Search Results - "SCHROER, Richard J"

Natural history of Christianson syndrome by Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.

“…Christianson syndrome is an X‐linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay,…”
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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders by Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, Dupont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E

“…Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS),…”
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures by Eichler, Evan E, Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E

“…We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected…”
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Autistic Disorder: A 20 Year Chronicle by Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E.

“…The course of 187 individuals ages 3–21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995–1998, follow up: 2014–2019)…”
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Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability by Bhalla, Kavita, Luo, Yue, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, Srivastava, Anand K.

“…Cell-adhesion molecules play critical roles in brain development, as well as maintaining synaptic structure, function, and plasticity. Here we have found the…”
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Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions by Monnens, Yenthe, Theodoropoulou, Anastasia, Rosier, Karen, Bhalla, Kritika, Mahy, Alexia, Vanhoutte, Roeland, Meulemans, Sandra, Cavani, Edoardo, Antanasijevic, Aleksandar, Lemmens, Irma, Lee, Jennifer A, Spellicy, Catherine J, Schroer, Richard J, Maselli, Ricardo A, Laverty, Chamindra G, Agostinis, Patrizia, Pagliarini, David J, Verhelst, Steven, Marcaida, Maria J, Rochtus, Anne, Dal Peraro, Matteo, Creemers, John Wm

“…Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a rare genetic disorder caused by deleterious genetic variation in the prolyl endopeptidase-like…”
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Expanded newborn screening identifies maternal primary carnitine deficiency by Schimmenti, Lisa A., Crombez, Eric A., Schwahn, Bernd C., Heese, Bryce A., Wood, Timothy C., Schroer, Richard J., Bentler, Kristi, Cederbaum, Stephen, Sarafoglou, Kiki, McCann, Mark, Rinaldo, Piero, Matern, Dietrich, di San Filippo, Cristina Amat, Pasquali, Marzia, Berry, Susan A., Longo, Nicola

“…Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed…”
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Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome by Schroer, Richard J., Beaudet, Arthur L., Shinawi, Marwan, Sahoo, Trilochan, Patel, Ankita, Sun, Qin, Skinner, Cindy, Stevenson, Roger E.

“…Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual…”
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Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency by Pollard, Laura M., Williams, Nolan R., Espinoza, Lesby, Wood, Tim C., Spector, Elaine B., Schroer, Richard J., Holden, Kenton R.

“…We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal…”
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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A by Jiang, Yong-hui, Sahoo, Trilochan, Michaelis, Ron C., Bercovich, Dani, Bressler, Jan, Kashork, Catherine D., Liu, Qian, Shaffer, Lisa G., Schroer, Richard J., Stockton, David W., Spielman, Richard S., Stevenson, Roger E., Beaudet, Arthur L.

“…The genetic contribution to autism is often attributed to the combined effects of many loci (ten or more). This conclusion is based in part on the much lower…”
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Epimerase-Deficiency Galactosemia Is Not a Binary Condition by Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.

“…Epimerase-deficiency galactosemia results from the impairment of UDP-galactose 4′-epimerase (GALE), the third enzyme in the Leloir pathway of galactose…”
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X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28 by Hahn, Kimberly A., Salomons, Gajja S., Tackels-Horne, Darci, Wood, Tim C., Taylor, Harold A., Schroer, Richard J., Lubs, Herbert A., Jakobs, Cornelis, Olson, Rick L., Holden, Kenton R., Stevenson, Roger E., Schwartz, Charles E.

“…A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male…”
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Clinical utility of the X-chromosome array by Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, M. Allison, Cathey, Sara S., Champaigne, Neena L., Clarkson, L. Kate, DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, R. Curtis, Saul, Robert A., Schroer, Richard J., Skinner, Steven A., Stevenson, Roger E.

“…Previous studies have limited the use of specific X‐chromosome array designed platforms to the evaluation of patients with intellectual disability. In this…”
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Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements by Sahoo, Trilochan, Shaw, Chad A., Young, Andrew S., Whitehouse, Nathan L., Schroer, Richard J., Stevenson, Roger E., Beaudet, Arthur L.

“…Genomic rearrangements of chromosome 15q11‐q13 cause diverse phenotypes including autism, Prader–Willi syndrome (PWS), and Angelman syndrome (AS). This region…”
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Autism and macrocephaly by Stevenson, R E, Schroer, R J, Skinner, C, Fender, D, Simensen, R J

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Genetic syndromes among individuals with mental retardation by Stevenson, Roger E., Procopio-Allen, Ashley M., Schroer, Richard J., Collins, Julianne S.

“…Individuals with mental retardation more commonly have malformations and other structural anomalies than individuals without mental retardation. In many cases,…”
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Absence of MeCP2 mutations in patients from the South Carolina autism project by Lobo-Menendez, Fe, Sossey-Alaoui, Khalid, Bell, Jennifer M., Copeland-Yates, Susan A., Plank, Sara M., Sanford, Stewart O., Skinner, Cindy, Simensen, Richard J., Schroer, Richard J., Michaelis, Ron C.

“…The methyl‐CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder…”
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The HOXA1 A218G polymorphism and autism: Lack of association in white and black patients from the South Carolina Autism Project by COLLINS, Julianne S, SCHROER, Richard J, BIRD, Jeffrey, MICHAELIS, Ron C

“…A recent study has suggested that the A218G polymorphism in the homeobox A1 (HOXA1) gene may influence susceptibility to autism. We have determined the…”
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The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism by Michaelis, Ron C, Copeland-Yates, Susan A, Sossey-Alaoui, Khalid, Skinner, Cindy, Friez, Michael J, Longshore, John W, Simensen, Richard J, Schroer, Richard J, Stevenson, Roger E

“…A study of 202 patients with autism found the incidence of a dodecamer duplication in the HOPA gene was not significantly different between patients and…”
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Autism and maternally derived aberrations of chromosome 15q by Schroer, Richard J., Phelan, Mary C., Michaelis, Ron C., Crawford, Eric C., Skinner, Steven A., Cuccaro, Michael, Simensen, Richard J., Bishop, Janet, Skinner, Cindy, Fender, Don, Stevenson, Roger E.

“…Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and…”
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