Search Results - "Fernandez, BA"

The Newfoundland population: a unique resource for genetic investigation of complex diseases by Rahman, Proton, Jones, Albert, Curtis, Joseph, Bartlett, Sylvia, Peddle, Lynette, Fernandez, Bridget A., Freimer, Nelson B.

“…The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic…”
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An analysis of prognostic factors associated with recurrence in the treatment of atypical meningiomas by Fernandez, Christian, BA, Nicholas, Martin K., MD, Engelhard, Herbert H., MD, PhD, Slavin, Konstantin V., MD, Koshy, Matthew, MD

“…Abstract Background There has been increased reporting of atypical meningioma (grade II) since the World Health Organization reclassification in 2000, and the…”
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Whole-genome sequencing of quartet families with autism spectrum disorder by Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W

“…Whole-genome sequencing of 85 families with two affected siblings reveals considerable genetic heterogeneity in autism spectrum disorder. Autism spectrum…”
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder by Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A

“…IMPORTANCE: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. OBJECTIVE: To…”
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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing by Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.

“…Background Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the…”
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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder by Chan, Ada J. S., Engchuan, Worrawat, Reuter, Miriam S., Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V., Sung, Wilson W. L., MacDonald, Jeffrey R., Howe, Jennifer L., Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H., Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J., Yuen, Ryan K. C., Fernandez, Bridget A., Scherer, Stephen W.

“…Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major…”
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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder by Carter, MT, Nikkel, SM, Fernandez, BA, Marshall, CR, Noor, A, Lionel, AC, Prasad, A, Pinto, D, Joseph-George, AM, Noakes, C, Fairbrother-Davies, C, Roberts, W, Vincent, J, Weksberg, R, Scherer, SW

“…Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph‐George AM, Noakes C, Fairbrother‐Davies C, Roberts W, Vincent J,…”
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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study by Moore, Susan J., Green, Jane S., Fan, Yanli, Bhogal, Ashvinder K., Dicks, Elizabeth, Fernandez, Bridget A., Stefanelli, Mark, Murphy, Christopher, Cramer, Benvon C., Dean, John C.S., Beales, Philip L., Katsanis, Nicholas, Bassett, Anne S., Davidson, William S., Parfrey, Patrick S.

“…Bardet–Biedl syndrome (BBS) and Laurence–Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are…”
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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes by Woodbury-Smith, Marc, Paterson, Andrew D., Thiruvahindrapduram, Bhooma, Lionel, Anath C., Marshall, Christian R., Merico, Daniele, Fernandez, Bridget A., Duku, Eric, Sutcliffe, James S., O’Conner, Irene, Chrysler, Christina, Thompson, Ann, Kellam, Barbara, Tammimies, Kristiina, Walker, Susan, Yuen, Ryan K. C., Uddin, Mohammed, Howe, Jennifer L., Parlier, Morgan, Whitten, Kathy, Szatmari, Peter, Vieland, Veronica J., Piven, Joseph, Scherer, Stephen W.

“…Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder…”
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Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature by Fernandez, BA, Siegel-Bartelt, J, Herbrick, J-AS, Teshima, I, Scherer, SW

“…Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is…”
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Male-to-female sex reversal associated with an similar to 250 kb deletion upstream of NR0B1 (DAX1) by Smyk, M, Berg, J S, Pursley, A, Curtis, F K, Fernandez, BA, Bien-Willner, G A, Lupski, J R, Cheung, S W, Stankiewicz, P

“…Deletion of the dosage sensitive gene NR0B1 encoding DAX1 on chromosome Xp21.2 results in congenital adrenal hypoplasia (AHC), whereas NR0B1 duplication in 46,…”
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Missed opportunities: a mixed methods analysis of CAM discussions and practices in the management of pain in oncology by Leppin, Aaron L., MD, Fernandez, Cara, BA, Tilburt, Jon C., MD, MPH

“…Context Treatment of pain in cancer is a clinical priority. Many cancer patients seek and use complementary and alternative medicine (CAM) therapies…”
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A short review of malabsorption and anemia by Fernández-Bañares, Fernando, Monzón, Helena, Forné, Montserrat

“…Anemia is a frequent finding in most diseases which cause malabsorption. The most frequent etiology is the combination of iron and vitamin B12 deficiency…”
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Original Article: Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature by Fernandez, BA, Siegel-Bartelt, J, J-AS Herbrick, Teshima, I, Scherer, S W

“…Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is…”
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Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome by Nakabayashi, Kazuhiko, Fernandez, Bridget A., Teshima, Ikuko, Shuman, Cheryl, Proud, Virginia K., Curry, Cynthia J., Chitayat, David, Grebe, Theresa, Ming, Jeffrey, Oshimura, Mitsuo, Meguro, Makiko, Mitsuya, Kohzoh, Deb-Rinker, Paromita, Herbrick, Jo-Anne, Weksberg, Rosanna, Scherer, Stephen W.

“…Russell–Silver syndrome (RSS) is a form of congenital short stature characterized by severe growth retardation and variable dysmorphic features. In some RSS…”
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The Newfoundland population: a unique resource for genetic investigation of complex diseases by Rahman, Proton, Jones, Albert, Curtis, Joseph, Bartlett, Sylvia, Peddle, Lynette, Fernandez, Bridget A., Freimer, Nelson B.

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Comprehension on Family-Centered Rounds for Limited English Proficient Families by Lion, K. Casey, MD, MPH, Mangione-Smith, Rita, MD, MPH, Martyn, Molly, MD, Hencz, Patty, RN, Fernandez, Juan, BA, Tamura, Glen, MD, PhD

“…Abstract Objective To describe communication with limited English proficient (LEP) families during family-centered rounds (FCR); to examine differences in…”
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Survey of the Professors of Child Neurology: Neurology Versus Pediatrics Home for Child Neurology by Pearl, Phillip L., MD, McConnell, Emily R., MA, Fernandez, Rosamary, BA, Brooks-Kayal, Amy, MD

“…Abstract Background The optimal academic home for child neurology programs between adult neurology versus pediatric departments remains an open question. The…”
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Impact of mass screening for gluten-sensitive enteropathy in working population by Mariné, Meritxell, Fernández-Bañares, Fernando, Alsina, Montserrat, Farré, Carme, Cortijo, Montserrat, Santaolalla, Rebeca, Salas, Antonio, Tomàs, Margarita, Abugattas, Elias, Loras, Carme, Ordás, Ingrid, Viver, Josep-M, Esteve, Maria

“…AIM： TO assess： （1） frequency and clinical relevance of gluten sensitive enteropathy （GSE） detected by serology in a mass screening program; （2） sensitivity of…”
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Fibroepithelial polyps: Preoperative diagnosis may avoid thoracotomy by Wartmann, Christopher T., MD, Fernandez, Denise, BA, Flores, Raja M., MD

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