Results 41 to 50 of about 33,733 (216)
Gazi Medical JournalObjective: Neurofibromatosis type 1 (NF1) is a genetic disorder presenting primary with variable patterns of skin pigmentation, neurofibromas and iris Lisch nodules.
Şule Altıner, Alper Han Çebi
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Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study
Orphanet Journal of Rare Diseases, 2018 Background Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall ...
Jussi Leppävirta +6 more
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The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
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Abnormal peripheral blood cell counts in neurofibromatosis type 1
Scientific Reports, 2022 Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant disease characterized by neurofibromas with infiltration of mast cells.
Yoshimasa Nobeyama +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene
Genomics, 2005 Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by haploinsufficiency of the NF1 gene and of gene(s) located in adjacent flanking regions. Most of the NF1 deletions originate by nonallelic homologous recombination between repeated sequences (REP-P and -M) mapped to 17q11.2, while a few uncommon deletions show unusual breakpoints.
C. Gervasini +7 more
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NF1 Gene and Neurofibromatosis 1 [PDF]
American Journal of Epidemiology, 2000 Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria.
S A, Rasmussen, J M, Friedman
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Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
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Outlook for Neurofi bromatosis Type I Research in the Republic of Bashkortostan
Креативная хирургия и онкология, 2020 Neurofi bromatosis type I (NF1) is a common hereditary tumour syndrome with autosomal dominant type of inheritance. Average worldwide incidence rate of NF1 is 1:3000, equal in men and women.
R. N. Mustafin, E. K. Khusnutdinova
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