj Kumar Pandey

المصدر: Indian Journal of Respiratory Care, Vol 10, Iss 1, Pp 132-135 (2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c48c17f5814b46414c43d6a4db8c9dTest
https://doi.org/10.4103/ijrc.ijrc_45_20Test

9

Augenbeteiligung bei Neurofibromatose

المؤلفون: M. Baier, S. Pitz

المصدر: Der Ophthalmologe. 113:443-452

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8234a15109652b6d57020a7c0bddc816Test
https://doi.org/10.1007/s00347-016-0237-5Test

10

Clinical and cytogenetic assessment of a cohort of Egyptian patients with Neurofibromatosis 1

المؤلفون: Maha M. Eid, Ola M. Eid, Ghada Y. El Kamah, Marwa Farid, Ghada M H Abdel-Salam

المصدر: Gene Reports. 18:100573

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31e38d1df9ee372f4265613795d65255Test
https://doi.org/10.1016/j.genrep.2019.100573Test

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