Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
About 5 –10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from ho... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 6, 2024 Category: Genetics & Stem Cells Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant and Meena Upadhyaya Tags: Research Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Arch Environ Occup Health. 2024 Mar 4:1-5. doi: 10.1080/19338244.2024.2320634. Online ahead of print.ABSTRACTNeurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Addit...
Source: Archives of Environmental and Occupational Health - March 5, 2024 Category: Environmental Health Authors: Defne Kalayc ı Mehmet Maruf Ayd ın Levent Özdemir Source Type: research
