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Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

Winn S. Surka, Juergen Kohlhase, Cindy E. Neunert, Daniel S. Schneider, Virginia K. Proud

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 513 KB

english, 2001

Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome

Laura P. Smith, John Podraza, Virginia K. Proud

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 416 KB

english, 2009

Family study of the inheritance of pectus excavatum

Heather A. Creswick, Michael W. Stacey, Robert E. Kelly Jr, Tina Gustin, Donald Nuss, Helen Harvey, Michael J. Goretsky, Ellen Vasser, J. Camille Welch, Karen Mitchell, Virginia K. Proud

Journal:

Journal of Pediatric Surgery

Année:

2006

Langue:

english

Fichier:

PDF, 423 KB

english, 2006

Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

Proud, Virginia K., Mussell, Holly G., Kaler, Stephen G., Young, Daniel W., Percy, Alan K.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 852 KB

english, 1996

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

Chu, Da-Chang, Finley, Sara C., Young, Daniel W., Proud, Virginia K.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 205 KB

english, 1997

Weaver syndrome: Autosomal dominant inheritance of the disorder

Proud, Virginia K., Braddock, Stephen R., Cook, Lola, Weaver, David D.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 263 KB

english, 1998

Further delineation of cardiac abnormalities in Costello syndrome

Angela E. Lin, Paul D. Grossfeld, Robert M. Hamilton, Leslie Smoot, Karen W. Gripp, Virginia Proud, Rosanna Weksberg, Patricia Wheeler, Jonathan Picker, Mira Irons, Elaine Zackai, Bradley Marino, Char

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 133 KB

english, 2002

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation

Lori L. Bassett, Ron C. Michaelis, Mary Holland Geiger, Jack Tarleton, C. Lynn Moore, Judith F. Knops, Andrew J. Carroll, Virginia K. Proud

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 33 KB

english, 2001

Updating McKusick: An educational exercise for medical students

MD Joann N. Bodurtha, J. Ives Townsend, Virginia K. Proud, Walter E. Nance, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 577 KB

english, 1986

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

Virginia K. Proud, Clive Levine, Nancy J. Carpenter

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 812 KB

english, 1992

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

Robert A. Saul, Virginia Proud, Harold A. Taylor, Jules G. Leroy, Jurgen Spranger

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 189 KB

english, 2005

Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

Robert A. Saul, Harold A. Taylor, Jules Leroy, Jurgen Spranger, Virginia Proud

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 50 KB

english, 2006

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Reha M. Toydemir, Harold Chen, Virginia K. Proud, Rick Martin, Hans van Bokhoven, Ben C. J. Hamel, Joep H. Tuerlings, Constantine A. Stratakis, Lynn B. Jorde, Michael J. Bamshad

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 302 KB

english, 2006

Hardikar syndrome: New features

J. Rainer Poley, Virginia K. Proud

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 279 KB

english, 2008

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007

Katherine A. Rauen, Erin Hefner, Kristin Carrillo, Jill Taylor, Laure Messier, Yoko Aoki, Karen W. Gripp, Yoichi Matsubara, Virginia K. Proud, Peter Hammond, Judith E. Allanson, Marie-Ange Delrue, Mar

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 130 KB

english, 2008

Additional EFNB1 mutations in craniofrontonasal syndrome

Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos E. Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka I. Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey,

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 110 KB

english, 2008

Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

William B. Rizzo, Mary W. Phillips, Andrea L. Dammann, Robert T. Leshner, Sandra S. Jennings, Joel Avigan, Virginia K. Proud

Journal:

Annals of Neurology

Année:

1987

Langue:

english

Fichier:

PDF, 758 KB

english, 1987

Biochemical changes in temperature-activated statoblasts of an ectoproct bryozoan

Robert E. Black, Virginia K. Proud

Journal:

Journal of Experimental Zoology Part A Ecological Genetics and Physiology

Année:

1976

Langue:

english

Fichier:

PDF, 248 KB

english, 1976

Medical students using Grateful Med: Analysis of failed searches and a six-month follow-up study

Joyce A. Mitchell, E.Diane Johnson, John E. Hewett, Virginia K. Proud

Journal:

Computers and Biomedical Research

Année:

1992

Langue:

english

Fichier:

PDF, 855 KB

english, 1992

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Kaler, Stephen G., Gallo, Linda K., Proud, Virginia K., Percy, Alan K., Mark, Yvonne, Segal, Neil A., Goldstein, David S., Holmes, Courtney S., Gahl, William A.

Journal:

Nature Genetics

Année:

1994

Fichier:

PDF, 946 KB

1994

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

Stephen F. Miller, Virginia K. Proud, Alice L. Werner, Fiona M. Field, William F. Wilcox, Ralph S. Lachman, David L. Rimoin

Journal:

Pediatric Radiology

Année:

2003

Langue:

english

Fichier:

PDF, 272 KB

english, 2003

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 487 KB

english, 2010

Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

Kazuhiko Nakabayashi, Bridget A. Fernandez, Ikuko Teshima, Cheryl Shuman, Virginia K. Proud, Cynthia J. Curry, David Chitayat, Theresa Grebe, Jeffrey Ming, Mitsuo Oshimura, Makiko Meguro, Kohzoh Mitsu

Journal:

Genomics

Année:

2002

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2002

Purification and phosphorylation of initiation factor eIF-2 from rabbit skeletal muscle

Christopher G. Proud, Virginia M. Pain

Journal:

FEBS Letters

Année:

1982

Langue:

english

Fichier:

PDF, 499 KB

english, 1982

Regulation of binding of initiator tRNA to eukaryotic initiation factor eIF-2: Effects of the haem-controlled repressor on the kinetics of ternary complex formation

Christopher G. Proud, Michael J. Clemens, Virginia M. Pain

Journal:

FEBS Letters

Année:

1982

Langue:

english

Fichier:

PDF, 738 KB

english, 1982

Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses

Stephen M. Wold, Craig S. Derkay, David H. Darrow, Virginia Proud

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2010

Langue:

english

Fichier:

PDF, 352 KB

english, 2010

Classification of the dysmorphology of pectus excavatum

Mark J. Cartoski, Donald Nuss, Michael J. Goretsky, Virginia K. Proud, Daniel P. Croitoru, Tina Gustin, Karen Mitchell, Ellen Vasser, Robert E. Kelly Jr.

Journal:

Journal of Pediatric Surgery

Année:

2006

Langue:

english

Fichier:

PDF, 8.30 MB

english, 2006

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly

Emily F. Kauvar, Ping Hu, Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Amalia Dutra, Evgenia Pak, Brooke Blessing, Virginia Proud, Alan L. Shanske, Cathy A. Stevens, Jill A. Rosenfeld, Lisa G. Shaff

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2011

Bifid epiglottis and polydactyly: A new genetic syndrome

JOHN E. McCLAY, BRIAN WIATRAK, VIRGINIA K. PROUD

Journal:

Otolaryngology - Head and Neck Surgery

Année:

1997

Langue:

english

Fichier:

PDF, 2.89 MB

english, 1997

Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

David Monk, Emma L Wakeling, Virginia Proud, Megan Hitchins, Sayeda N. Abu-Amero, Philip Stanier, Michael A. Preece, Gudrun E Moore

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2000

Clinical Comparison of Overlapping Deletions of 19p13.3

Risheg, Hiba, Pasion, Romela, Sacharow, Stephanie, Proud, Virginia, Immken, LaDonna, Schwartz, Stuart, Tepperberg, Jim H., Papenhausen, Peter, Tan, Tiong Y., Andrieux, Joris, Plessis, Ghislaine, Amor,

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 314 KB

english, 2013

Hemoglobin Columbia Missouri or α2[88 (F9) Ala→Val]β2: A New High-Oxygen-Affinity Hemoglobin That Causes Erythrocytosis

PERRY, MICHAEL C., HEAD, CHARLOTTE, FAIRBANKS, VIRGIL F., JONES, RICHARD T., TAYLOR, HENRY, PROUD, VIRGINIA

Journal:

Mayo Clinic Proceedings

Année:

1991

Langue:

english

Fichier:

PDF, 713 KB

english, 1991

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

Weaver, David D., Norby, Audrey R., Rosenfeld, Jill A., Proud, Virginia K., Spangler, Brooke E., Ming, Jeffrey E., Chisholm, Elizabeth, Zackai, Elaine H., Lee, Beom Hee, Edelmann, Lisa, Desnick, Rober

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2015

Developmental-Behavioral Pediatrics || GENETIC SYNDROMES AND DYSMORPHOLOGY

Proud, Virginia Kent

Année:

2009

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2009

Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program

Wolf, Barry, Heard, Gregory S., Jefferson, Linda G., Proud, Virginia K., Nance, Walter E., Weissbecker, Karen A.

Journal:

Boston Medical and Surgical Journal

Année:

1985

Langue:

english

Fichier:

PDF, 806 KB

english, 1985

Avoiding Transmitting Identified Mutations to Offspring Using Preimplantation Genetic Diagnosis

Smith, Laura P., Hughes, Mark R., Thirumoorthi, Ilango, Proud, Virginia K., Penzias, Alan S.

Journal:

Obstetrics & Gynecology

Année:

2010

Langue:

english

Fichier:

PDF, 104 KB

english, 2010

Enzyme Replacement Therapy in the Home Setting for Mucopolysaccharidosis VI

Tifft, Cynthia, Proud, Virginia, Levy, Paul, DeMarco, Kristin, Nicely, Helen, Turbeville, Sean

Journal:

Journal of Infusion Nursing

Année:

2009

Langue:

english

Fichier:

PDF, 2.29 MB

english, 2009

Differences in ribosome-bound and ribosome-free initiation-factor eIF-2 activities from haemin-deficient and haemin-supplemented reticulocyte lysates

PROUD, CHRISTOPHER G., PAIN, VIRGINIA M.

Journal:

Biochemical Society Transactions

Année:

1982

Langue:

english

Fichier:

PDF, 119 KB

english, 1982

763 THE CURRICULARIZATION OF McKUSICK: AN INNOVATION IN MEDICAL EDUCATION

Bodurtha, Joann N, Townsend, J Ives, Proud, Virginia K, Nance, Walter E, Wolf, B

Journal:

Pediatric Research

Année:

1985

Langue:

english

Fichier:

PDF, 162 KB

english, 1985