Genotype phenotype analysis of the branchio oculo facial syndrome

Authors: Milunsky, J. M., Maher, T. M., Zhao, G., Wang, Z., Mulliken, J. B., Chitayat, D., Clemens, M., Stalker, H. J., Bauer, M., Burch, M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 155(1):22-32

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Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

Authors: Dennis, T. R., Raptoulis, G. N., Stalker, H. J., Boles, D., Meck, J. M., Krasnewich, D. M., Schiffmann, R., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 149 NUMB 2:262-265

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A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development

Authors: Dagli, A. I., Stalker, H. J., Williams, C. A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 146(2):204-207

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High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome

Authors: Stalker, H. J., Gray, B. A., Bent-Williams, A., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 140(18):1950-1954

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Telegenetic medicine: improved access to services in an underserved area

Authors: Stalker, H. J., Wilson, R., McCune, H., Gonzalez, J., Moffett, M., Zori, R. T.

Source: JOURNAL OF TELEMEDICINE AND TELECARE. 12(4):182-185

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Fine Mapping of Chromosome 17 Translocation Breakpoints >or=900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

Authors: Hill-Harfe, K. L., Kaplan, L., Stalker, H. J., Zori, R. T., Pop, R., Scherer, G., Wallace, M. R.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 76(4):663-671

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A family with a grand-maternally derived interstitial duplication of proximal 15q

Authors: Boyar, F. Z., Whitney, M. M., Lossie, A. C., Gray, B. A., Keller, K. L., Stalker, H. J., Zori, R. T., Geffken, G., Mutch, J., Edge, P. J.

Source: CLINICAL GENETICS. 60(6):421-430

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Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy

Authors: Zhang, J., Kumar, A., Stalker, H. J., Virdi, G., Ferrans, V. J., Horiba, K., Fricker, F. J., Wallace, M. R.

Source: CLINICAL GENETICS. 59(4):248-256

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Genetic Counseling in Angelman Syndrome: The Challenges of Multiple Causes

Authors: Stalker, H. J., Williams, C. A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 77(1):54-59

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Prevalence of 22q11 Region Deletions in Patients With Velopharyngeal Insufficiency

Authors: Zori, R. T., Boyar, F. Z., Williams, W. N., Gray, B. A., Bent-Williams, A., Stalker, H. J., Rimer, L. A., Nackashi, J. A., Driscoll, D. J., Rasmussen, S. A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 77(1):8-11

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Variable Expression of Rib, Pectus, and Scapular Anomalies With Robin-Type Cleft Palate in a 5-Generation Family: A New Syndrome?

Authors: Stalker, H. J., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 73(3):247-250

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NF1 Mutation Analysis Using a Combined Heteroduplex/SSCP Approach

Authors: Abernathy, C. R., Rasmussen, S. A., Stalker, H. J., Zori, R., Driscoll, D. J., Williams, C. A., Kousseff, B. G., Wallace, M. R.

Source: HUMAN MUTATION. 9(6):548-554

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Juvenile Rheumatoid Arthritis in Velo-Cardio-Facial Syndrome: Coincidence or Unusual Complication?

Authors: Rasmussen, S. A., Williams, C. A., Ayoub, E. M., Sleasman, J. W., Gray, B. A., Bent-Williams, A., Stalker, H. J., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 64(4):546-550

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Concurrence of Fragile X Syndrome and 47, XYY in an Individual With a Prader-Willi-Like Phenotype

Authors: Stalker, H. J., Keller, K. L., Gray, B. A., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 116(2):176-178

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Letter to the Editor: Dominant Transmission of a Previously Unidentified 13/17 Translocation in a Five-Generation Family With Robin Cleft and Other Skeletal Defects

Authors: Stalker, H. J., Gray, B. A., Zori, R. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 103(4):339-341

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Authors: Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 84(2):301-301

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Concurrence of Supravalvular Aortic Stenosis and Peripheral Pulmonary Stenosis in Three Generations of a Family: A Form of Arterial Dysplasia

Authors: Kumar, A., Stalker, H. J., Williams, C. A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 45(6):739-739

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Brief Clinical Report: Duplication of 9q12-q33: A Case Report and Implications for the dup(9q) Syndrome

Authors: Stalker, H. J., Ayme, S., Delneste, D., Scarpelli, H.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 45(4):456-456

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Phocomelia, Oligodactyly, and Acrania: The Schinzel-Phocomelia Syndrome

Authors: Chitayat, D., Stalker, H. J., Vekemans, M., Delneste, D.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 45(3):297-297

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Hyperphalangism, Facial Anomalies, Hallux Valgus, and Bronchomalacia: A New Syndrome?

Authors: Chitayat, D., Haj-Chahine, S., Stalker, H. J., Azouz, E. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 45(1):1-1

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