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Find video protocols related to scientific articles indexed in Pubmed.
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
Dongmei Yu, Carol A Mathews, Jeremiah M Scharf, Benjamin M Neale, Lea K Davis, Eric R Gamazon, Eske M Derks, Patrick Evans, Christopher K Edlund, Jacquelyn Crane, Jesen A Fagerness, Lisa Osiecki, Patience Gallagher, Gloria Gerber, Stephen Haddad, Cornelia Illmann, Lauren M McGrath, Catherine Mayerfeld, Sampath Arepalli, Cristina Barlassina, Cathy L Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, O Joseph Bienvenu, Donald W Black, Michael H Bloch, Helena Brentani, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Desmond D Campbell, Carolina Cappi, Julio C Cardona Silgado, Maria C Cavallini, Denise A Chavira, Sylvain Chouinard, Edwin H Cook, M R Cookson, Vladimir Coric, Bernadette Cullen, Daniele Cusi, Richard Delorme, Damiaan Denys, Yves Dion, Valsama Eapen, Karin Egberts, Peter Falkai, Thomas Fernandez, Eduardo Fournier, Helena Garrido, Daniel Geller, Donald Gilbert, Simon L Girard, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Edna Grünblatt, John Hardy, Gary A Heiman, Sian M J Hemmings, Luis D Herrera, Dianne M Hezel, Pieter J Hoekstra, Joseph Jankovic, James L Kennedy, Robert A King, Anuar I Konkashbaev, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L Lowe, Sara Lupoli, Fabio Macciardi, Wolfgang Maier, Paolo Manunta, Maurizio Marconi, James T McCracken, Sandra C Mesa Restrepo, Rainald Moessner, Priya Moorjani, Jubel Morgan, Heike Muller, Dennis L Murphy, Allan L Naarden, Erika Nurmi, William Cornejo Ochoa, Roel A Ophoff, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L Rauch, Tobias Renner, Victor I Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Roxana Romero, Maria C Rosário, David Rosenberg, Stephan Ruhrmann, Chiara Sabatti, Erika Salvi, Aline S Sampaio, Jack Samuels, Paul Sandor, Susan K Service, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, Eric Strengman, Jay A Tischfield, Maurizio Turiel, Ana V Valencia Duarte, Homero Vallada, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Mike Weale, Robert Weiss, Jens R Wendland, Herman G M Westenberg, Yin Yao Shugart, Ana G Hounie, Euripedes C Miguel, Humberto Nicolini, Michael Wagner, Andrés Ruiz-Linares, Danielle C Cath, William McMahon, Danielle Posthuma, Ben A Oostra, Gerald Nestadt, Guy A Rouleau, Shaun Purcell, Michael A Jenike, Peter Heutink, Gregory L Hanna, David V Conti, Paul D Arnold, Nelson B Freimer, S Evelyn Stewart, James A Knowles, Nancy J Cox, David L Pauls.
Am J Psychiatry
PUBLISHED: 08-26-2014
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Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.
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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
Lauren M McGrath, Dongmei Yu, Christian Marshall, Lea K Davis, Bhooma Thiruvahindrapuram, Bingbin Li, Carolina Cappi, Gloria Gerber, Aaron Wolf, Frederick A Schroeder, Lisa Osiecki, Colm O'Dushlaine, Andrew Kirby, Cornelia Illmann, Stephen Haddad, Patience Gallagher, Jesen A Fagerness, Cathy L Barr, Laura Bellodi, Fortu Benarroch, O Joseph Bienvenu, Donald W Black, Michael H Bloch, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Danielle C Cath, Maria C Cavallini, Sylvain Chouinard, Vladimir Coric, Bernadette Cullen, Richard Delorme, Damiaan Denys, Eske M Derks, Yves Dion, Maria C Rosário, Valsama Eapen, Patrick Evans, Peter Falkai, Thomas V Fernandez, Helena Garrido, Daniel Geller, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Edna Grünblatt, Gary A Heiman, Sian M J Hemmings, Luis D Herrera, Ana G Hounie, Joseph Jankovic, James L Kennedy, Robert A King, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Christine Lochner, Thomas L Lowe, Gholson J Lyon, Fabio Macciardi, Wolfgang Maier, James T McCracken, William McMahon, Dennis L Murphy, Allan L Naarden, Benjamin M Neale, Erika Nurmi, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Victor I Reus, Margaret A Richter, Mark Riddle, Mary M Robertson, David Rosenberg, Guy A Rouleau, Stephan Ruhrmann, Aline S Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, Jay A Tischfield, Homero Vallada, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Jens R Wendland, Yin Yao Shugart, Euripedes C Miguel, Humberto Nicolini, Ben A Oostra, Rainald Moessner, Michael Wagner, Andrés Ruiz-Linares, Peter Heutink, Gerald Nestadt, Nelson Freimer, Tracey Petryshen, Danielle Posthuma, Michael A Jenike, Nancy J Cox, Gregory L Hanna, Helena Brentani, Stephen W Scherer, Paul D Arnold, S Evelyn Stewart, Carol A Mathews, James A Knowles, Edwin H Cook, David L Pauls, Kai Wang, Jeremiah M Scharf.
J Am Acad Child Adolesc Psychiatry
PUBLISHED: 03-16-2014
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Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date.
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
Lea K Davis, Dongmei Yu, Clare L Keenan, Eric R Gamazon, Anuar I Konkashbaev, Eske M Derks, Benjamin M Neale, Jian Yang, S Hong Lee, Patrick Evans, Cathy L Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, Oscar J Bienvenu, Michael H Bloch, Rianne M Blom, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Desmond Campbell, Carolina Cappi, Julio C Cardona Silgado, Danielle C Cath, Maria C Cavallini, Denise A Chavira, Sylvain Chouinard, David V Conti, Edwin H Cook, Vladimir Coric, Bernadette A Cullen, Dieter Deforce, Richard Delorme, Yves Dion, Christopher K Edlund, Karin Egberts, Peter Falkai, Thomas V Fernandez, Patience J Gallagher, Helena Garrido, Daniel Geller, Simon L Girard, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Stephen Haddad, Gary A Heiman, Sian M J Hemmings, Ana G Hounie, Cornelia Illmann, Joseph Jankovic, Michael A Jenike, James L Kennedy, Robert A King, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L Lowe, Fabio Macciardi, James T McCracken, Lauren M McGrath, Sandra C Mesa Restrepo, Rainald Moessner, Jubel Morgan, Heike Muller, Dennis L Murphy, Allan L Naarden, William Cornejo Ochoa, Roel A Ophoff, Lisa Osiecki, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L Rauch, Tobias J Renner, Victor I Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Roxana Romero, Maria C Rosário, David Rosenberg, Guy A Rouleau, Stephan Ruhrmann, Andrés Ruiz-Linares, Aline S Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, E Strengman, Jay A Tischfield, Ana V Valencia Duarte, Homero Vallada, Filip Van Nieuwerburgh, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Jens R Wendland, Herman G M Westenberg, Yin Yao Shugart, Euripedes C Miguel, William McMahon, Michael Wagner, Humberto Nicolini, Danielle Posthuma, Gregory L Hanna, Peter Heutink, Damiaan Denys, Paul D Arnold, Ben A Oostra, Gerald Nestadt, Nelson B Freimer, David L Pauls, Naomi R Wray, S Evelyn Stewart, Carol A Mathews, James A Knowles, Nancy J Cox, Jeremiah M Scharf.
PLoS Genet.
PUBLISHED: 10-01-2013
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The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
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Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.
Am. J. Med. Genet. A
PUBLISHED: 04-02-2013
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Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by an insatiable appetite, dysmorphic features, cognitive and behavioral difficulties, and hypogonadism. The heterogeneous reproductive hormone profiles indicate that some PWS women may have symptoms of hypoestrogenism, while others may potentially be fertile. We describe our experience in the assessment and treatment of hypogonadism in adolescents and adult females with PWS. The study population consisted of 20 PWS females, age ?16 years (27.3?±?7.9 years), followed in our clinic (12 deletion, 7 uniparental disomy, 1 imprinting-center defect). General physical examination, pubertal assessment, body mass index (BMI), gynecological examination, ultrasonography, bone densitometry, and hormonal profiles [FSH, LH, inhibin B, estradiol, prolactin, and TSH] were performed. The relevant assessed factors were: FSH and inhibin B, menstrual cycles (oligo/amenorrhea or irregular bleeding), ultrasound findings (endometrial thickness, uterine/ovarian abnormalities), BMI, bone densitometry, and patient/caregivers attitude. We classified seven women with inhibin B >20?ng/ml as potentially fertile. Following the assessment of the above factors, we recommended the individual-specific treatment; contraceptive pills, intra-uterine device, estrogen/progesterone replacement, and cyclic progesterone, in 3, 1, 4, and 1 patients, respectively. Four patients did not follow our recommendations due to poor compliance or family refusal. We recommended contraception pills for one 26-year-old woman with inhibin B and FSH levels 53?ng/ml and 6.4?IU/L; however, she refused treatment, conceived spontaneously and had an abortion. Guidelines for hormonal replacement therapy in PWS need to be tailored individually depending on physical development, hormonal profiles, bone density, and emotional and social needs of each PWS adolescent and adult. © 2013 Wiley Periodicals, Inc.
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Body image and sexual interests in adolescents and young adults with Prader-Willi syndrome.
J. Pediatr. Endocrinol. Metab.
PUBLISHED: 09-22-2011
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Hypogonadism is a major feature of Prader-Willi syndrome (PWS), but clinical manifestations are variable. Sexual interests and behavior in this population have not been previously described.
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Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction.
Eur. J. Endocrinol.
PUBLISHED: 11-27-2009
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The variable hypogonadism in Prader-Willi syndrome (PWS) has generally been attributed to hypothalamic dysfunction. Recent studies have documented primary testicular dysfunction in PWS males. Our aims were to characterize sexual development and reproductive hormones in PWS females and to investigate the etiology of hypogonadism.
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Tourette syndrome-associated psychopathology: roles of comorbid attention-deficit hyperactivity disorder and obsessive-compulsive disorder.
J Dev Behav Pediatr
PUBLISHED: 10-16-2009
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Individuals with Tourette syndrome (TS) often display comorbid symptoms of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), as well as externalizing and internalizing behaviors. This study was aimed to examine the impacts of tic severity, ADHD symptoms, and OCD on internalizing (e.g., anxiety) and externalizing (e.g., aggression) psychopathology.
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Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome.
Horm. Res.
PUBLISHED: 09-01-2009
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To investigate the etiology of hypogonadism in women with Prader-Willi Syndrome (PWS).
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Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.
J. Clin. Endocrinol. Metab.
PUBLISHED: 04-28-2009
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Recent studies challenge the assumption that hypogonadism in Prader-Willi syndrome (PWS) is due only to hypothalamic dysfunction.
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Normal insulin-like peptide-3 levels despite low testosterone in adult males with Prader-Willi syndrome: variations in Leydig cell function from infancy through adulthood.
J. Clin. Endocrinol. Metab.
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Cryptorchidism, incomplete pubertal development, and low testosterone are manifestations of hypogonadism in Prader-Willi syndrome (PWS). Insulin-like peptide-3 (INSL3) facilitates testicular descent in the fetus and reflects Leydig cell number in adults. INSL3 levels in PWS have not been previously reported.
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The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction.
Reprod. Biol. Endocrinol.
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We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.