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Article ; Online: Coil Embolization as a Life-Saving Treatment for Pulmonary Artery Perforation Secondary to Large-Bore Catheterization.

Varghese, Joji / Estes, Bailey Ann / Augustine, Ashlyn / Menon, Sukrita / Varghese, Theresa / Yoder, Grady

JACC. Case reports

2023 Volume 21, Page(s) 101964

Abstract: We present a case of left pulmonary artery perforation during mechanical thrombectomy for treatment of pulmonary embolism. The patient's condition became hemodynamically unstable, with massive hemoptysis requiring intubation and multiple vasopressor ... ...

Abstract	We present a case of left pulmonary artery perforation during mechanical thrombectomy for treatment of pulmonary embolism. The patient's condition became hemodynamically unstable, with massive hemoptysis requiring intubation and multiple vasopressor agents. Prompt balloon tamponade and 0.035-mm coil embolization halted the extravasation. Coil embolization can be a lifesaving treatment for large vessel perforations. (
Language	English
Publishing date	2023-08-11
Publishing country	Netherlands
Document type	Case Reports
ISSN	2666-0849
ISSN (online)	2666-0849
DOI	10.1016/j.jaccas.2023.101964
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Article ; Online: Contemporary nursing care in transcatheter aortic valve replacement.

Estes, Bailey Ann / Kalra, Ankur

Journal of vascular nursing : official publication of the Society for Peripheral Vascular Nursing

2018 Volume 36, Issue 4, Page(s) 186–188

Abstract: The purpose of this article is to inform nurses of the latest trend in the care of patients with aortic stenosis using transcatheter aortic valve replacement and pertinent knowledge regarding the care of these patients. ...

Abstract	The purpose of this article is to inform nurses of the latest trend in the care of patients with aortic stenosis using transcatheter aortic valve replacement and pertinent knowledge regarding the care of these patients.
MeSH term(s)	Aortic Valve Stenosis/nursing ; Heart Valve Prosthesis ; Humans ; Nursing Care/methods ; Risk Factors ; Severity of Illness Index ; Transcatheter Aortic Valve Replacement/adverse effects ; Transcatheter Aortic Valve Replacement/nursing ; Treatment Outcome
Language	English
Publishing date	2018-09-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	1083367-5
ISSN	1532-6578 ; 1062-0303
ISSN (online)	1532-6578
ISSN	1062-0303
DOI	10.1016/j.jvn.2018.08.001
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Zs.A 3297: Show issues

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Article ; Online: Logistical, Financial, and Psychological Impact of the COVID-19 Pandemic on Cardiac Catheterization Lab Nurses and Technologists: A U.S. National Survey.

Estes, Bailey Ann / Varghese, Joji J / Jacques, Jared / Naidu, Srihari S

The Journal of invasive cardiology

2020 Volume 33, Issue 1, Page(s) E9–E15

Abstract: Objectives: Coronavirus 2019 (COVID-19) significantly impacted cardiac care delivery in a manner that has not been previously experienced in the United States. Attention and resources have focused on physicians, patients, and healthcare systems with ... ...

Abstract	Objectives: Coronavirus 2019 (COVID-19) significantly impacted cardiac care delivery in a manner that has not been previously experienced in the United States. Attention and resources have focused on physicians, patients, and healthcare systems with little information regarding the effects on nurses and technologists in the cardiac catheterization laboratory (CCL). Methods: A national, online survey was conducted for nurses and technologists working in the CCL in the United States. The survey was self administered, anonymous, and included 45 questions assessing baseline demographics, logistical changes to workflow and responsibilities, staff preparedness, and mental health. Results: A total of 450 respondents completed the survey, including 283 nurses (63%) and 167 technologists (37%). A total of 349 (78%) were female and mean age range was 41-50 years. Responses indicated that 68% were the primary financial provider for their families, and 74% experienced >75% decrease in case volume despite a low inpatient COVID-19 census (54% of respondents with census <10%). There were high rates of direct care for COVID-19 patients (47%), relocation (45%), lay-off/furloughs of part-time or per diem staff (42%), lay-offs of full-time staff (12%), and decreased work hours (65%). A total of 95% expressed decreased morale with an increase in mental distress, including depression (36%). Predictors of depression included relocation status, staff preparedness, and work hours. Conclusion: Logistical changes to CCL staffing resulted in relocation, lay-offs, furloughs, and diminished work hours, with financial and emotional ramifications. Particular attention should be paid to those in large urban hospitals, those at risk for relocation, layoffs, and furloughs, and when preparedness and administrative communication is perceived as poor.
MeSH term(s)	Adult ; COVID-19/epidemiology ; Cardiac Catheterization/economics ; Cardiac Catheterization/nursing ; Comorbidity ; Cross-Sectional Studies ; Female ; Health Care Costs ; Heart Diseases/diagnosis ; Heart Diseases/economics ; Heart Diseases/epidemiology ; Humans ; Male ; Middle Aged ; Pandemics/economics ; Population Surveillance/methods ; Retrospective Studies ; SARS-CoV-2 ; United States/epidemiology
Language	English
Publishing date	2020-12-06
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	1154372-3
ISSN	1557-2501 ; 1042-3931
ISSN (online)	1557-2501
ISSN	1042-3931
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Zs.A 3701: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Utilization Rates of Diagnostic and Therapeutic Vascular Procedures Among Patients Undergoing Lower Extremity Amputations in a Rural Community Hospital: A Clinicopathological Correlation.

Varghese, Joji J / Estes, Bailey Ann / Martinsen, Brad J / Igyarto, Zsuzsanna / Mustapha, Jihad / Saab, Fadi / Naidu, Srihari S

Vascular and endovascular surgery

2020 Volume 55, Issue 4, Page(s) 325–331

Abstract: Background: Significant geographical variations exist in amputation rates and utilization of diagnostic and therapeutic vascular procedures before lower extremity amputations in the United States. The purpose of this study was to evaluate the rates of ... ...

Abstract	Background: Significant geographical variations exist in amputation rates and utilization of diagnostic and therapeutic vascular procedures before lower extremity amputations in the United States. The purpose of this study was to evaluate the rates of diagnostic and therapeutic vascular procedures in the year prior to amputation in a contemporary population and correlate with pathological findings of the amputation specimens. Methods: A retrospective analysis was conducted of non-traumatic amputations from 2011 to 2017 at a rural community hospital. We reviewed the proportion of patients undergoing diagnostic (ankle brachial index with duplex ultrasound, computerized tomography angiogram and invasive angiogram) and therapeutic (endovascular and surgical revascularization) vascular procedures in the year prior to amputation. Prevalence of tissue viability and osteomyelitis were evaluated in all amputated specimens and atherosclerotic vascular disease (ASVD) was evaluated in major amputations. We also analyzed primary amputation rates among different subgroups. Results: 698 patients were included with 248 (36%) major amputations and 450 (64%) minor amputations. Any diagnostic procedure was performed in 59% of the major amputations and 49% of the minor amputations (P = 0.01). Any therapeutic revascularization procedure was performed in 34% of the major amputations and 28% of the minor amputations (P = 0.08). The pathology of major amputation specimens revealed severe ASVD in 57% and mild-moderate ASVD in 27% of specimens. Tissue viability was significantly higher in major amputations (90% vs 30%, P = 0.04) and osteomyelitis was significantly higher in minor amputations (50% vs 14%, P = 0.03). Primary amputations were performed in 66% of major amputations, 72% of minor amputations, 81% with mild to moderate ASVD and 54% with severe ASVD. Conclusion: Diagnostic and therapeutic vascular procedures appear under-utilized for patients undergoing lower extremity amputations at a rural community hospital. ASVD rates and tissue viability imply that revascularization could be of significant benefit to avoid major amputation.
MeSH term(s)	Aged ; Amputation/trends ; Ankle Brachial Index/trends ; Computed Tomography Angiography/trends ; Endovascular Procedures/trends ; Female ; Health Services Misuse/trends ; Healthcare Disparities/trends ; Hospitals, Community/trends ; Hospitals, Rural/trends ; Humans ; Lower Extremity/blood supply ; Male ; Middle Aged ; Outcome and Process Assessment, Health Care/trends ; Peripheral Arterial Disease/diagnostic imaging ; Peripheral Arterial Disease/pathology ; Peripheral Arterial Disease/surgery ; Practice Patterns, Physicians'/trends ; Predictive Value of Tests ; Retrospective Studies ; Time Factors ; Treatment Outcome ; Ultrasonography, Doppler, Duplex/trends ; Vascular Surgical Procedures/trends
Language	English
Publishing date	2020-11-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2076272-0
ISSN	1938-9116 ; 1538-5744
ISSN (online)	1938-9116
ISSN	1538-5744
DOI	10.1177/1538574420975588
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Article ; Online: Individual common variants exert weak effects on the risk for autism spectrum disorders.

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, J A S / 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 / 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 / Devlin, Bernie

Human molecular genetics

2012 Volume 21, Issue 21, Page(s) 4781–4792

Abstract: While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, ...

Abstract	While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
MeSH term(s)	Alleles ; Child ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/physiopathology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Language Development ; Male ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Polymorphism, Single Nucleotide ; Risk Factors
Chemical Substances	CNTNAP2 protein, human ; Membrane Proteins ; Nerve Tissue Proteins
Language	English
Publishing date	2012-07-26
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/dds301
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Article ; Online: A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey, Jillian P / Magalhaes, Tiago / Conroy, Judith M / Regan, Regina / Shah, Naisha / Anney, Richard / Shields, Denis C / Abrahams, Brett S / Almeida, Joana / Bacchelli, Elena / Bailey, Anthony J / Baird, Gillian / Battaglia, Agatino / Berney, Tom / Bolshakova, Nadia / Bolton, Patrick F / Bourgeron, Thomas / Brennan, Sean / Cali, Phil /

Correia, Catarina / Corsello, Christina / Coutanche, Marc / Dawson, Geraldine / de Jonge, Maretha / Delorme, Richard / Duketis, Eftichia / Duque, Frederico / Estes, Annette / Farrar, Penny / Fernandez, Bridget A / Folstein, Susan E / Foley, Suzanne / Fombonne, Eric / Freitag, Christine M / Gilbert, John / Gillberg, Christopher / Glessner, Joseph T / Green, Jonathan / Guter, Stephen J / Hakonarson, Hakon / Holt, Richard / Hughes, Gillian / Hus, Vanessa / Igliozzi, Roberta / Kim, Cecilia / Klauck, Sabine M / Kolevzon, Alexander / Lamb, Janine A / Leboyer, Marion / Le Couteur, Ann / Leventhal, Bennett L / Lord, Catherine / Lund, Sabata C / Maestrini, Elena / Mantoulan, Carine / Marshall, Christian R / McConachie, Helen / McDougle, Christopher J / McGrath, Jane / McMahon, William M / Merikangas, Alison / Miller, Judith / Minopoli, Fiorella / Mirza, Ghazala K / Munson, Jeff / Nelson, Stanley F / Nygren, Gudrun / Oliveira, Guiomar / Pagnamenta, Alistair T / Papanikolaou, Katerina / Parr, Jeremy R / Parrini, Barbara / Pickles, Andrew / Pinto, Dalila / Piven, Joseph / Posey, David J / Poustka, Annemarie / Poustka, Fritz / Ragoussis, Jiannis / Roge, Bernadette / Rutter, Michael L / Sequeira, Ana F / Soorya, Latha / Sousa, Inês / Sykes, Nuala / Stoppioni, Vera / Tancredi, Raffaella / Tauber, Maïté / Thompson, Ann P / Thomson, Susanne / Tsiantis, John / Van Engeland, Herman / Vincent, John B / Volkmar, Fred / Vorstman, Jacob A S / Wallace, Simon / Wang, Kai / Wassink, Thomas H / White, Kathy / Wing, Kirsty / Wittemeyer, Kerstin / Yaspan, Brian L / Zwaigenbaum, Lonnie / Betancur, Catalina / Buxbaum, Joseph D / Cantor, Rita M / Cook, Edwin H / Coon, Hilary / Cuccaro, Michael L / Geschwind, Daniel H / Haines, Jonathan L / Hallmayer, Joachim / Monaco, Anthony P / Nurnberger, John I / Pericak-Vance, Margaret A / Schellenberg, Gerard D / Scherer, Stephen W / Sutcliffe, James S / Szatmari, Peter / Vieland, Veronica J / Wijsman, Ellen M / Green, Andrew / Gill, Michael / Gallagher, Louise / Vicente, Astrid / Ennis, Sean

Human genetics

2011 Volume 131, Issue 4, Page(s) 565–579

Abstract: Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social ... ...

Abstract	Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
MeSH term(s)	Adult ; Child ; Child Development Disorders, Pervasive/genetics ; Cluster Analysis ; Cohort Studies ; DNA Copy Number Variations ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Genotype ; Haplotypes/genetics ; Homozygote ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Nuclear Family ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2011-10-14
Publishing country	Germany
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-011-1094-6
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Article: Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Szatmari, Peter / Paterson, Andrew D / Zwaigenbaum, Lonnie / Roberts, Wendy / Brian, Jessica / Liu, Xiao-Qing / Vincent, John B / Skaug, Jennifer L / Thompson, Ann P / Senman, Lili / Feuk, Lars / Qian, Cheng / Bryson, Susan E / Jones, Marshall B / Marshall, Christian R / Scherer, Stephen W / Vieland, Veronica J / Bartlett, Christopher / Mangin, La Vonne /

Goedken, Rhinda / Segre, Alberto / Pericak-Vance, Margaret A / Cuccaro, Michael L / Gilbert, John R / Wright, Harry H / Abramson, Ruth K / Betancur, Catalina / Bourgeron, Thomas / Gillberg, Christopher / Leboyer, Marion / Buxbaum, Joseph D / Davis, Kenneth L / Hollander, Eric / Silverman, Jeremy M / Hallmayer, Joachim / Lotspeich, Linda / Sutcliffe, James S / Haines, Jonathan L / Folstein, Susan E / Piven, Joseph / Wassink, Thomas H / Sheffield, Val / Geschwind, Daniel H / Bucan, Maja / Brown, W Ted / Cantor, Rita M / Constantino, John N / Gilliam, T Conrad / Herbert, Martha / Lajonchere, Clara / Ledbetter, David H / Lese-Martin, Christa / Miller, Janet / Nelson, Stan / Samango-Sprouse, Carol A / Spence, Sarah / State, Matthew / Tanzi, Rudolph E / Coon, Hilary / Dawson, Geraldine / Devlin, Bernie / Estes, Annette / Flodman, Pamela / Klei, Lambertus / McMahon, William M / Minshew, Nancy / Munson, Jeff / Korvatska, Elena / Rodier, Patricia M / Schellenberg, Gerard D / Smith, Moyra / Spence, M Anne / Stodgell, Chris / Tepper, Ping Guo / Wijsman, Ellen M / Yu, Chang-En / Rogé, Bernadette / Mantoulan, Carine / Wittemeyer, Kerstin / Poustka, Annemarie / Felder, Bärbel / Klauck, Sabine M / Schuster, Claudia / Poustka, Fritz / Bölte, Sven / Feineis-Matthews, Sabine / Herbrecht, Evelyn / Schmötzer, Gabi / Tsiantis, John / Papanikolaou, Katerina / Maestrini, Elena / Bacchelli, Elena / Blasi, Francesca / Carone, Simona / Toma, Claudio / Van Engeland, Herman / de Jonge, Maretha / Kemner, Chantal / Koop, Frederieke / Koop, Frederike / Langemeijer, Marjolein / Langemeijer, Marjolijn / Hijmans, Channa / Hijimans, Channa / Staal, Wouter G / Baird, Gillian / Bolton, Patrick F / Rutter, Michael L / Weisblatt, Emma / Green, Jonathan / Aldred, Catherine / Wilkinson, Julie-Anne / Pickles, Andrew / Le Couteur, Ann / Berney, Tom / McConachie, Helen / Bailey, Anthony J / Francis, Kostas / Honeyman, Gemma / Hutchinson, Aislinn / Parr, Jeremy R / Wallace, Simon / Monaco, Anthony P / Barnby, Gabrielle / Kobayashi, Kazuhiro / Lamb, Janine A / Sousa, Ines / Sykes, Nuala / Cook, Edwin H / Guter, Stephen J / Leventhal, Bennett L / Salt, Jeff / Lord, Catherine / Corsello, Christina / Hus, Vanessa / Weeks, Daniel E / Volkmar, Fred / Tauber, Maïté / Fombonne, Eric / Shih, Andy / Meyer, Kacie J

Nature genetics

2007 Volume 39, Issue 3, Page(s) 319–328

Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ... ...

Abstract	Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
MeSH term(s)	Autistic Disorder/diagnosis ; Autistic Disorder/genetics ; Chromosome Aberrations ; Chromosome Mapping ; Family ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetic Variation ; Humans ; Lod Score ; Male ; Risk Factors
Language	English
Publishing date	2007-02-18
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng1985
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Article ; Online: A genome-wide scan for common alleles affecting risk for autism.

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 / 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 / Hallmayer, Joachim

Human molecular genetics

2010 Volume 19, Issue 20, Page(s) 4072–4082

Abstract: Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) ... ...

Abstract	Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
MeSH term(s)	Alleles ; Autistic Disorder/genetics ; DNA Copy Number Variations ; Databases, Genetic ; Genetic Predisposition to Disease ; Genetic Variation ; Genome, Human ; Genome-Wide Association Study ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors ; Whites/genetics
Language	English
Publishing date	2010-07-27
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddq307
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Functional impact of global rare copy number variation in autism spectrum disorders.

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 / 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 / Betancur, Catalina

Nature

2010 Volume 466, Issue 7304, Page(s) 368–372

Abstract: The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive ... ...

Abstract	The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
MeSH term(s)	Case-Control Studies ; Cell Movement ; Child ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/pathology ; Child Development Disorders, Pervasive/physiopathology ; Cytoprotection ; DNA Copy Number Variations/genetics ; Europe/ethnology ; Gene Dosage/genetics ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Signal Transduction ; Social Behavior
Language	English
Publishing date	2010-06-09
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/nature09146
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Book ; Online: Language Variety in the South Revisited

Bernstein, Cynthia / Ash, Sharon / Bailey, Guy H / Bayley, Robert / Brewer, Jeutonne P / Butters, Ronald R / Cassidy, Frederic G / Ching, Marvin K. L / Coles, Felice Anne / Cooley, Marianne / Craig, Chris / Cukor-Avila, Patricia / Davies, Catherine Evans / Davis, Boyd / Edwards, Walter F / Faries, Rachel B / Feagin, Crawford / Frazer, Timothy C / Hall, Joan Houston /

Hazen, Kirk / Johnson, Ellen / Johnstone, Barbara / Klingler, Thomas A / Kretzschmar, William A / Kung, Hsiang-te / Labov, William / Lance, Donald M / Maynor, Natalie / Metcalf, Allan / Mille, Katherine Wyly / Montgomery, Michael B / Mufwene, Salikoko / Neely, Leah / Nunnally, Thomas / Picone, Michael D / Preston, Dennis R / Sabino, Robin / Schilling-Estes, Natalie / Schneider, Edgar W / Smilowitz, Michael / Southard, Bruce / Taylor, William D / Tillery, Jan / Weatherly, Joan / Wikle, Tom / Wilmeth, Thomas / Wolfram, Walt / von Schneidemesser, Luanne

2012

Abstract: Top linguists from diverse fields address language varieties in the South. Language Variety in the South Revisited is a comprehensive collection of new research on southern United States English by foremost scholars of regional language variation. Like ...

Abstract	Top linguists from diverse fields address language varieties in the South. Language Variety in the South Revisited is a comprehensive collection of new research on southern United States English by foremost scholars of regional language variation. Like its predecessor, Language Variety in the South: Perspectives in Black and White (The University of Alabama Press, 1986), this book includes current research into African American vernacular English, but it greatly expands the scope of investigation and offers an extensive assessment of the field. The volume encompasses studies of contact invo
Language	English
Size	Online-Ressource (656 p)
Publisher	University of Alabama Press
Publishing place	Tuscaloosa
Document type	Book ; Online
Note	Description based upon print version of record
ISBN	9780817308827 ; 0817308822
Database	Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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