Cathy A Stevens Selected Research

Ablepharon macrostomia syndrome

12/2013

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

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Cathy A Stevens Research Topics

Disease

2	Neurologic Manifestations (Neurological Manifestations) 01/2020 - 01/2020
1	Neurodevelopmental Disorders 01/2022
1	Seizures (Absence Seizure) 01/2021
1	Alopecia (Baldness) 01/2020
1	Hemolytic Anemia 01/2020
1	Muscular Diseases (Myopathy) 01/2020
1	Phosphoglycerate Kinase 1 Deficiency 01/2020
1	Disease Progression 01/2020
1	Hypertelorism 01/2020
1	Heart Arrest (Cardiac Arrest) 01/2019
1	Lymphatic Metastasis 01/2018
1	Hyperplasia 01/2018
1	Fraser Syndrome 12/2013
1	Ablepharon macrostomia syndrome 12/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 07/2011
1	Microcephaly 06/2011
1	Type II Microcephalic Osteodysplastic Primordial Dwarfism 06/2011
1	Hypoventilation 10/2006
1	Acrocephalosyndactylia (Apert Syndrome) 07/2006

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2011
1	Amino Acids FDA Link 01/2021
1	EnzymesIBA 01/2020
1	Proto-Oncogene Proteins c-fos (FRAs)IBA 12/2013
1	Centrosomal Associated ProteinsIBA 06/2011
1	polyalanineIBA 10/2006
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 07/2006

Therapy/Procedure

1	Anesthesia 01/2020
1	Blood Transfusion (Blood Transfusions) 01/2020
1	Physical Therapy Modalities (Physical Therapy Technique) 01/2020
1	Resuscitation 01/2019
1	Thyroidectomy 01/2018
1	Neck Dissection (Radical Neck Dissection) 01/2018