Disease: Freeman-Sheldon syndrome
- A case of blepharophimosis: Freeman Sheldon syndrome
- A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges
- A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann
- A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus
- A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions
- A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures
- A unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome"
- Anaesthesia challenges in Freeman-Sheldon syndrome
- Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery
- Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review
- Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery
- Anesthetic considerations in a parturient with Freeman-Sheldon syndrome
- Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery
- Anesthetic management of a patient with Freeman-Sheldon syndrome undergoing oral surgery: A case report
- Anesthetic management of a patient with Freeman-Sheldon syndrome: case report
- Anesthetic management of a patient with Freeman-Sheldon syndrome: case report and literature review
- Anesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report
- Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
- Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus
- Combined spinal-epidural anesthesia for a child with Freeman-Sheldon syndrome with difficult airway
- Comment on: anesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
- Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
- Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis
- Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism
- Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally
- Emergent Cesarean Delivery in a Patient With Freeman-Sheldon Syndrome Complicated by Preeclampsia, Acute Pulmonary Embolism, and Pulmonary Edema: A Case Report
- Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data
- Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
- Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1
- Finding disease variants in Mendelian disorders by using sequence data: methods and applications
- Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis
- Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report
- Freeman-Burian syndrome
- Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report
- Freeman-sheldon syndrome
- Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study
- Freeman-Sheldon syndrome and respiratory obstruction: a novel use of distraction osteogenesis
- Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features
- Freeman-sheldon syndrome presenting with microstomia: a case report and literature review
- Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence?
- Freeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report
- Freeman-Sheldon syndrome--prenatal and postnatal diagnosis
- Freeman-Sheldon syndrome: a case report
- Freeman-Sheldon syndrome: a case report
- Freeman-Sheldon syndrome: a dental perspective
- Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia
- Freeman-Sheldon syndrome: case report and review of the literature
- Freeman-Sheldon syndrome: combined surgical and non-surgical approach
- Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
- Freeman-Sheldon syndrome. A case report and review of the literature
- Freeman-Sheldon's syndrome. Report of five cases
- Frontal bandeau reconstruction with a fibula flap in a patient with Freeman-Sheldon syndrome
- Genetic disorder plus prematurity: a diagnostic challenge
- Genotype-phenotype relationships in Freeman-Sheldon syndrome
- Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition
- Homologous mutations in <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mi>β</mml:mi></mml:math>, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
- Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
- Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
- Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment
- Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment
- Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment
- Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
- Identifying Mendelian disease genes with the variant effect scoring tool
- Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome
- Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)
- Malignant hyperthermia in a 3-year-old child with microstomia
- Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation
- Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila
- Myosin heavy chain-embryonic regulates skeletal muscle differentiation during mammalian development
- Neuroleptic malignant syndrome induced by metoclopramide in an infant with Freeman-Sheldon syndrome
- Nonoperative Orthodontic Therapy for Retrognathia and Finding of Sella Turcica Bridging in a 16-Year-Old Girl With Freeman-Burian Syndrome
- Northwest Indigenous Art and the Inspiring Spirits
- Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone
- Novel ophthalmic features of Freeman-Sheldon syndrome
- Oculoplastic surgery, diagnosis, and other matters in Freeman-Burian syndrome
- p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome
- Periocular Anomalies in Freeman-Sheldon Syndrome
- Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene
- Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency
- Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years
- Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report
- Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome
- Re: "Periocular Anomalies in Freeman-Sheldon Syndrome"
- Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome
- Reply Re: "Periocular Anomalies in Freeman-Sheldon Syndrome"
- Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)
- Revisiting the Many Names of Freeman-Sheldon Syndrome
- Severe skew foot deformity in a patient with freeman-sheldon syndrome
- Sheldon-Hall syndrome
- Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot
- Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected
- Surgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome
- Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction
- Targeted capture and massively parallel sequencing of 12 human exomes
- The application of exome sequencing in human disease
- The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
- The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects
- The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome
- UNC-45 assisted myosin folding depends on a conserved FX(3)HY motif implicated in Freeman Sheldon Syndrome