Disease: Neurofibromatosis-Noonan syndrome
- A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke
- A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma
- A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
- A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype
- A Novel Heterozygous <em>NF1</em> Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
- A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
- A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
- Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report
- Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
- Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?
- Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome
- Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia
- Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)
- Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis
- Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association
- Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
- Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
- Genetic and pathogenetic aspects of Noonan syndrome and related disorders
- Genetics of neurofibromatosis 1 and the NF1 gene
- Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome
- Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
- Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?
- KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis
- LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria
- LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
- Lethal presentation of neurofibromatosis and Noonan syndrome
- Multiple café au lait spots in familial patients with MAP2K2 mutation
- Neurofibromatosis with fully expressed Noonan syndrome
- Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases
- Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
- Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma
- Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report
- Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors
- Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway
- Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
- Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis
- Neurologic and other disorders in relatives of pediatric patients with CNS tumors
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
- Noonan syndrome and its related disorders
- Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1
- Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported
- Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome
- Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
- Orbital and Lumbosacral Plexiform Neurofibroma with PTPN11 Mutation: A Form of the RASopathy
- PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype
- Rasopathies - dysmorphic syndromes with short stature and risk of malignancy
- Reproductive failure in a patient with neurofibromatosis-Noonan syndrome
- The neurofibromatosis-Noonan syndrome
- The neurofibromatosis-Noonan syndrome: 4 cases
- The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature
- Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications
- Vertical transmission of the neurofibromatosis/Noonan syndrome