External ear anomalies and hearing impairment in Noonan Syndrome.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  International Journal of Pediatric Otorhinolaryngology

• Publication date

  2015-06-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.ijporl.2015.03.021PMID 25862627
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

  2011cited by this paper
• Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

  2010cited by this paper
• Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

  2009cited by this paper
• Bilateral cochlear implantation in children with Noonan syndrome.

  2009cited by this paper
• Germline gain-of-function mutations in SOS1 cause Noonan syndrome

  2007cited by this paper
• Noonan syndrome

  2007cited by this paper
• Germline gain-of-function mutations in RAF1 cause Noonan syndrome

  2007cited by this paper
• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

  2006cited by this paper
• Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

  2006cited by this paper
• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  2006cited by this paper
• Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

  2001cited by this paper
• Temporal bone histopathological study of Noonan syndrome.

  2001cited by this paper
• Noonan's syndrome with sensorineural hearing loss and vestibular abnormalities

  1998cited by this paper
• Audiologic Manifestations of Noonan Syndrome

  1998cited by this paper
• Clinical and molecular studies in a large Dutch family with Noonan syndrome.

  1994cited by this paper
• Ocular manifestations of Noonan syndrome

  1992cited by this paper
• A clinical study of Noonan syndrome.

  1992cited by this paper
• Letter: Hearing loss in Noonan syndrome.

  1976cited by this paper
• Hearing loss in Noonan syndrome.

  1976influential reference

• Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies

  2025cites this paper
• Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

  2025cites this paper
• Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature

  2024cites this paper
• CHARGE syndrome with early fetal ear abnormalities: A case report

  2024cites this paper
• The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media.

  2024cites this paper
• Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.

  2023cites this paper
• Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

  2023cites this paper
• Co‐Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management

  2023influential citation
• How common are ear, nose and throat disorders in children with Noonan syndrome and other RASopathies?

  2023cites this paper
• Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency

  2022influential citation
• Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

  2022cites this paper
• Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review

  2022cites this paper
• Third reported patient with RAP1B‐related syndromic thrombocytopenia and novel clinical findings

  2022cites this paper
• [Cochlear implantation in a patient with Noonan syndrome caused by a variant in PTPN11: a case report].

  2021cites this paper
• Prevalence of hearing screening failures in low‐risk childhood cancer survivors

  2021cites this paper
• Insulin-like Growth Factor 1 Signaling in Mammalian Hearing

  2021cites this paper
• The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

  2020cites this paper
• Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

  2020cites this paper
• Mitochondrial functions and rare diseases.

  2020cites this paper
• Young children with Noonan syndrome: evaluation of feeding problems

  2020cites this paper
• Case Series Outcomes of Cochlear Implantation in Children with Noonan Syndrome

  2019cites this paper
• Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

  2019cites this paper
• 3D Ultrasound Evaluation of the Fetal Outer Ear: Novel Biometry Ratio and Comparison of Different Surface Display Modes

  2019cites this paper
• Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.

  2019cites this paper
• Algorithm of hearing monitoring of children with congenital heart disease

  2019cites this paper
• Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

  2018cites this paper
• Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis

  2018cites this paper
• Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

  2018cites this paper
• Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations

  2018cites this paper
• Low-set ears and associated anomalies in human foetuses.

  2018cites this paper
• Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

  2017cites this paper
• Hipoacusia infantil: un estudio retrospectivo de prevalencia, detección precoz y actuación en el complejo hospitalario y universitario de Albacete

  2017cites this paper
• The auditory function of infants with congenital heart diseases

  2017cites this paper
• Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

  2017cites this paper
• Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

  2017cites this paper
• The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss

  2017cites this paper
• Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome

  2017cites this paper
• Expansion of the RASopathies

  2016cites this paper
• Heritability and genetic risk factors in Finnish families with childhood otitis media

  2016cites this paper
• Pragmatic language impairment in children with Noonan syndrome

  2016cites this paper
• Audiological findings in Noonan syndrome.

  2016cites this paper
• Pathogenetics of the RASopathies.

  2016cites this paper