Costello Syndrome
What's New
Last Posted: Jan 20, 2024
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Olga Boleti, et al. ESC heart failure 2024 0 - Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Atilano Carcavilla, et al. Journal of clinical medicine 2023 0 (15) - Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds Esteban, et al. British journal of cancer 2023 0 - Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki Ikumi, et al. Human genetics 2018 0 (1) 21-35 - Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee Chung-Lin, et al. American journal of medical genetics. Part A 2019 0 (2) 357-364 - Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.
Urban J, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 0 (3) 601-607 - Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton Josefina, et al. Archivos argentinos de pediatria 2019 0 (5) 330-337 - Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study.
Leoni Chiara, et al. American journal of medical genetics. Part A 2021 0 (2) 422-430 - Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.
Ríos-González Blanca E, et al. Clinical dysmorphology 2021 0 (2) 55-58 - Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
Pelc Magdalena, et al. Clinical dysmorphology 2016 0 (2) 83-90 - Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Leoni Chiara, et al. Orphanet journal of rare diseases 2021 0 (1) 43 - Germline Cancer Predisposition Variants in?Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Li He, et al. Journal of the National Cancer Institute 2020 0 (7) 875-883 - Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi Tomoko, et al. Human mutation 2010 0 (3) 284-94 - [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May - Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Kuehne Benjamin et al. Molecular and cellular probes 2019 Mar - Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
L Geddes, Mosaic, September 18, 2018 - Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 - Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
Jhang Won Kyoung, et al. Pediatric cardiology 2016 8 - Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz C P, et al. British journal of cancer 2015 3 - Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
McCormick Elizabeth M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2013 7 (7) 554-7 - Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
Lee Beom Hee, et al. The Journal of pediatrics 2011 12 (6) 1029-35 - Costello syndrome
From NCATS Genetic and Rare Diseases Information Center - High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
Lo Fu-Sung, et al. Clinica chimica acta; international journal of clinical chemistry 2009 11 (1-2) 75-7
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- Page last reviewed:Feb 1, 2024
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