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1,480 results on '"Monaco, Anthony P."'

51. A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12

Author

Asher, Julian E., Lamb, Janine A., Brocklebank, Denise, Cazier, Jean-Baptiste, Monaco, Anthony P., Maestrini, Elena, Addis, Laura, Sen, Mallika, and Baron-Cohen, Simon

Subjects
Microsatellites (Genetics) -- Usage, Neuroimaging -- Usage, Synesthesia -- Genetic aspects, X chromosome -- Research, Perception -- Analysis, Chromosome mapping -- Usage, Biological sciences
Abstract

The article discusses the results obtained from a whole-genome study and fine-mapping linkage study that is conducted to analyze the auditory-visual synesthesia, a neurological condition characterized by anomalous sensory perception. The results prove that the disorder is highly linked to various chromosomes, including 2q24, 5q33, 6p12, and 12p12.

Published
2009

52. The Importance of Bringing Transplantation Tolerance to the Clinic

Author

Cosimi, A. Benedict, primary, Ascher, Nancy L., additional, Emond, Jean C., additional, Kaufman, Dixon B., additional, Madsen, Joren C., additional, Miller, Joshua, additional, Monaco, Anthony P., additional, Montgomery, Robert A., additional, Newell, Kenneth A., additional, Sánchez-Fueyo, Alberto, additional, Sarwal, Minnie M., additional, Scandling, John D., additional, Strober, Samuel, additional, Todo, Satoru, additional, Weir, Matthew R., additional, and Sachs, David H., additional

Published
2021
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54. Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking

Author

Holloway, Zoe G., Grabski, Robert, Szul, Tomasz, Styers, Melanie L., Coventry, Julie A., Monaco, Anthony P., and Sztul, Elizabeth

Subjects
Adenosine diphosphate -- Health aspects, Adenosine diphosphate -- Research, Copper in the body -- Health aspects, Copper in the body -- Research, Golgi apparatus -- Health aspects, Golgi apparatus -- Research, Biological sciences
Abstract

ATP7A (MNK) regulates copper homeostasis by translocating from a compartment localized within the trans-Golgi network to the plasma membrane (PM) in response to increased copper load. The mechanisms that regulate the biogenesis of the MNK compartment and the trafficking of MNK are unclear. Here we show that the architecture of the MNK compartment is linked to the structure of the Golgi ribbon. Depletion of p115 tethering factor, which causes fragmentation of the Golgi ribbon, also disrupts the MNK compartment. In p115-depleted cells, MNK localizes to punctate structures that pattern on Golgi ministacks dispersed throughout the cell. Despite altered localization MNK trafficking still occurs, and MNK relocates from and returns to the fragmented compartment in response to copper. We further show that the biogenesis of the MNK compartment requires activation of ADP-ribosylation factor (Arf)1 GTPase, shown previously to facilitate the biogenesis of the Golgi ribbon. Activation of cellular Arf1 is prevented by 1) expressing an inactive 'empty' form of Arf (Arf1/N126I), 2) expressing an inactive form of GBF1 (GBF1/E794K), guanine nucleotide exchange factor for Arf1, or 3) treating cells with brefeldin A, an inhibitor of GBF1 that disrupts MNK into a diffuse pattern. Importantly, preventing Arf activation inhibits copper-responsive trafficking of MNK to the PM. Our findings support a model in which active Arf is essential for the generation of the MNK compartment and for copper-responsive trafficking of MNK from there to the PM. Our findings provide an exciting foundation for identifying Arf1 effectors that facilitate the biogenesis of the MNK compartment and MNK traffic. copper homeostasis; Menkes disease; regulated exocytosis; P-type adenosinetriphosphatase

Published
2007

55. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Author

Gialluisi, Alessandro, Andlauer, Till F.M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, Pourcain, Beate St, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Chaix, Yves, Iannuzzi, Stephanie, Demonet, Jean Francois, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H.T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Kirsten, Holger, Müller, Bent, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, Schulte-Körne, Gerd, Gialluisi, Alessandro, Andlauer, Till F.M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, Pourcain, Beate St, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Chaix, Yves, Iannuzzi, Stephanie, Demonet, Jean Francois, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H.T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Kirsten, Holger, Müller, Bent, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, and Schulte-Körne, Gerd

Abstract

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimagin

Published
2020

58. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

Author

MacDermot, Kay D., Bonora, Elena, Sykes, Nuala, Coupe, Anne-Marie, Lai, Cecilia S.L., Vernes, Sonja C., Vargha-Khadem, Faraneh, McKenzie, Fiona, Smith, Robert L., Monaco, Anthony P., and Fisher, Simon E.

Subjects
Language disorders -- Causes of, Language disorders -- Genetic aspects, Language disorders -- Research, Speech disorders -- Genetic aspects, Speech disorders -- Research, Speech disorders -- Causes of, Biological sciences
Published
2005

63. A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11

Author

Ogdie, Matthew N., Macphie, I. Laurence, Minassian, Sonia L., Yang, May, Fisher, Simon E., Francks, Clyde, Cantor, Rita M., McCracken, James T., McGough, James J., Nelson, Stanley F., Monaco, Anthony P., and Smalley, Susan L.

Subjects
Attention-deficit hyperactivity disorder -- Genetic aspects, Genetic polymorphisms -- Research, Chromosome mapping -- Research, Biological sciences
Published
2003

64. Use of multivariate linkage analysis for dissection of a complex cognitive trait

Author

Marlow, Angela J., Fisher, Simon E., Francks, Clyde, MacPhie, I. Laurence, Cherny, Stacey S., Richardson, Alex J., Talcott, Joel B., Stein, John F., Monaco, Anthony P., and Cardon, Lon R.

Subjects
Linkage (Genetics) -- Physiological aspects, Mental illness -- Genetic aspects, Biological sciences
Published
2003

69. Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. (Report)

Author

Smalley, Susan L., Kustanovich, Vlad, Minassian, Sonia L., Stone, Jennifer L., Ogdie, Matthew N., McGough, James J., McCracken, James T., MacPhie, I. Laurence, Francks, Clyde, Fisher, Simon E., Cantor, Rita M., Monaco, Anthony P., and Nelson, Stanley F.

Subjects
Human genetics, Attention-deficit hyperactivity disorder -- Health aspects, Attention-deficit hyperactivity disorder -- Genetic aspects, Attention-deficit hyperactivity disorder -- Demographic aspects, Attention-deficit hyperactivity disorder -- Research, Dopamine -- Genetic aspects, Chromosomes -- Genetic aspects, Biological sciences
Published
2002

70. A genomewide scan for loci involved in attention-deficit/ hyperactivity disorder

Author

Fisher, Simon E., Francks, Clyde, McCracken, James T., McGough, James J., Marlow, Angela J., MacPhie, I. Laurence, Newbury, Dianne F., Crawford, Lori R., Palmer, Christina G.S., Woodward, J. Arthur, Del'Homme, Melissa, Cantwell, Dennis P., Nelson, Stanley F., Monaco, Anthony P., and Smalley, Susan L.

Subjects
Genetic research -- Analysis, Attention-deficit hyperactivity disorder -- Causes of, Behavioral assessment -- Analysis, Diseases -- Causes and theories of causation, Heredity -- Genetic aspects, Biological sciences
Published
2002

71. A genomewide linkage screen for relative hand skill in sibling pairs. (Report)

Author

Francks, Clyde, Fisher, Simon E., MacPhie, I. Laurence, Richardson, Alex J., Marlow, Angela J., Stein, John F., and Monaco, Anthony P.

Subjects
Left- and right-handedness -- Genetic aspects, Brothers and sisters -- Genetic aspects, Reading disability -- Genetic aspects, Biological sciences
Published
2002

72. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L., de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Andrew, Green, Jonathan, Guter, Stephen J., Heron, Elizabeth A., Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P., Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Magalhaes, Tiago R., Mantoulan, Carine, McDougle, Christopher J., Melhem, Nadine M., Merikangas, Alison, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J., Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Schlitt, Sabine, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J., Battaglia, Agatino, Cantor, Rita M., Coon, Hilary, Cuccaro, Michael L., Dawson, Geraldine, Ennis, Sean, Freitag, Christine M., Geschwind, Daniel H., Haines, Jonathan L., Klauck, Sabine M., McMahon, William M., Maestrini, Elena, Miller, Judith, Monaco, Anthony P., Nelson, Stanley F., Nurnberger, John I., Jr., Oliveira, Guiomar, Parr, Jeremy R., Pericak-Vance, Margaret A., Piven, Joseph, Schellenberg, Gerard D., Scherer, Stephen W., Vicente, Astrid M., Wassink, Thomas H., Wijsman, Ellen M., Betancur, Catalina, Buxbaum, Joseph D., Cook, Edwin H., Gallagher, Louise, Gill, Michael, Hallmayer, Joachim, Paterson, Andrew D., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Hakonarson, Hakon, and Devlin, Bernie

Published
2012
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77. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Author

Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, and Monaco, Anthony P

Published
2011
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78. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Author

Gialluisi, Alessandro, primary, Andlauer, Till F. M., additional, Mirza-Schreiber, Nazanin, additional, Moll, Kristina, additional, Becker, Jessica, additional, Hoffmann, Per, additional, Ludwig, Kerstin U., additional, Czamara, Darina, additional, Pourcain, Beate St, additional, Honbolygó, Ferenc, additional, Tóth, Dénes, additional, Csépe, Valéria, additional, Huguet, Guillaume, additional, Chaix, Yves, additional, Iannuzzi, Stephanie, additional, Demonet, Jean-Francois, additional, Morris, Andrew P., additional, Hulslander, Jacqueline, additional, Willcutt, Erik G., additional, DeFries, John C., additional, Olson, Richard K., additional, Smith, Shelley D., additional, Pennington, Bruce F., additional, Vaessen, Anniek, additional, Maurer, Urs, additional, Lyytinen, Heikki, additional, Peyrard-Janvid, Myriam, additional, Leppänen, Paavo H. T., additional, Brandeis, Daniel, additional, Bonte, Milene, additional, Stein, John F., additional, Talcott, Joel B., additional, Fauchereau, Fabien, additional, Wilcke, Arndt, additional, Kirsten, Holger, additional, Müller, Bent, additional, Francks, Clyde, additional, Bourgeron, Thomas, additional, Monaco, Anthony P., additional, Ramus, Franck, additional, Landerl, Karin, additional, Kere, Juha, additional, Scerri, Thomas S., additional, Paracchini, Silvia, additional, Fisher, Simon E., additional, Schumacher, Johannes, additional, Nöthen, Markus M., additional, Müller-Myhsok, Bertram, additional, and Schulte-Körne, Gerd, additional

Published
2020
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80. Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

Author

Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P., Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R., Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A., and Strom, Tim M.

Published
2010
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81. A genome-wide scan for common alleles affecting risk for autism

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Sykes, Nuala, Pagnamenta, Alistair T., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chu, Su H., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Jr., Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Devlin, Bernie, Ennis, Sean, and Hallmayer, Joachim

Published
2010
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82. Functional impact of global rare copy number variation in autism spectrum disorders

Author

Pinto, Dalila, Pagnamenta, Alistair T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bader, Gary D., Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan E., Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chung, Brian H.Y., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Cytrynbaum, Cheryl, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph, Ponting, Chris P., Posey, David J., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Sequeira, Ana F., Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Webber, Caleb, Weksberg, Rosanna, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Wu, Jing, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Hallmayer, Joachim, Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Jr, Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Scherer, Stephen W., Sutcliffe, James S., and Betancur, Catalina

Published
2010
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86. A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia

Author

Fisher, Simon E., Marlow, Angela J., Lamb, Janine, Maestrini, Elena, Williams, Dianne F., Richardson, Alex, J., Weeks, Daniel E., Stein, John F., and Monaco, Anthony P.

Subjects
Chromosome mapping -- Usage, Genetic disorders -- Genetic aspects, Dyslexia -- Genetic aspects, Articulation disorders -- Genetic aspects, Biological sciences
Abstract

Quantitative-trait locus (QTL) methods have been used to evaluate linkage for reading disability, developmental dyslexia, to the 6p25-21.3 region in a sample of 181 sibling pairs from 82 nuclear families selected for having a dyslexic proband. Linkage has been assessed directly for several quantitative measures that should correlate with different components of the phenotype rather than using categorical definitions of subtypes or using one composite measure. Findings show that the QTL affects orthographic and phonological skills and is not specific to phoneme awareness.

Published
1999

87. A genome-wide linkage and association scan reveals novel loci for autism

Author

Weiss, Lauren A., Arking, Dan E., Daly, Mark J., Chakravarti, Aravinda, Brune, Camille W., West, Kristen, O’Connor, Ashley, Hilton, Gina, Tomlinson, Rebecca L., West, Andrew B., Cook, Edwin H., Jr, Green, Todd, Chang, Shun-Chiao, Gabriel, Stacey, Gates, Casey, Hanson, Ellen M., Kirby, Andrew, Korn, Joshua, Kuruvilla, Finny, McCarroll, Steven, Morrow, Eric M., Neale, Benjamin, Purcell, Shaun, Sasanfar, Roksana, Sougnez, Carrie, Stevens, Christine, Altshuler, David, Gusella, James, Santangelo, Susan L., Sklar, Pamela, Tanzi, Rudolph, Anney, Richard, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Betancur, Catalina, Bölte, Sven, Bolton, Patrick F., Brian, Jessica, Bryson, Susan E., Buxbaum, Joseph D., Cabrito, Ines, Cai, Guiqing, Cantor, Rita M., Coon, Hilary, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L., Cuccaro, Michael L., Dawson, Geraldine, de Jonge, Maretha, Devlin, Bernie, Duketis, Eftichia, Ennis, Sean, Estes, Annette, Farrar, Penny, Fombonne, Eric, Freitag, Christine M., Gallagher, Louise, Geschwind, Daniel H., Gilbert, John, Gill, Michael, Gillberg, Christopher, Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Haines, Jonathan L., Hallmayer, Joachim F., Hus, Vanessa, Klauck, Sabine M., Korvatska, Olena, Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda J., Maestrini, Elena, Magalhaes, Tiago, Mahoney, William, Mantoulan, Carine, McConachie, Helen, McDougle, Christopher J., McMahon, William M., Marshall, Christian R., Miller, Judith, Minshew, Nancy J., Monaco, Anthony P., Munson, Jeff, Nurnberger, John I., Jr, Oliveira, Guiomar, Pagnamenta, Alistair, Papanikolaou, Katerina, Parr, Jeremy R., Paterson, Andrew D., Pericak-Vance, Margaret A., Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Regan, Regina, Reichert, Jennifer, Renshaw, Katy, Roberts, Wendy, Roge, Bernadette, Rutter, Michael L., Salt, Jeff, Schellenberg, Gerard D., Scherer, Stephen W., Sheffield, Val, Sutcliffe, James S., Szatmari, Peter, Tansey, Katherine, Thompson, Ann P., Tsiantis, John, Van Engeland, Herman, Vicente, Astrid M., Vieland, Veronica J., Volkmar, Fred, Wallace, Simon, Wassink, Thomas H., Wijsman, Ellen M., Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Yoo, Seung-Yun, Sean Hill, Robert, Mukaddes, Nahit M., Balkhy, Soher, Gascon, Generoso, Al-Saad, Samira, Hashmi, Asif, Ware, Janice, Joseph, Robert M., LeClair, Elaine, Partlow, Jennifer N., Barry, Brenda, Walsh, Christopher A., Pauls, David, Moilanen, Irma, Ebeling, Hanna, Mattila, Marja-Leena, Kuusikko, Sanna, Jussila, Katja, Ignatius, Jaakko, Tolouei, Ala, Ghadami, Majid, Rostami, Maryam, Hosseinipour, Azam, Valujerdi, Maryam, Andresen, Kara, Winkloski, Brian, Haddad, Stephen, Kunkel, Lou, Kohane, Zak, Tran, Tram, Won Kong, Sek, O’Neil, Stephanie Brewster, Hundley, Rachel, Holm, Ingrid, Peters, Heather, Baroni, Elizabeth, Cangialose, Aislyn, Jackson, Lindsay, Albers, Lisa, Becker, Ronald, Bridgemohan, Carolyn, Friedman, Sandra, Munir, Kerim, Nazir, Ramzi, Palfrey, Judith, Schonwald, Alison, Simmons, Esau, Rappaport, Leonard A., Gauthier, Julie, Mottron, Laurent, Joober, Ridha, Rouleau, Guy, Rehnstrom, Karola, von Wendt, Lennart, and Peltonen, Leena

Published
2009
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94. Choreoacanthocytosis in a Mexican Family

Author

Ruiz-Sandoval, José L., García-Navarro, Víctor, Chiquete, Erwin, Dobson-Stone, Carol, Monaco, Anthony P., Álvarez-Palazuelos, Lucía E., Padilla-Martínez, Juan J., Barrera-Chairez, Esperanza, Rodríguez-Figueroa, Erika I., and Pérez-García, Guillermo

Published
2007

97. Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

Author

Monk, Sarah, Sakuntabhai, Anavaj, Carter, Simon A., Bryce, Steven D., Cox, Roger, Harrington, Louise, Levy, Elaine, Ruiz-Perez, Victor L., Katsantoni, Eleni, Kodvawala, Ahmer, Munro, Colin S., Burge, Susan, Larregue, Marc, Nagy, Gyula, Rees, Jonathan L., Lathrop, Mark, Monaco, Anthony P., Strachan, Tom, and Hovnanian, Alain

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Skin -- Abnormalities, Keratinization -- Genetic aspects, Cell adhesion -- Genetic aspects, Biological sciences
Abstract

Darier disease (DD), an autosomal dominant skin disorder involving loss of adhesion between epidermal cells and abnormal keratinization, has been studied in four families. Linkage analysis has shown key recombination events to refine the DD locus to a

Published
1998

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