Physician
Medical Genetics
Dr. Cathy A. Stevens, MD
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Doctor Cathy A. Stevens, MD is an expert in the field of Medical Genetics. Cathy A. Stevens, MD is a published doctor. He published 42 publications, including: 'Patellar dislocation in Rubenstein-Taybi syndrome.' He accepts Medicare payments and is listed with Medicare.gov.
Publications
- Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.
- Investigation of NRXN1 deletions: Clinical and molecular characterization.
- Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.
- Adults with Rubinstein-Taybi syndrome.
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
- Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
- New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.
- Steinfeld syndrome: Further delineation.
- Familial odontoid hypoplasia.
- The hair collar sign.
- Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
- PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
- Significance of bifid epiglottis.
- Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
- Rubinstein-Taybi syndrome medical guidelines.
- Ablepharon-macrostomia syndrome.
- Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q.
- Innovations in human genetics education. Medical student elective in clinical genetics.
- Tracheomalacia in Hallermann-Streiff syndrome.
- Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.
- Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
- Analysis of variability of clinical manifestations in Waardenburg syndrome.
- Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11.
- Malformations and deformations in abdominal pregnancy.
- The telecanthus-hypospadias syndrome.
- Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.
- Craniofacial malformations and their syndromes. An overview for the speech and hearing practitioner.
- Development of human palmar and digital flexion creases.
- Cardiac abnormalities in the Rubinstein-Taybi syndrome.
- Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
- Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.
- Growth in the Rubinstein-Taybi syndrome.
- Etiology and recurrence risk in Rubinstein-Taybi syndrome.
- Di George anomaly and velocardiofacial syndrome.
- Report of two cases of distal deletion of the long arm of chromosome 6.
- Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
- Patellar dislocation in Rubenstein-Taybi syndrome.
- Rubinstein-Taybi syndrome: a natural history study.
- Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
Schools
University of Tennessee Memphis College of Medicine amp Surgery
University Tn Center Health Scis
University Ut
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna
- Amerigroup (Wellpoint)
- Assurant Health
- Blue Card PPO
- Blue Network E
- Network S
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Open Access Plus
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- HealthSmart
- Humana
- MedHealthInsurance
- Medicaid
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- Tricare
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
- WellCare
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1740208750 |
| Last Name Of The Provider | STEVENS |
| First Name Of The Provider | CATHY |
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