Search Results - "Toriello, Helga V"

Update on the Toriello-Carey syndrome by Toriello, Helga V., Colley, Chelsey, Bamshad, Michael

“…Toriello and Carey described a provisionally‐unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial…”
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Approach to the Genetic Evaluation of the Child with Autism by Toriello, Helga V., PhD

“…Autism is a heterogeneous entity that clearly has a substantial genetic component to its cause. There is likely enough evidence to suggest that there are…”
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Are the oral-facial-digital syndromes ciliopathies? by Toriello, Helga V.

“…The first oral‐facial‐digital syndrome was described in 1941 by Mohr, followed by a report by Papillon‐Léage and Psaume [Papillon‐Léage and Psaume (1954); Rev…”
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A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual by Maj, Mary, Taylor, Christie L., Landau, Kevin, Toriello, Helga V., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Nelson, Beverly, Gluschitz, Sarah, Walker, Ruth H., Sobering, Andrew K.

“…Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle…”
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Literature review: Genetic conditions or anomalies in artworks by Toriello, Helga V.

“…This is a literature review of publications describing artworks that include depictions of individuals with suspected genetic conditions or congenital…”
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Role of the Dysmorphologic Evaluation in the Child with Developmental Delay by Toriello, Helga V., PhD

“…This article focuses on the dysmorphologic evaluation of the child who has developmental delay or cognitive impairment. Attention is focused on minor…”
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Focused Revision: Policy statement on folic acid and neural tube defects by Prasad, Priya, Mori, Mari, Toriello, Helga V.

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Correction to: Focused Revision: Policy statement on folic acid and neural tube defects by Prasad, Priya, Mori, Mari, Toriello, Helga V.

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Gene Doping: The Hype and the Harm by McKanna, Trudy A., MS, Toriello, Helga V., PhD

“…“Gene doping” is the term used to describe the potential abuse of gene therapy as a performance-enhancing agent. Gene doping would apply the techniques used in…”
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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing by Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

“…MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that…”
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes by Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems by Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.

“…Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including…”
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Thrombocytopenia-absent radius syndrome by Toriello, Helga V

“…Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition characterized by absent radii with the presence of thumbs and congenital or…”
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The Genetics of Luck by Toriello, Helga V.

“…In general, I've been lucky-very lucky. Since the age of 11, I have always been interested in genetics. My mother had recently learned how to perform…”
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Training the next generation of genomic medicine providers: trends in medical education and national assessment by Dasgupta, Shoumita, Feldman, Gerald L., Powell, Cynthia M., Toriello, Helga V., Westman, Judith, Wilson, William G., Waggoner, Darrel J.

“…To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®). A team of clinical genetics educators performed an analysis…”
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Statement on guidance for genetic counseling in advanced paternal age by Toriello, Helga V., Meck, Jeanne M.

“…In 1996, a practice guideline on genetic counseling for advanced paternal age was published. The current document updates the state of knowledge of advanced…”
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Policy statement on folic acid and neural tube defects by Toriello, Helga V.

“…It now recognized that the use of folate fortification and/or supplementation before initiation of pregnancy can impact the risk of the fetus developing a…”
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Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing by Bashford, Michael T., Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

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Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A by Jay, Allison M., Conway, Robert L., Thiffault, Isabelle, Saunders, Carol, Farrow, Emily, Adams, John, Toriello, Helga V.

“…Wiedemann–Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare condition with fewer than 40 patients reported in the literature…”
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Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing by Bashford, Michael T., Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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