Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2 von Tegay, DH, Chan, KK, Leung, L, Wang, C, Burkett, S, Stone, G, Stanyon, R, Toriello, HV, Hatchwell, E

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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing von Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

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Statement on guidance for genetic counseling in advanced paternal age von Toriello, Helga V., Meck, Jeanne M.

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Policy statement on folic acid and neural tube defects von Toriello, Helga V.

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A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito von Toriello, Helga V, Glover, Thomas W, Takahara, Kazuhiko, Byers, Peter H, Miller, Diane E, Higgins, James V, Greenspan, Daniel S

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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 von Rehder, Catherine W., David, Karen L., Hirsch, Betsy, Toriello, Helga V., Wilson, Carolyn M., Kearney, Hutton M.

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Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 von Hedera, P, Toriello, H V, Petty, E M

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Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B von 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

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Chondrodysplasia punctata and maternal systemic lupus erythematosus von Toriello, H V

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor von Ramser, Juliane, Abidi, Fatima E., Burckle, Celine A., Lenski, Claus, Toriello, Helga, Wen, Gaiping, Lubs, Herbert A., Engert, Stefanie, Stevenson, Roger E., Meindl, Alfons, Schwartz, Charles E., Nguyen, Genevieve

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Oral-facial-digital syndromes, 1992 von Toriello, H V

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Toriello-Carey syndrome: Delineation and review von 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

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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 von PEGORARO, E, SCHIMKE, R. N, MARKS, H, APPLETON, S, TORIELLO, H, WESSEL, H. B, DONNELLY, J, BERNES, S. M, TABER, J. W, WEISS, L, HOFFMAN, E. P, GARCIA, C, STERN, H, CADALDINI, M, ANGELINI, C, BARBOSA, E, CARROLL, J, MARKS, W. A, NEVILLE, H. E

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302 TORIELLO-CAREY SYNDROME AND CONGENITAL CONTRACTURES: A NEW ASSOCIATION von Lyons, M. J., Toriello, H. V., Hoyme, H. E.

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Indications for genetic referral: a guide for healthcare providers von Pletcher, Beth A, Toriello, Helga V, Noblin, Sarah J, Seaver, Laurie H, Driscoll, Deborah A, Bennett, Robin L, Gross, Susan J

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Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities von Moore, Cynthia A., Toriello, Helga V., Abuelo, Dianne N., Bull, Marilyn J., Curry, Cynthia J. R., Hall, Bryan D., Higgins, James V., Stevens, Cathy A., Twersky, Sivya, Weksberg, Rosanna, Dobyns, William B.

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Wiedemann-Rautenstrauch syndrome von Toriello, H V

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Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females von 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

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Charge association von Toriello, Helga V.

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Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro- alpha 1(V) N-Propeptides an... von Takahara, K, Schwarze, U, Imamura, Y, Hoffman, G G, Toriello, H, Smith, L T, Byers, PH, Greenspan, D S

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