Joann N Bodurtha

Professor

1974 …2019
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Research Output 1974 2019

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Article
2011

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

Genetic risk, perceived risk, and cancer worry in daughters of breast cancer patients

Quillin, J. M., Bodurtha, J. N., McClish, D. & Wilson, D. B., Apr 2011, In : Journal of Genetic Counseling. 20, 2, p. 157-164 8 p.

Research output: Contribution to journalArticle

Nuclear Family
Breast Neoplasms
Neoplasms
Genetic Testing
Referral and Consultation

Genetic screening and DNA banking at the end of life #206

Quillin, J. M., Bodurtha, J. N. & Smith, T. J., May 1 2011, In : Journal of Palliative Medicine. 14, 5, p. 656-657 2 p.

Research output: Contribution to journalArticle

Professional-Family Relations
Terminal Care
Genomic Library
Genetic Testing
DNA

Impact of co-occurring birth defects on the timing of newborn hearing screening and diagnosis

Chapman, D. A., Stampfel, C. C., Bodurtha, J. N., Dodson, K. M., Pandya, A., Lynch, K. B. & Kirby, R. S., Dec 1 2011, In : American Journal of Audiology. 20, 2, p. 132-139 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Hearing
Newborn Infant
Registries
Birth Certificates

Interdisciplinary research career development: Building interdisciplinary research careers in women's health program best practices

Domino, S. E., Bodurtha, J. N. & Nagel, J. D., Nov 1 2011, In : Journal of Women's Health. 20, 11, p. 1587-1601 15 p.

Research output: Contribution to journalArticle

Women's Health
Practice Guidelines
Research
Health Services Research
National Institutes of Health (U.S.)

Physicians' current practices and opportunities for DNA banking of dying patients with cancer

Quillin, J. M., Bodurtha, J. N., Siminoff, L. A. & Smith, T. J., May 2011, In : Journal of Oncology Practice. 7, 3, p. 183-187 5 p.

Research output: Contribution to journalArticle

Physicians
DNA
Palliative Care
Neoplasms
Genetic Counseling
2010

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
Cross-Sectional Studies
DNA
Neoplasms
Genetic Testing
Palliative Care

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Johnston, J. J., Sapp, J. C., Turner, J. T., Amor, D., Aftimos, S., Aleck, K. A., Bocian, M., Bodurtha, J. N., Cox, G. F., Curry, C. J., Day, R., Donnai, D., Field, M., Fujiwara, I., Gabbett, M., Gal, M., Graham, J. M., Hedera, P., Hennekam, R. C. M., Hersh, J. H. & 33 others, Hopkin, R. J., Kayserili, H., Kidd, A. M. J., Kimonis, V., Lin, A. E., Lynch, S. A., Maisenbacher, M., Mansour, S., Mcgaughran, J., Mehta, L., Murphy, H., Raygada, M., Robin, N. H., Rope, A. F., Rosenbaum, K. N., Schaefer, G. B., Shealy, A., Smith, W., Soller, M., Sommer, A., Stalker, H. J., Steiner, B., Stephan, M. J., Tilstra, D., Tomkins, S., Trapane, P., Tsai, A. C. H., Van Allen, M. I., Vasudevan, P. C., Zabel, B., Zunich, J., Black, G. C. M. & Biesecker, L. G., Oct 2010, In : Human Mutation. 31, 10, p. 1142-1154 13 p.

Research output: Contribution to journalArticle

Spectrum Analysis
Phenotype
Mutation
Genetic Association Studies
Pallister-Hall Syndrome
2009

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

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Paznekas, W. A., Karczeski, B., Vermeer, S., Lowry, R. B., Delatycki, M., Laurence, F., Koivisto, P. A., Van Maldergem, L., Boyadjiev, S. A., Bodurtha, J. N. & Jabs, E. W., May 2009, In : Human Mutation. 30, 5, p. 724-733 10 p.

Research output: Contribution to journalArticle

Connexin 43
Gap Junctions
Phenotype
Mutation
Spastic Paraparesis

Mammography screening after risk-tailored messages: The Women Improving Screening through Education and Risk Assessment (WISER) randomized, controlled trial

Bodurtha, J. N., Quillin, J. M., Tracy, K. A., Borzelleca, J., McClish, D., Wilson, D. B., Jones, R. M., Quillin, J. & Bowen, D., Jan 1 2009, In : Journal of Women's Health. 18, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

Mammography
Randomized Controlled Trials
Education
Breast
Breast Neoplasms

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Chang, W., Barnes, A. M., Cabral, W. A., Bodurtha, J. N. & Marini, J. C. B., Oct 21 2009, In : Human Molecular Genetics. 19, 2, p. 223-234 12 p., ddp481.

Research output: Contribution to journalArticle

Hydroxylation
Endoplasmic Reticulum
Cartilage
Collagen
Null Lymphocytes

Variations in breast cancer screening and health behaviors by age and race among attendees of women's health clinics

Wilson, D. B., McClish, D., Tracy, K., Quillin, J., Jones, R. & Bodurtha, J. N., Jun 2009, In : Journal of the National Medical Association. 101, 6, p. 528-535 8 p.

Research output: Contribution to journalArticle

Health Behavior
Women's Health
Early Detection of Cancer
Breast Neoplasms
Mammography
2008

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

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects

Deak, K. L., Siegel, D. G., George, T. M., Gregory, S., Ashley-Koch, A., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S., Mack, P., Meeropol, E., Lasarsky, N., McLone, D. & 5 others, Ito, J., Oakes, W. J., Walker, M., Peterson, P. & Iskandar, B., Oct 2008, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 82, 10, p. 662-669 8 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Mothers
Dizygotic Twins
Recurrence
Meningomyelocele

Genetics assessment at the end of life: Suggestions for implementation in clinic and future research

Quillin, J. M., Bodurtha, J. N. & Smith, T. J., Apr 1 2008, In : Journal of Palliative Medicine. 11, 3, p. 451-458 8 p.

Research output: Contribution to journalArticle

Palliative Care
Genetic Testing
Colonic Neoplasms
DNA
Cardiovascular Diseases

Refinement of 2q and 7p loci in a large multiplex NTD family

Stamm, D. S., Siegel, D. G., Mehltretter, L., Connelly, J. J., Trott, A., Ellis, N., Zismann, V., Stephan, D. A., George, T. M., Vekemans, M., Ashley-Koch, A., Gilbert, J. R., Gregory, S. G., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T. & 11 others, Buran, C., Bodurtha, J. N., Sawin, K., Mack, P., Meeropol, E., Lasarsky, N., McLone, D., Ito, J., Oakes, W. J., Walker, M. & Iskandar, B., Jun 2008, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 82, 6, p. 441-452 12 p.

Research output: Contribution to journalArticle

Genes
Fluorescence In Situ Hybridization
Chromosome Aberrations
Mutation
Chromosomes, Human, Pair 7

The effect of a school-based educational intervention on gender differences in reported family cancer history

Quillin, J. M., Bodurtha, J. N., McClish, D. K., Hoy, K. N., Wallace, I. J., Westerberg, A. & Danish, S. J., Jul 2008, In : Journal of Cancer Education. 23, 3, p. 180-185 6 p.

Research output: Contribution to journalArticle

Neoplasms
Breast Neoplasms
Genealogy and Heraldry
Genetic Testing
Mothers

The impact of family history of breast cancer and cancer death on women's mammography practices and beliefs

Tracy, K. A., Quillin, J. M., Wilson, D. B., Borzelleca, J., Jones, R. M., McClish, D., Bowen, D. & Bodurtha, J. N., Aug 2008, In : Genetics in Medicine. 10, 8, p. 621-625 5 p.

Research output: Contribution to journalArticle

Mammography
Breast Neoplasms
Neoplasms
Breast
Cross-Sectional Studies

Tolerance for ambiguity could influence awareness of breast cancer genetic testing and inform health education

Quillin, J. M., Silberg, J., Jones, R. M., Wilson, D. B., Maes, H., Bowen, D. & Bodurtha, J. N., Dec 2008, In : Cancer Causes and Control. 19, 10, p. 1227-1232 6 p.

Research output: Contribution to journalArticle

Genetic Testing
Health Education
Breast Neoplasms
Education
Women's Health
2007

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

Sundaram, U. T., McDonald-McGinn, D. M., Huff, D., Emanuel, B. S., Zackai, E. H., Driscoll, D. A. & Bodurtha, J. N., Sep 1 2007, In : American Journal of Medical Genetics, Part A. 143, 17, p. 2016-2018 3 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Amenorrhea
Uterus
Learning
Language Development Disorders

Recruiting diverse patients to a breast cancer risk communication trial - Waiting rooms can improve access

Bodurtha, J. N., Quillin, J. M., Tracy, K. A., Borzelleca, J., McClish, D., Wilson, D. B., Jones, R. M., Quillin, J. & Bowen, D., Aug 2007, In : Journal of the National Medical Association. 99, 8, p. 917-922 6 p.

Research output: Contribution to journalArticle

Uncompensated Care
Communication
Breast Neoplasms
Public Health Practice
Health
Physical and Rehabilitation Medicine
Pediatrics
Education
Rehabilitation

Underinsurance and key health outcomes for children with special health care needs

Oswald, D. P., Bodurtha, J. N., Willis, J. H. & Moore, M. B., Feb 2007, In : Pediatrics. 119, 2

Research output: Contribution to journalArticle

Delivery of Health Care
Logistic Models
Patient-Centered Care
Child Health
Social Welfare
2006

High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35

Stamm, D. S., Rampersaud, E., Slifer, S. H., Mehltretter, L., Siegel, D. G., Xie, J., Hu-Lince, D., Craig, D. W., Stephan, D. A., George, T. M., Gilbert, J. R., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T., Buran, C., Bodurtha, J. N. & 9 others, Sawin, K., Mack, P., Meeropol, E., Lasarsky, N., McLone, D., Ito, J., Oakes, W. J., Walker, M. & Iskandar, B., Jun 2006, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 76, 6, p. 499-505 7 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 7
Microsatellite Repeats
Chromosomes

Neural tube defects and folate pathway genes: Family-based association tests of gene-gene and gene-environment interactions

Boyles, A. L., Billups, A. V., Deak, K. L., Siegel, D. G., Mehltretter, L., Slifer, S. H., Bassuk, A. G., Kessler, J. A., Reed, M. C., Nijhout, H. F., George, T. M., Enterline, D. S., Gilbert, J. R., Speer, M. C., Aben, J., Alysworth, A., Bodurtha, J. N., Brei, T., Buran, C., Iskandar, B. & 11 others, Ito, J., Lasarsky, N., Mack, P., Meeropol, E., Mackey, J., McLone, D., Oakes, W. J., Powell, C., Sawin, K., Walker, M. & Worley, G., Oct 2006, In : Environmental Health Perspectives. 114, 10, p. 1547-1552 6 p.

Research output: Contribution to journalArticle

Gene-Environment Interaction
Neural Tube Defects
Betaine-Homocysteine S-Methyltransferase
Folic Acid
defect

Paternal Relatives and Family History of Breast Cancer

Quillin, J. M., Ramakrishnan, V., Borzelleca, J., Bodurtha, J. N., Bowen, D. & Baer Wilson, D., Sep 2006, In : American Journal of Preventive Medicine. 31, 3, p. 265-268 4 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mothers
Genomics
Medical History Taking
Women's Health

Spiritual coping, family history, and perceived risk for breast cancer - Can we make sense of it?

Quillin, J. M., McClish, D. K., Jones, R. M., Burruss, K. & Bodurtha, J. N., Dec 2006, In : Journal of Genetic Counseling. 15, 6, p. 449-460 12 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Genetic Counseling
Neoplasms
Primary Health Care
Communication
2005

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

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

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Deak, K. L., Boyles, A. L., Etchevers, H. C., Melvin, E. C., Siegel, D. G., Graham, F. L., Slifer, S. H., Enterline, D. S., George, T. M., Vekemans, M., McClay, D., Bassuk, A. G., Kessler, J. A., Linney, E., Gilbert, J. R., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J. & 14 others, Worley, G., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S., Mack, P., Meeropol, E., Lasarsky, N., McLone, D., Ito, J., Oakes, J., Walker, M. & Iskandar, B., Jul 2005, In : Human Genetics. 117, 2-3, p. 133-142 10 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecules
Neural Tube Defects
Single Nucleotide Polymorphism
Neural Tube
Genes

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

Rampersaud, E., Bassuk, A. G., Enterline, D. S., George, T. M., Siegel, D. G., Melvin, E. C., Aben, J., Allen, J., Aylsworth, A., Brei, T., Bodurtha, J. N., Buran, C., Floyd, L. E., Hammock, P., Iskandar, B., Ito, J., Kessler, J. A., Lasarsky, N., Mack, P., Mackey, J. & 14 others, McLone, D., Meeropol, E., Mehltretter, L., Mitchell, L. E., Oakes, W. J., Nye, J. S., Powell, C., Sawin, K., Stevenson, R., Walker, M., West, S. G., Worley, G., Gilbert, J. R. & Speer, M. C., Dec 2005, In : Journal of Medical Genetics. 42, 12, p. 940-946 7 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 7
Neural Tube Defects
Lod Score
Pedigree
2004

Gail model risk assessment and risk perceptions

Quillin, J. M., Fries, E., McClish, D., DeParedes, E. S. & Bodurtha, J. N., Apr 2004, In : Journal of Behavioral Medicine. 27, 2, p. 205-214 10 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Randomized Controlled Trials
Population

TERC is not a major gene in human neural tube defects

Benz, L. P., Swift, F. E., Graham, F. L., Enterline, D. S., Melvin, E. C., Hammock, P., Gilbert, J. R., Speer, M. C., Bassuk, A. G., Kessler, J. A., George, T. M., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K. & 10 others, Dias, M. S., Mack, P., Meeropol, E., Lasarsky, N., McLone, D., Ito, J., Oakes, W. J., Walker, M., Peterson, P. & Iskandar, B., Aug 2004, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 70, 8, p. 531-533 3 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Neural Tube
Genes
Telomere
Meningomyelocele
2003

Increased Risk of Birth Defects among Children from Multiple Births

Li, S. J., Ford, N., Meister, K. & Bodurtha, J. N., Oct 2003, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 67, 10, p. 879-885 7 p.

Research output: Contribution to journalArticle

Multiple Birth Offspring
Parturition
Live Birth
Odds Ratio
Microphthalmos

The link between providers and patients: How laboratories can ensure quality results with genetic testing

Quillin, J. M., Jackson-Cook, C. & Bodurtha, J. N., Nov 2003, In : Clinical Leadership and Management Review. 17, 6, p. 351-357 7 p.

Research output: Contribution to journalArticle

Genetic Testing
Health Personnel
Diagnostic Services
Technology
Disclosure

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

Rampersaud, E., Melvin, E. C., Siegel, D., Mehltretter, L., Dickerson, M. E., George, T. M., Enterline, D., Nye, J. S., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S., Iskandar, B., Ohm, B., Lasarsky, N. & 5 others, McLone, D., Ito, J., Oakes, W. J., Walker, M. & Peterson, P., Mar 1 2003, In : Clinical Genetics. 63, 3, p. 210-214 5 p.

Research output: Contribution to journalArticle

Methylenetetrahydrofolate Reductase (NADPH2)
Neural Tube Defects
Odds Ratio
Confidence Intervals
Folic Acid
2002

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

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

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

T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families

Speer, M. C., Melvin, E. C., Viles, K. D., Bauer, K. A., Rampersaud, E., Drake, C., George, T. M., Enterline, D. S., Mackey, J. F., Worley, G., Gilbert, J. R., Nye, J. S., Aben, J., Aylsworth, A., Powell, C., Brei, T., Buran, C., Bodurtha, J. N., Sawin, K., Dias, M. S. & 8 others, Iskandar, B., Ohm, B., Lasarsky, N., McLone, D., Ito, J., Oakes, W. J., Walker, M. & Peterson, P., Jul 1 2002, In : American Journal of Medical Genetics. 110, 3, p. 215-218 4 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Linkage Disequilibrium
Exons
Viverridae
Meningomyelocele
2001

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

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

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

Preventive gynecologic surgery for BRCA1/2 carriers - Information for decision-making [3]

Quillin, J. M., Boardman, C. H., Bodurtha, J. N. & Smith, T. J., 2001, In : Gynecologic Oncology. 83, 1, p. 168-170 3 p.

Research output: Contribution to journalArticle

Gynecologic Surgical Procedures
Decision Making

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Rosenberg, M. J., Killoran, C., Dziadzio, L., Chang, S., Stone, D. L., Meck, J., Aughton, D., Bird, L. M., Bodurtha, J. N., Cassidy, S. B., Graham J.M., J., Grix, A., Guttmacher, A. E., Hudgins, L., Kozma, C., Michaelis, R. C., Pauli, R., Peters, K. F., Rosenbaum, K. N., Tifft, C. J. & 3 others, Wargowski, D., Williams, M. S. & Biesecker, L. G., 2001, In : Human Genetics. 109, 3, p. 311-318 8 p.

Research output: Contribution to journalArticle

Uniparental Disomy
Genetic Markers
Chromosomes
Workload
Intellectual Disability
Waardenburg Syndrome
Musculoskeletal Abnormalities
Extremities
Mutation
Genetic Association Studies
2000

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

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