Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
Tegay, DH, Chan, KK, Leung, L, Wang, C, Burkett, S, Stone, G, Stanyon, R, Toriello, HV, Hatchwell, E
Published in Clinical genetics (01.03.2009)
Published in Clinical genetics (01.03.2009)
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A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito
Toriello, Helga V, Glover, Thomas W, Takahara, Kazuhiko, Byers, Peter H, Miller, Diane E, Higgins, James V, Greenspan, Daniel S
Published in Nature genetics (01.07.1996)
Published in Nature genetics (01.07.1996)
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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.
Published in Genetics in medicine (01.02.2013)
Published in Genetics in medicine (01.02.2013)
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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei
Pegoraro, E, Schimke, R N, Garcia, C, Stern, H, Cadaldini, M, Angelini, C, Barbosa, E, Carroll, J, Marks, W A, Neville, H E, Marks, H, Appleton, S, Toriello, H, Wessel, H B, Donnelly, J, Bernes, S M, Taber, J W, Weiss, L, Hoffman, E P
Published in Neurology (01.04.1995)
Published in Neurology (01.04.1995)
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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities
Moore, C A, Toriello, H V, Abuelo, D N, Bull, M J, Curry, C J, Hall, B D, Higgins, J V, Stevens, C A, Twersky, S, Weksberg, R, Dobyns, W B
Published in American journal of medical genetics (02.05.1997)
Published in American journal of medical genetics (02.05.1997)
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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Rehder, Catherine W., David, Karen L., Hirsch, Betsy, Toriello, Helga V., Wilson, Carolyn M., Kearney, Hutton M.
Published in Genetics in medicine (01.02.2013)
Published in Genetics in medicine (01.02.2013)
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Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B
Rappaport, Eric, Morris, Colleen A, Bamshad, Michael J, Calof, Anne L, Li, Hui-hua, Bottani, Armand, Gillis, Lynette A, Krantz, Ian D, Wasserman, Nora, DeScipio, Cheryl, Nowaczyk, Malgorzata J M, Lander, Arthur D, McCallum, Jennifer, Jukofsky, Lori, Devoto, Marcella, Kaur, Maninder, Kawauchi, Shimako, Yaeger, Dinah, Jackson, Laird G, Carey, John C, Toriello, Helga
Published in Nature genetics (01.06.2004)
Published in Nature genetics (01.06.2004)
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Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type
Argo, K M, Toriello, H V, Jelsema, R D, Zuidema, L J
Published in Ultrasound in obstetrics & gynecology (01.11.1996)
Published in Ultrasound in obstetrics & gynecology (01.11.1996)
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Toriello-Carey syndrome: Delineation and review
Toriello, Helga V., Carey, John C., Addor, Marie-Claude, Allen, William, Burke, Leah, Chun, Nicole, Dobyns, William, Elias, Ellen, Gallagher, Renata, Hordijk, Roel, Hoyme, Gene, Irons, Mira, Jewett, Tamison, LeMerrer, Martine, Lubinsky, Mark, Martin, Rick, McDonald-McGinn, Donna, Neumann, Luitgard, Newman, William, Pauli, Richard, Seaver, Laurie, Tsai, Anna, Wargowsky, David, Williams, Marc, Zackai, Elaine
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
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Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
PEGORARO, E, SCHIMKE, R. N, BAUSERMAN, S. C, MARKS, W. A, TORIELLO, H. V, HIGGINS, J. V, APPLETON, S, SCHWARTZ, L, GARCIA, C. A, HOFFMAN, E. P, ARAHATA, K, HAYASHI, Y, STERN, H, MARKS, H, GLASBERG, M. R, CARROLL, J. E, TABER, J. W, WESSEL, H. B
Published in American journal of human genetics (01.06.1994)
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Published in American journal of human genetics (01.06.1994)
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