Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
暂无分享,去创建一个
N. Mahdieh | M. Zarkesh | S. Dalili | Shahin Koohmanaee | A. Tarang | Manijeh Tabrizi | Seyyedeh Azade Hoseini Nouri | Reza Bayat | Setila Dalili
[1] Y. Ni,et al. A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report , 2022, Journal of clinical research in pediatric endocrinology.
[2] M. Zenker,et al. Noonan syndrome: improving recognition and diagnosis , 2022, Archives of Disease in Childhood.
[3] R. Capșa,et al. Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy , 2021 .
[4] C. Wolf,et al. European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe. , 2021, European journal of medical genetics.
[5] G. Fekete,et al. Diagnostic difficulties and possibilities of NF1-like syndromes in childhood , 2021, BMC Pediatrics.
[6] H. Martelli Júnior,et al. Cafe-au-lait spots as a clinical sign of syndromes , 2021, Research, Society and Development.
[7] K. Hunt,et al. Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020 , 2021, JAMA network open.
[8] M. Ramón-Krauel,et al. [Noonan syndrome: genetic and clinical update and treatment options]. , 2020, Anales de pediatria.
[9] Zhen Zhang,et al. Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report , 2020, BMC Pediatrics.
[10] T. Atik,et al. A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia , 2020, Journal of clinical research in pediatric endocrinology.
[11] M. Maleki,et al. Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance , 2018, Journal of clinical laboratory analysis.
[12] H. Cavé,et al. Genotype and phenotype spectrum of NRAS germline variants , 2017, European Journal of Human Genetics.
[13] M. Maleki,et al. MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation. , 2017, International journal of pediatric otorhinolaryngology.
[14] D. Tester,et al. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. , 2016, JCI insight.
[15] D. Vidaud,et al. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome , 2016, Journal of clinical research in pediatric endocrinology.
[16] Yoichi Matsubara,et al. Recent advances in RASopathies , 2015, Journal of Human Genetics.
[17] M. Summar,et al. Malignancy in Noonan syndrome and related disorders , 2015, Clinical genetics.
[18] Ying Liu,et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation , 2015, Human mutation.
[19] R. Ferner,et al. Neurofibromatosis-related tumors: emerging biology and therapies , 2015, Current opinion in pediatrics.
[20] Philippe M. Campeau,et al. Genotype-Phenotype Correlation , 2014 .
[21] John D McPherson,et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome , 2014, Proceedings of the National Academy of Sciences.
[22] W. Mason. THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES , 2014 .
[23] S. Huson,et al. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation , 2012, European Journal of Human Genetics.
[24] Y. Zhang,et al. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality. , 2012, Genetics and molecular research : GMR.
[25] S. Ekvall,et al. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1 , 2009, Clinical genetics.
[26] M. Digilio,et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum , 2009, Human mutation.
[27] Yoichi Matsubara,et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome , 2007, Journal of Medical Genetics.
[28] D. Stevenson,et al. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype , 2006, Clinical genetics.
[29] Kam Y. J. Zhang,et al. Germline KRAS mutations cause Noonan syndrome , 2006, Nature Genetics.
[30] L. Radfar,et al. A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. , 2004, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.
[31] Ş. Ayter,et al. Neurofibromatosis—Noonan's Syndrome With Associated Rhabdomyosarcoma of the Urinary Bladder in an Infant: Case Report , 2003, Journal of child neurology.
[32] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[33] Bruce D Gelb,et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. , 2002, American journal of human genetics.
[34] J. Friedman,et al. Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children , 2000, Neurology.
[35] A. Sommer,et al. Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. , 1999, Journal of pediatric hematology/oncology.
[36] J. Opitz,et al. Noonan phenotype associated with neurofibromatosis. , 1985, American journal of medical genetics.
[37] G D'Hont,et al. [The Noonan syndrome]. , 1982, Acta oto-rhino-laryngologica Belgica.