Joann N Bodurtha

Professor

1974 …2019
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Research Output 1974 2019

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46 chromosomes and me

Bodurtha, J. N., Apr 2012, In : Journal of Genetic Counseling. 21, 2, p. 173-174 2 p.

Research output: Contribution to journalArticle

46XY/47XYY mosaicism and fragile X [2]

Bodurtha, J. N., Jackson-Cook, C., Maddalena, A., Piserchio, J. & Waller, R., 1993, In : Clinical Genetics. 44, 2, p. 109-110 2 p.

Research output: Contribution to journalArticle

XYY Karyotype
Fragile X Syndrome
Mosaicism
Newborn Infant

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J. N., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L. C. & Scherer, S. W., 2001, In : Nature Genetics. 29, 3, p. 321-325 5 p.

Research output: Contribution to journalArticle

Williams Syndrome
Base Pairing
Haploinsufficiency
Pulsed Field Gel Electrophoresis
Interphase

A 17-month-old with extreme prenatal-onset growth delay

Tekin, M., Ng, J. & Bodurtha, J. N., 2000, In : European Journal of Pediatrics. 159, 12, p. 926-928 3 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Dwarfism
Microcephaly
Fetal Growth Retardation
Bone and Bones

A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics

Smith, A. J., Turner, E. L., Kinra, S., Bodurtha, J. N. & Chien, A. T., May 1 2018, In : Journal of Pediatrics. 196, p. 201-207.e2

Research output: Contribution to journalArticle

Hyperlipidemias
Cholesterol
Pediatrics
Costs and Cost Analysis
LDL Lipoproteins

Acute myocarditis: Rapid diagnosis by PCR in children

Martin, A. B., Webber, S., Fricker, F. J., Jaffe, R., Demmler, G., Kearney, D., Zhang, Y. H., Bodurtha, J. N., Gelb, B., Ni, J., Bricker, J. T. & Towbin, J. A., Jul 1994, In : Circulation. 90, 1, p. 330-339 10 p.

Research output: Contribution to journalArticle

Myocarditis
Polymerase Chain Reaction
Viral Genome
Adenoviridae
Enterovirus

A doctor in purgatory: Etching with watercolor (1802)

Bodurtha, J. N., Apr 1976, In : Journal of the History of Medicine and Allied Sciences. 31, 2, p. 215 1 p.

Research output: Contribution to journalArticle

Etching
Doctors
19th Century History
Caricatures
Engraving and Engravings
Physicians
Caricature

Affect of late-onset prenatal care on antenatal diagnosis.

Bodurtha, J. N., Corey, L. & Nance, W. E., Nov 1986, In : Virginia Medical. 113, 11, p. 673-676 4 p.

Research output: Contribution to journalArticle

A genetic perspective on infant mortality

Causey, T. N., Bodurtha, J. N. & Ford, N., May 2010, In : Southern Medical Journal. 103, 5, p. 440-444 5 p.

Research output: Contribution to journalArticle

Infant Mortality
Sudden Infant Death
Low Birth Weight Infant
Genetic Polymorphisms
Public Health

AMEN in challenging conversations: Bridging the gaps between faith, hope, and medicine

Cooper, R. S., Ferguson, A., Bodurtha, J. N. & Smith, T. J., Jul 1 2014, In : Journal of Oncology Practice. 10, 4, p. e191-e195

Research output: Contribution to journalArticle

Hope
Medicine
Delivery of Health Care

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2

Deak, K. L., Dickerson, M. E., Linney, E., Enterline, D. S., George, T. M., Melvin, E. C., Graham, F. L., Siegel, D. G., Hammock, P., Mehltretter, L., Bassuk, A. G., Kessler, J. A., Gilbert, J. R., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T. & 13 others, Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S., Mack, P., Meeropol, E., Lasarsky, N., McLone, D., Ito, J., Oakes, W. J., Walker, M., Peterson, P. & Iskandar, B., Nov 2005, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 73, 11, p. 868-875 8 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Tretinoin
Vitamin A
Spinal Dysraphism
Alleles

Analysis of variability of clinical manifestations in Waardenburg syndrome

Reynolds, J. E., Meyer, J. M., Landa, B., Stevens, C. A., Arnos, K. S., Israel, J., Marazita, M. L., Bodurtha, J. N., Nance, W. E. & Diehl, S. R., 1995, In : American Journal of Medical Genetics. 57, 4, p. 540-547 8 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Deafness
Fathers
Statistical Factor Analysis
Mothers

A novel mutation in the gene encoding Noggin is not causative in human neural tube defects

Bauer, K. A., George, T. M., Enterline, D. S., Stottmann, R. W., Melvin, E. C., Siegel, D., Samal, S., Hauser, M. A., Klingensmith, J., Nye, J. S., Speer, M. C., Aben, J., Aylsworth, A., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S., Iskandar, B., Ohm, B. & 6 others, Lasarsky, N., McLone, D., Ito, J., Jerry Oakes, W., Walker, M. & Peterson, P., 2002, In : Journal of Neurogenetics. 16, 1, p. 65-71 7 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Mutation
Genes
Alleles
Meningomyelocele

Aortic stiffness: A new Doppler echocardiographic measure predictive of systolic blood pressure in children

Schieken, R. M., Moskowitz, W. B., Bodurtha, J. N., Mosteller, M., Eaves, L. & Nance, W., 1988, In : Journal of the American College of Cardiology. 11, 6, p. 1297-1300 4 p.

Research output: Contribution to journalArticle

Vascular Stiffness
Blood Pressure
Body Size
Thoracic Aorta
Heart Rate

Arthritis, bleeding disorder an a chromosome marker - A family study

Athreya, B. H., Bodurtha, J. N. & Nichols, W. W., 1987, In : Journal of Rheumatology. 14, 3, p. 535-539 5 p.

Research output: Contribution to journalArticle

Blood Coagulation Disorders
Chromosome Disorders
von Willebrand Diseases
Chromosomes, Human, Pair 21
Juvenile Arthritis

Ascertainment of families with hereditary deafness for linkage studies: Waardenburg and Usher syndromes

Stevens, C., Arnos, K., Bodurtha, J. N., Wright, L., Rawlings, B., Marazita, M., Nance, W. & Diehl, S., 1991, In : Annals of the New York Academy of Sciences. 630, p. 293-294 2 p.

Research output: Contribution to journalArticle

Assessment of the newborn with dysmorphic features.

Bodurtha, J. N., 1999, In : Neonatal network : NN. 18, 2, p. 27-30 4 p.

Research output: Contribution to journalArticle

Counseling

Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

Stern, H. J., Graham, J. M., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J. N., Ives, E. J., Bocian, M. & Rimoin, D. L., 1990, In : American Journal of Medical Genetics. 36, 2, p. 183-195 13 p.

Research output: Contribution to journalArticle

Enchondromatosis
Dwarfism
Names
Extremities

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Lee-Barber, J., Kulo, V., Lehmann, H. P., Hamosh, A. & Bodurtha, J. N., Jun 21 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-5 5 p.

Research output: Contribution to journalArticle

Genetic Databases
Clinical Competence
Medical Education
Computational Biology
Medical Students

Brief clinical report: Progressive bilateral nasal alar collapse: A dominantly inherited trait

Cole, H., Bodurtha, J. N., Salbert, B. A. & Wolf, B., 1992, In : American Journal of Medical Genetics. 42, 1, p. 88-89 2 p.

Research output: Contribution to journalArticle

Dizygotic Twins
Nuclear Family
Nose
Wounds and Injuries
Bilateral Nasal Alar Collapse

Café au lait spots: The pediatrician's perspective

Tekin, M., Bodurtha, J. N. & Riccardi, V. M., 2001, In : Pediatrics in review / American Academy of Pediatrics. 22, 3, p. 82-90 9 p.

Research output: Contribution to journalArticle

Pigmentation Disorders
Cafe-au-Lait Spots
Neurofibromatosis 2
Fanconi Anemia
Tuberous Sclerosis

Case report: Partial trisomy 20q (20q13.13- >qter)

Sax, C. M., Bodurtha, J. N. & Brown, J. A., 1986, In : Clinical Genetics. 30, 6, p. 462-465 4 p.

Research output: Contribution to journalArticle

Trisomy

Clinical models of telehealth in genetics: A regional telegenetics landscape

Terry, A. B., Wylie, A., Raspa, M., Vogel, B., Sanghavi, K., Djurdjinovic, L., Caggana, M. & Bodurtha, J. N., Jan 1 2019, In : Journal of Genetic Counseling.

Research output: Contribution to journalArticle

Telemedicine
Genetic Services
Videoconferencing
Technology
Telephone

Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study

Fleck, B. J., Pandya, A., Vanner, L., Kerkering, K. & Bodurtha, J. N., Feb 15 2001, In : American Journal of Medical Genetics. 99, 1, p. 1-7 7 p.

Research output: Contribution to journalArticle

Self-Help Groups
Nails
Intellectual Disability
Infection
Coffin-Siris syndrome

College women's awareness and consumption of folic acid for the prevention of neural tube defects

Quillin, J. M., Silberg, J., Board, P., Pratt, L. & Bodurtha, J. N., 2000, In : Genetics in Medicine. 2, 4, p. 209-213 5 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Folic Acid
Internal-External Control
Health
Behavioral Risk Factor Surveillance System
Health Behavior
Nuclear Family
Mothers
Breast Neoplasms

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs

Hamilton, J. & Bodurtha, J. N., 1989, In : Journal of Medical Genetics. 26, 4, p. 272-274 3 p.

Research output: Contribution to journalArticle

Hirschsprung Disease
Fathers
Mothers
Congenital central hypoventilation syndrome

Congenital hypopituitarism and microphthalmia. Report of two cases

Kaplowitz, P. B. & Bodurtha, J. N., 1993, In : Acta Paediatrica, International Journal of Paediatrics. 82, 4, p. 419-422 4 p.

Research output: Contribution to journalArticle

Growth Hormone
Weight Gain
Growth
Microphthalmos
Hypopituitarism

Counseling dilemmas in EEC syndrome

Tekin, M., Ohle, C., Johnson, D. E., Christmas, J. T. & Bodurtha, J. N., 2000, In : Genetic Counseling. 11, 1, p. 19-24 6 p.

Research output: Contribution to journalArticle

Cleft Lip
Cleft Palate
Counseling
Extremities
Ectrodactyly-cleft lip-palate syndrome

Defining underinsurance among children with special health care needs: A Virginia sample

Oswald, D. P., Bodurtha, J. N., Broadus, C. H., Willis, J. H., Tlusty, S. M., Bellin, M. H. & McCall, B. R., Jun 2005, In : Maternal and Child Health Journal. 9, 2 SUPPL.

Research output: Contribution to journalArticle

Delivery of Health Care
Logistic Models
Health Care Surveys
Economics
Demography

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features

Lee, R. W. Y., Bodurtha, J. N., Cohen, J., Fatemi, A. & Batista, D., 2013, In : Pediatric Neurology. 48, 4, p. 317-320 4 p.

Research output: Contribution to journalArticle

Language Development Disorders
Chondrogenesis
Intellectual Disability
Nervous System
Transcription Factors

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Ma, L., Bayram, Y., McLaughlin, H. M., Cho, M. T., Krokosky, A., Turner, C. E., Lindstrom, K., Bupp, C. P., Mayberry, K., Mu, W., Bodurtha, J. N., Weinstein, V., Zadeh, N., Alcaraz, W., Powis, Z., Shao, Y., Scott, D. A., Lewis, A. M., White, J. J., Jhangiani, S. N. & 8 others, Gulec, E. Y., Lalani, S. R., Lupski, J. R., Retterer, K., Schnur, R. E., Wentzensen, I. M., Bale, S. & Chung, W. K., Dec 1 2016, In : Human Genetics. 135, 12, p. 1399-1409 11 p.

Research output: Contribution to journalArticle

Protein Phosphatase 1
Intellectual Disability
Heart Diseases
Megalencephaly
Exome

Development of the Virginia Congenital Anomalies Reporting and Education System (VaCARES): Two pilot projects

Marazita, M. L., Bodurtha, J. N., Corey, L., Rogers, A., Barbosa, C. E., Funkhouser, L., Linyear, A. & Nance, W. E., 1992, In : Southern Medical Journal. 85, 6, p. 608-615 8 p.

Research output: Contribution to journalArticle

Education
Birth Certificates
Parturition
Parents
Incidence

Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome

Bodurtha, J. N., Kessel, A., Berman, W. & Hartenberg, M., 1986, In : Journal of Pediatrics. 109, 6, p. 1015-1017 3 p.

Research output: Contribution to journalArticle

Facial Asymmetry
Multiple Abnormalities
Ventricular Heart Septal Defects
Nails
Skull

Diversity in genetic counseling: Strategies from the LEND network

Hatchel, A., Willis, J., Reiser, C., Marion, R., Pariseau, C., Vanner-Nicely, L. & Bodurtha, J. N., Apr 2009, In : Journal of Genetic Counseling. 18, 2, p. 195-196 2 p.

Research output: Contribution to journalArticle

Cultural Diversity
Health Services Needs and Demand
Disabled Children
Genetic Counseling

DNA testing: diagnostic role in single gene conditions.

Bodurtha, J. N., Lloyd, J. & Tams, L., Mar 1992, In : Virginia medical quarterly : VMQ. 119, 2, p. 95-96 2 p.

Research output: Contribution to journalArticle

Fetal Diseases
Inborn Genetic Diseases
Prenatal Diagnosis
Pregnancy
DNA

Dominant myocardial disease diagnosed by fetal presentation of proband with an aneurysm of the muscular interventricular septum

Donofrio, M. T., Allen, D. R., Tekin, M. & Bodurtha, J. N., Jan 2002, In : Pediatric Cardiology. 23, 1, p. 27-31 5 p.

Research output: Contribution to journalArticle

Labor Presentation
Cardiomyopathies
Aneurysm
Fetus
Aneurysm Of Interventricular Septum

Duration of an intervention's impact on perceived breast cancer risk

Quillin, J. M., McClish, D. K., Jones, R. M., Wilson, D. B., Tracy, K. A., Bowen, D., Borzelleca, J. & Bodurtha, J. N., Dec 2008, In : Health Education and Behavior. 35, 6, p. 855-865 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Breast Cancer
Health Status Indicators
Health Behavior
Women's Health

Ehlers-Danlos Syndrome in Orthopaedics: Etiology, Diagnosis, and Treatment Implications

Shirley, E. D., DeMaio, M. & Bodurtha, J. N., Sep 2012, In : Sports Health. 4, 5, p. 394-403 10 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Orthopedics
Blood Vessels
Joint Instability
Collagen Type V
Conflict of Interest
Resource Allocation
Ethics
Decision Making
Clinical Ethics Committees

Evidence for a major gene in familial anencephaly

Shaffer, L. G., Marazita, M. L., Bodurtha, J. N., Newlin, A. & Nance, W. E., 1990, In : American Journal of Medical Genetics. 36, 1, p. 97-101 5 p.

Research output: Contribution to journalArticle

Anencephaly
Consanguinity
Spinal Dysraphism
Counseling
Fetus

Evolution of an integrated public health surveillance system.

Chapman, D. A., Ford, N., Tlusty, S. & Bodurtha, J. N., Mar 2011, In : Journal of registry management. 38, 1, p. 15-23 9 p.

Research output: Contribution to journalArticle

Public Health Surveillance
Birth Certificates
Hearing
Newborn Infant
Behavioral Genetics
Cross-Sectional Studies
DNA
Neoplasms
Genetic Testing
Palliative Care
Ehlers-Danlos Syndrome
Quality of Life
Fatigue
Primary Dysautonomias
Pediatrics

Factors influencing men's interest in gene testing for prostate cancer susceptibility

Culler, D. D., Silberg, J., Vanner-Nicely, L., Ware, J. L., Jackson-Cook, C. & Bodurtha, J. N., 2002, In : Journal of Genetic Counseling. 11, 5, p. 383-398 16 p.

Research output: Contribution to journalArticle

Genetic Testing
Prostatic Neoplasms
Genes
Costs and Cost Analysis
Population Genetics

Family health history and genetic services—the East Baltimore community stakeholder interview project

Sanghavi, K., Moses, I., Moses, D. W., Gordon, A., Chyr, L. & Bodurtha, J. N., Jan 1 2018, (Accepted/In press) In : Journal of Community Genetics.

Research output: Contribution to journalArticle

Medical History Taking
Baltimore
Interviews
Health Promotion
Genetic Services

Family Ties: The Role of Family Context in Family Health History Communication about Cancer

Rodríguez, V. M., Corona, R., Bodurtha, J. N. & Quillin, J. M., Mar 3 2016, In : Journal of Health Communication. 21, 3, p. 346-355 10 p.

Research output: Contribution to journalArticle

Medical History Taking
Health Communication
cancer
Health
communication

Femoral duplication: A case report

Bodurtha, J. N., Coutinho, M., Benator, R., Nogi, J., Sholley, M. & Nance, W. E., 1989, In : American Journal of Medical Genetics. 33, 2, p. 165-169 5 p.

Research output: Contribution to journalArticle

Thigh
Meningocele
Lower Extremity