Evaluation of the Relationship between Fascioscapulohumeral Dystrophy and Noonan Syndrome

Evaluation of the Relationship between Fascioscapulohumeral Dystrophy and Noonan Syndrome

Saved in:

Bibliographic Details
Main Authors:	Ahmet Akpnar, Eren Gözke
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2025-04-01
Series:	Neurological Sciences and Neurophysiology
Online Access:	https://journals.lww.com/10.4103/nsn.nsn_1_25
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Common variable immunodeficiency in a patient with Noonan syndrome
by: Öner Özdemir, et al.
Published: (2024-11-01)

Everolimus therapy in an infant with Noonan syndrome with multiple lentigines
by: Mani Ram Krishna, et al.
Published: (2025-01-01)

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
by: Surasak Puvabanditsin, et al.
Published: (2018-01-01)

Editorial: Endocrine aspects of Noonan syndrome and related syndromes, volume II
by: Laura Mazzanti, et al.
Published: (2025-02-01)

THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME
by: Güven Toksoy, et al.
Published: (2021-01-01)

Unexpected cause of headache in a patient with Noonan syndrome: aseptic meningitis
by: Hacer Efnan Melek Arsoy, et al.
Published: (2024-09-01)

Lichenoid Drug Eruption Secondary to Growth Hormone in a Case of Noonan’s Syndrome
by: Uffra Shaikh, et al.
Published: (2025-04-01)

['Dental Care in an adolescent female with Noonan Syndrome: A Case Report', 'Atención Odontológica en una adolescente con Síndrome de Noonan: Reporte de un caso', 'Assistência odontológica em adolescente com Síndrome de Noonan: Relato de caso']
by: Fernanda Gonzalez, et al.
Published: (2021-10-01)

Síndrome de Noonan. Presentación de caso
by: Daniuby Pérez Aguedo, et al.
Published: (2018-05-01)

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
by: Didier Bessis, et al.
Published: (2025-04-01)

Life-Threatening Obstructive Sleep Apnea Caused by Adenoid Hypertrophy in an Infant with Noonan Syndrome
by: Sonia Khirani, et al.
Published: (2012-01-01)

P435: ACTC1 variants result in a phenotype resembling Noonan syndrome
by: Yuri Zarate, et al.
Published: (2025-01-01)

Trametinib alters contractility of paediatric Noonan syndrome‐associated hypertrophic myocardial tissue slices
by: Jules Hamers, et al.
Published: (2025-06-01)

Noonan-Like Syndrome with Loose Anagen Hair: Genetic and Phenotypic Variability, Differential Diagnosis
by: Svetlana Ya. Volgina, et al.
Published: (2025-07-01)

A mother and son with Noonan syndrome resulting from a PTPN11 mutation
by: Murat Derbent
Published: (2011-02-01)

A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
by: Chie Bujo, et al.
Published: (2023-08-01)

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
by: Boonchai Boonyawat, et al.
Published: (2019-01-01)

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies
by: Seung Jae Lee, et al.
Published: (2025-04-01)

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
by: Zeyu Yang, et al.
Published: (2025-07-01)

Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement
by: Linghua Fan, et al.
Published: (2025-01-01)

Transcatheter closure of atrial septal defect in a patient with Noonan syndrome after corrective surgery
by: Mangovski Ljupčo, et al.
Published: (2015-01-01)

Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome
by: Christopher L. Newman, et al.
Published: (2017-01-01)

Guillain-Barré Syndrome Presenting with Facial Diplegia Due to SARS-CoV-2 Infection: A Case Series and Current Literature Review
by: Kadriye Guleda Keskin, et al.
Published: (2023-06-01)

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review
by: Yuki Kobayashi, et al.
Published: (2025-06-01)

Intestinal ganglioneuromatosis of the ileum and colon in a pediatric patient: a case report associated with Noonan syndrome
by: Carvajalino-Galeano Ana Beatriz, et al.
Published: (2025-09-01)

NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW
by: A. A. Bukaeva, et al.
Published: (2016-10-01)

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant
by: Ying Wang, et al.
Published: (2025-06-01)

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up
by: Antonia Pascarella, et al.
Published: (2024-10-01)

Abernethy malformation (Type II) presenting in a 6-day-old boy with Noonan syndrome: a case report
by: Yujuan Wang, et al.
Published: (2025-07-01)

Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
by: Zhengjiu Cui, et al.
Published: (2024-12-01)

Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome
by: Nihayatul Karimah
Published: (2024-08-01)

Relationship between muscle strength and motor function in Duchenne muscular dystrophy
by: Milene F. Nunes, et al.
Published: (2016-07-01)

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report
by: Teresa Kaczan, et al.
Published: (2019-06-01)

Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report
by: Nobuhiko Koga, et al.
Published: (2025-06-01)

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
by: Yusuke Goto, et al.
Published: (2025-04-01)

A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts
by: Sevim Balci, et al.
Published: (2003-04-01)

A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey
by: Korcan Demir, et al.
Published: (2010-06-01)

Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type
by: I. Casal, et al.
Published: (2017-01-01)

Reporte de un caso con síndrome de Noonan con prolapso de la válvula mitral
by: Vladimir Gonzalez, et al.
Published: (2012-11-01)

Proceso de Atención de Enfermería en pacientes con Síndrome de Noonan y sus etapas
by: Yoni Tejeda Dilou, et al.
Published: (2025-03-01)