Search

Your search keyword '"Brzustowicz, Linda M."' showing total 226 results
Start Over Author "Brzustowicz, Linda M."
226 results on '"Brzustowicz, Linda M."'

3. Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments

Author

Alibutud, Rohan, primary, Hansali, Sammy, additional, Cao, Xiaolong, additional, Zhou, Anbo, additional, Mahaganapathy, Vaidhyanathan, additional, Azaro, Marco, additional, Gwin, Christine, additional, Wilson, Sherri, additional, Buyske, Steven, additional, Bartlett, Christopher W., additional, Flax, Judy F., additional, Brzustowicz, Linda M., additional, and Xing, Jinchuan, additional

Published
2023
Full Text
View/download PDF

6. Common genetic risk factors in ASD and ADHD co-occurring families

Author

Zhou, Anbo, primary, Cao, Xiaolong, additional, Mahaganapathy, Vaidhyanathan, additional, Azaro, Marco, additional, Gwin, Christine, additional, Wilson, Sherri, additional, Buyske, Steven, additional, Bartlett, Christopher W., additional, Flax, Judy F., additional, Brzustowicz, Linda M., additional, and Xing, Jinchuan, additional

Published
2022
Full Text
View/download PDF

8. MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

Author

Wong, Anthony, primary, Zhou, Anbo, additional, Cao, Xiaolong, additional, Mahaganapathy, Vaidhyanathan, additional, Azaro, Marco, additional, Gwin, Christine, additional, Wilson, Sherri, additional, Buyske, Steven, additional, Bartlett, Christopher W., additional, Flax, Judy F., additional, Brzustowicz, Linda M., additional, and Xing, Jinchuan, additional

Published
2022
Full Text
View/download PDF

10. The Search for Autism Disease Genes

Author

Wassink, Thomas H., Brzustowicz, Linda M., and Bartlett, Christopher W.

Abstract

Autism is a heritable disorder characterized by phenotypic and genetic complexity. This review begins by surveying current linkage, gene association, and cytogenetic studies performed with the goal of identifying autism disease susceptibility variants. Though numerous linkages and associations have been identified, they tend to diminish upon closer examination or attempted replication. The review therefore explores challenges to current methodologies presented by the complexities of autism that might underlie some of the current difficulties, and finishes by describing emerging phenotypic, statistical, and molecular investigational approaches that offer hope of overcoming those challenges. (Contains 1 table and 3 figures.)

Published
2004
Full Text
View/download PDF

23. Characterization hiPSC-derived neural progenitor cells and neurons to investigate the role of NOS1AP isoforms in human neuron dendritogenesis

Author

Crosta, Christen M., primary, Hernandez, Kristina, additional, Bhattiprolu, Atul K., additional, Fu, Allen Y., additional, Moore, Jennifer C., additional, Clarke, Stephen G., additional, Dudzinski, Natasha R., additional, Brzustowicz, Linda M., additional, Paradiso, Kenneth G., additional, and Firestein, Bonnie L., additional

Published
2020
Full Text
View/download PDF

25. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Author

Lionel, Anath C., Vaags, Andrea K., Sato, Daisuke, Gazzellone, Matthew J., Mitchell, Elyse B., Chen, Hong Yang, Costain, Gregory, Walker, Susan, Egger, Gerald, Thiruvahindrapuram, Bhooma, Merico, Daniele, Prasad, Aparna, Anagnostou, Evdokia, Fombonne, Eric, Zwaigenbaum, Lonnie, Roberts, Wendy, Szatmari, Peter, Fernandez, Bridget A., Georgieva, Lyudmila, Brzustowicz, Linda M., Roetzer, Katharina, Kaschnitz, Wolfgang, Vincent, John B., Windpassinger, Christian, Marshall, Christian R., Trifiletti, Rosario R., Kirmani, Salman, Kirov, George, Petek, Erwin, Hodge, Jennelle C., Bassett, Anne S., and Scherer, Stephen W.

Published
2013
Full Text
View/download PDF

26. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part II: schizophrenia

Author

Lewis, Cathryn M., Levinson, Douglas F., Wise, Lesley H., DeLisi, Lynn E., Straub, Richard E., Hovatta, Iiris, Williams, Nigel M., Schwab, Sibylle G., Pulver, Ann E., Faraone, Stephen V., Brzustowicz, Linda M., Kaufmann, Charles A., Garver, David L., Gurling, Hugh M.D., Lindholm, Eva, Coon, Hilary, Moises, Hans W., Byerley, William, Shaw, Sarah H., Mesen, Andrea, Sherrington, Robin, O'Neill, F. Anthony, Walsh, Dermot, Kendler, Kenneth S., Ekelund, Jesper, Paunio, Tiina, Lonnqvist, Jouko, Peltonen, Leena, O'Donovan, Michael C., Owen, Michael J., Wildenauer, Dieter B., Maier, Wolfgang, Nestadt, Gerald, Blouin, Jean-Louis, Antonarakis, Stylianos E., Mowry, Bryan J., Silverman, Jeremy M., Crowe, Raymond R., Cloninger, C. Robert, Tsuang, Ming T., Malaspina, Dolores, Harkavy-Friedman, Jill M., Svrakic, Dragan M., Bassett, Anne S., Holcomb, Jennifer, Kalsi, Gursharan, McQuillin, Andrew, Brynjolfson, Jon, Sigmundsson, Thordur, Petursson, Hannes, Jazin, Elena, Zoega, Tomas, and Helgason, Tomas

Subjects
Bipolar disorder -- Research, Bipolar disorder -- Genetic aspects, Schizophrenia -- Research, Schizophrenia -- Genetic aspects, Biological sciences
Published
2003

27. Specific language impairment in families: evidence for co-occurrence with reading impairments

Author

Flax, Judy F., Realpe-Bonilla, Teresa, Hirsch, Linda S., Brzustowicz, Linda M., Bartlett, Christopher W., and Tallal, Paula

Subjects
Reading disability -- Research, Speech disorders -- Research
Abstract

Two family aggregation studies report the occurrence and co-occurrence of oral language impairments (LIs) and reading impairments (RIs). Study 1 examined the occurrence (rate) of LI and RI in children with specific language impairment (SLI probands), a matched control group, and all nuclear family members. Study 2 included a larger sample of SLI probands, as well as their nuclear and extended family members. Probands and their family members who met specific criteria were classified as language and/or reading impaired based on current testing. In Study 1, the rates of U and RI for nuclear family members (excluding probands) were significantly higher than those far control family members. In the SLI families, affected family members were more likely to have both LI and RI than either impairment alone. In Study 2, 68% of the SLI probands also met the diagnostic classification far RI. The language and RI rates for the other family members, excluding probands, were 25% and 23% respectively, with a high degree of co-occurrence of LI and RI (46%) in affected individuals. Significant sex ratio differences were found across generations in the families of SLI probands. There were more male than female offspring in these families, and more males than females were found to have both LIs and RIs. Results demonstrate that when LIs occur within families of SLI probands, these impairments generally co-occur with RIs. Our data are also consistent with prior findings that males show impairments more often than females. KEY WORDS: specific language impairment, reading impairment, family aggregation, sex ratio, Familial Aggregation Studies of Language Impairments Familial aggregation of oral language impairment (LI) (1) has been examined using several methods (see Tallal et al., 2001, for a complete review). Case [...]

Published
2003

28. A major susceptibility locus for specific language impairment is located on 13q21

Author

Bartlett, Christopher W., Flax, Judy F., Logue, Mark W., Vieland, Veronica J., Bassett, Anne S., Tallal, Paula, and Brzustowicz, Linda M.

Subjects
Language disorders in children -- Genetic aspects, Linkage (Genetics) -- Analysis, Chromosome mapping -- Analysis, Genetic disorders -- Analysis, Biological sciences
Published
2002

29. Familial aggregation in specific language impairment

Author

Tallal, Paula, Hirsch, Linda S., Realpe-Bonilla, Teresa, Miller, Steve, Brzustowicz, Linda M., Bartlett, Christopher, and Flax, Judy F.

Subjects
Language transfer (Language learning) -- Analysis, Learning disabilities -- Analysis, Genetic disorders -- Research
Abstract

A case-control family study design, in which the current language-related abilities of all biological, primary relatives (mother, father, siblings) of probands with specific language impairment (SLI) and matched controls were assessed, was used to investigate familial aggregation for language disorders. Current test data from each family member showed the rate of language impairment for mothers, fathers, sisters, and brothers of the SLI probands to be significantly higher than for members of control families. Impairment rates for fathers and mothers were approximately equal, whereas rates for brothers were significantly higher than for sisters. In SLI proband families, Language Impairment (LI) occurred in 13.0% of offspring (excluding proband) with neither parent affected, 40% of offspring with one parent affected, and 71.4% of offspring in families in which both parents were language impaired. Rates of impairment as determined in current testing were compared directly to impairment rates estimated from family-history questionnaires collected from the same families. Group data showed impairment rates estimated from the family-history questionnaires to be similar to the rates based on actual testing. Furthermore, both appeared in line with rates based primarily on questionnaire data as reported previously in the literature. However, case-by-case analyses showed poor intrasubject agreement on classification as language impaired on the basis of current testing as compared to history information. KEY WORDS: family history, specific language impairment, familial aggregation, Over the past decade, evidence has been collected to support the hypothesis that specific language impairment (SLI) may aggregate in families and, therefore, may contain a genetic component (Bishop, North, [...]

Published
2001

30. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

Author

Bassett, Anne S., Scherer, Stephen W., and Brzustowicz, Linda M.

Subjects
Genetic variation -- Observations, Schizophrenia -- Diagnosis, Schizophrenia -- Genetic aspects, Health, Psychology and mental health
Abstract

Objective: Structural variations of DNA, such as copy number variations (CNVs), are recognized to contribute both to normal genomic variability and to risk for human diseases. For example, schizophrenia has an established connection with 22q11.2 deletions. Recent genome-wide studies have provided initial evidence that CNVs at other loci may also be associated with schizophrenia. In this article, the authors provide a brief overview of CNVs, review recent findings related to schizophrenia, outline implications for clinical practice and diagnostic subtyping, and make recommendations for future reports on CNVs to improve interpretation of results. Method: The review included genomewide surveys of CNVs in schizophrenia that included one or more comparison groups, were published before 2009, and used newer methods. Six studies were identified. Results: Despite some limitations, these initial genome-wide studies of CNVs provide replicated associations of schizophrenia with rare 1q21.1 and 15q13.3 deletions. Collectively, the results point to a more general mutational mechanism involving rare CNVs that elevate risk for schizophrenia, especially more developmental forms of the disease. Including 22q11.2 deletions, rare risk-associated CNVs appear to account for up to 2% of schizophrenia. Conclusions: The more penetrant CNVs have direct implications for clinical practice and diagnostic subtyping. CNVs with lower penetrance promise to contribute to our genetic understanding of pathogenesis. The findings provide insight into a broader neuropsychiatric spectrum for schizophrenia than previously conceived and indicate new directions for genetic studies. doi: 10.1176/appi.ajp.2009.09071016

Published
2010

Catalog

Books, media, physical & digital resources
See catalog results