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Article ; Online: Augmentation Mastopexy-An Algorithm to Demystify Surgical Planning.

Chapman, Jade / Birch, Theo

2023 Volume 47, Issue 5, Page(s) 2194–2196

Abstract: As individual procedures breast augmentation and mastopexy are relatively simple and low-risk procedures. Simply, breast augmentation comprises of placing an implant under breast tissue or a combination or breast tissue and muscle (Spear and Giese in ... ...

Abstract	As individual procedures breast augmentation and mastopexy are relatively simple and low-risk procedures. Simply, breast augmentation comprises of placing an implant under breast tissue or a combination or breast tissue and muscle (Spear and Giese in Aesth Surg J 20(2):155-164, 2020. https://doi.org/10.1067/maj.2000.106474 ). Mastopexy involves reshaping the breast and commonly raising the nipple
MeSH term(s)	Animals ; Retrospective Studies ; Mammaplasty/methods ; Breast Implants ; Nipples/surgery ; Algorithms ; Treatment Outcome ; Esthetics ; Breast Implantation/adverse effects ; Breast Implantation/methods
Language	English
Publishing date	2023-05-10
Publishing country	United States
Document type	Letter
ZDB-ID	532791-x
ISSN	1432-5241 ; 0364-216X
ISSN (online)	1432-5241
ISSN	0364-216X
DOI	10.1007/s00266-023-03337-8
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Zs.A 1296: Show issues

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Article ; Online: The Gore-Tex Suture in Periareolar Closure: A Modified Closure Technique.

Chapman, Jade / Ingram, Scott

Aesthetic plastic surgery

2016 Volume 40, Issue 6, Page(s) 885–886

Abstract: In breast reduction and mastopexy procedures, the periareolar closure forms a vital component of the surgery. Periareolar closures completed with an absorbable suture may be prone to significant widening, hypertrophy and/or areolar distortion. In an ... ...

Abstract	In breast reduction and mastopexy procedures, the periareolar closure forms a vital component of the surgery. Periareolar closures completed with an absorbable suture may be prone to significant widening, hypertrophy and/or areolar distortion. In an effort to avoid this, some surgeons use a non-absorbable/permanent suture material [Franco (Arch Plast Surg 41 (6): 728-733, 2014)]. Hammond (Plast Reconstr Surg 119 (3):804-809, 2007) recommends the use of a Gore-Tex® suture for this purpose in view of the supple, pliable nature of the material; however, there remain at least occasional instances of infection and extrusion of the knot used to tie off the Gore-Tex "purse-string" [Franco (Arch Plast Surg 41 (6): 728-733, 2014); Salgarello (Aesthet Plast Surg 37 (5):1061-1062, 2013)]. We describe a method of securing the suture ends, which avoids the creation of a bulky knot, thus minimising the risk of infection and suture extrusion. Level of Evidence V This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
MeSH term(s)	Esthetics ; Female ; Humans ; Mammaplasty/methods ; Nipples/surgery ; Polytetrafluoroethylene/therapeutic use ; Suture Techniques ; Sutures ; Treatment Outcome ; Wound Closure Techniques
Chemical Substances	Polytetrafluoroethylene (9002-84-0)
Language	English
Publishing date	2016-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	532791-x
ISSN	1432-5241 ; 0364-216X
ISSN (online)	1432-5241
ISSN	0364-216X
DOI	10.1007/s00266-016-0696-8
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Article ; Online: Genetic variation at the CELF1 (CUGBP, elav-like family member 1 gene) locus is genome-wide associated with Alzheimer's disease and obesity.

Hinney, Anke / Albayrak, Ozgür / Antel, Jochen / Volckmar, Anna-Lena / Sims, Rebecca / Chapman, Jade / Harold, Denise / Gerrish, Amy / Heid, Iris M / Winkler, Thomas W / Scherag, André / Wiltfang, Jens / Williams, Julie / Hebebrand, Johannes

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

2014 Volume 165B, Issue 4, Page(s) 283–293

Abstract: Deviations from normal body weight are observed prior to and after the onset of Alzheimer's disease (AD). Midlife obesity confers increased AD risk in later life, whereas late-life obesity is associated with decreased AD risk. The role of underweight and ...

Abstract	Deviations from normal body weight are observed prior to and after the onset of Alzheimer's disease (AD). Midlife obesity confers increased AD risk in later life, whereas late-life obesity is associated with decreased AD risk. The role of underweight and weight loss for AD risk is controversial. Based on the hypothesis of shared genetic variants for both obesity and AD, we analyzed the variants identified for AD or obesity from genome-wide association meta-analyses of the GERAD (AD, cases = 6,688, controls = 13,685) and GIANT (body mass index [BMI] as measure of obesity, n = 123,865) consortia. Our cross-disorder analysis of genome-wide significant 39 obesity SNPs and 23 AD SNPs in these two large data sets revealed that: (1) The AD SNP rs10838725 (pAD = 1.1 × 10(-08)) at the locus CELF1 is also genome-wide significant for obesity (pBMI = 7.35 × 10(-09) ). (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI = 4.03 × 10(-05), pBMI corr = 2.50 × 10(-03) rs3851179 at PICALM; pBMI = 0.002, rs2075650 at TOMM40/APOE, pBMI = 0.024, rs3865444 at CD33, pBMI = 0.024). (3) SNPs at two of the obesity risk loci (rs4836133 downstream of ZNF608; pAD = 0.002 and at rs713586 downstream of RBJ/DNAJC27; pAD = 0.018) were nominally associated with AD risk. Additionally, among the SNPs used for confirmation in both studies the AD risk allele of rs1858973, with an AD association just below genome-wide significance (pAD = 7.20 × 10(-07)), was also associated with obesity (SNP at IQCK/GPRC5B; pBMI = 5.21 × 10(-06) pcorr = 3.24 × 10(-04)). Our first GWAS based cross-disorder analysis for AD and obesity suggests that rs10838725 at the locus CELF1 might be relevant for both disorders.
MeSH term(s)	Alleles ; Alzheimer Disease/genetics ; Body Mass Index ; CELF1 Protein ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Obesity/genetics ; Polymorphism, Single Nucleotide/genetics ; RNA-Binding Proteins/genetics ; Risk Factors
Chemical Substances	CELF1 Protein ; CELF1 protein, human ; RNA-Binding Proteins
Language	English
Publishing date	2014-05-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108616-3
ISSN	1552-485X ; 1552-4841 ; 0148-7299
ISSN (online)	1552-485X
ISSN	1552-4841 ; 0148-7299
DOI	10.1002/ajmg.b.32234
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Article ; Online: A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

Chapman, Jade / Rees, Elliott / Harold, Denise / Ivanov, Dobril / Gerrish, Amy / Sims, Rebecca / Hollingworth, Paul / Stretton, Alexandra / Holmans, Peter / Owen, Michael J / O'Donovan, Michael C / Williams, Julie / Kirov, George

Human molecular genetics

2012 Volume 22, Issue 4, Page(s) 816–824

Abstract: We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for ... ...

Abstract	We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). We did not observe a significant excess of rare CNVs in cases, although we did identify duplications overlapping APP and CR1 which may be pathogenic. We looked for an excess of CNVs in loci which have been highlighted in previous AD CNV studies, but did not replicate previous findings. Through pathway analyses, we observed suggestive evidence for biological overlap between single nucleotide polymorphisms and CNVs in AD susceptibility. We also identified that our sample of elderly controls harbours significantly fewer deletions >1 Mb than younger control sets in previous CNV studies on schizophrenia and bipolar disorder (P = 8.9 × 10(-4) and 0.024, respectively), raising the possibility that healthy elderly individuals have a reduced rate of large deletions. Thus, in contrast to diseases such as schizophrenia, autism and attention deficit/hyperactivity disorder, CNVs do not appear to make a significant contribution to the development of AD.
MeSH term(s)	Aged ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Case-Control Studies ; DNA Copy Number Variations ; Gene Duplication ; Genetic Loci ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Receptors, Complement 3b/genetics ; Risk Factors
Chemical Substances	Amyloid beta-Protein Precursor ; CR1 protein, human ; Receptors, Complement 3b
Language	English
Publishing date	2012-11-11
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/dds476
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Zs.A 3469: Show issues

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Article ; Online: Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Pagnamenta, Alistair T / Bacchelli, Elena / de Jonge, Maretha V / Mirza, Ghazala / Scerri, Thomas S / Minopoli, Fiorella / Chiocchetti, Andreas / Ludwig, Kerstin U / Hoffmann, Per / Paracchini, Silvia / Lowy, Ernesto / Harold, Denise H / Chapman, Jade A / Klauck, Sabine M / Poustka, Fritz / Houben, Renske H / Staal, Wouter G / Ophoff, Roel A / O'Donovan, Michael C /

Williams, Julie / Nöthen, Markus M / Schulte-Körne, Gerd / Deloukas, Panos / Ragoussis, Jiannis / Bailey, Anthony J / Maestrini, Elena / Monaco, Anthony P

Biological psychiatry

2010 Volume 68, Issue 4, Page(s) 320–328

Abstract: Background: Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a ... ...

Abstract	Background: Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair. Methods: The DOCK4 microdeletion on 7q31.1 was further characterized in this family using QuantiSNP analysis of 1M SNP array data and reverse transcription polymerase chain reaction. Extended family members were tested by polymerase chain reaction amplification of junction fragments. DOCK4 dosage was measured in additional samples using SNP arrays. Since QuantiSNP analysis identified a novel CNTNAP5 microdeletion in the same affected sibling pair, this gene was sequenced in 143 additional ASD families. Further polymerase chain reaction-restriction fragment length polymorphism analysis included 380 ASD cases and suitable control subjects. Results: The maternally inherited microdeletion encompassed chr7:110,663,978-111,257,682 and led to a DOCK4-IMMP2L fusion transcript. It was also detected in five extended family members with no ASD. However, six of nine individuals with this microdeletion had poor reading ability, which prompted us to screen 606 other dyslexia cases. This led to the identification of a second DOCK4 microdeletion co-segregating with dyslexia. Assessment of genomic background in the original ASD family detected a paternal 2q14.3 microdeletion disrupting CNTNAP5 that was also transmitted to both affected siblings. Analysis of other ASD cohorts revealed four additional rare missense changes in CNTNAP5. No exonic deletions of DOCK4 or CNTNAP5 were seen in 2091 control subjects. Conclusions: This study highlights two new risk factors for ASD and dyslexia and demonstrates the importance of performing a high-resolution assessment of genomic background, even after detection of a rare and likely damaging microdeletion using a targeted approach.
MeSH term(s)	Adult ; Case-Control Studies ; Cell Adhesion Molecules, Neuronal/genetics ; Child ; Child Development Disorders, Pervasive/genetics ; Child, Preschool ; DNA/analysis ; Dyslexia/genetics ; Female ; GTPase-Activating Proteins/genetics ; Gene Expression Regulation ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Reference Values ; Sequence Deletion ; Severity of Illness Index ; Transcription, Genetic
Chemical Substances	CNTNAP5 protein, human ; Cell Adhesion Molecules, Neuronal ; DOCK4 protein, human ; GTPase-Activating Proteins ; DNA (9007-49-2)
Language	English
Publishing date	2010-03-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2010.02.002
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Article ; Online: No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.

Sims, Rebecca / Dwyer, Sarah / Harold, Denise / Gerrish, Amy / Hollingworth, Paul / Chapman, Jade / Jones, Nicola / Abraham, Richard / Ivanov, Dobril / Pahwa, Jaspreet Singh / Moskvina, Valentina / Dowzell, Kimberley / Thomas, Charlene / Stretton, Alexandra / Lovestone, Simon / Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol /

Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuiness, Bernadette / Todd, Stephen / Johnston, Janet A / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Hardy, John / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Jones, Lesley / Holmans, Peter A / O'Donovan, Michael / Owen, Michael J / Williams, Julie

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

2011 Volume 156B, Issue 7, Page(s) 764–771

Abstract: We sought to investigate the contribution of extended runs of homozygosity in a genome-wide association dataset of 1,955 Alzheimer's disease cases and 955 elderly screened controls genotyped for 529,205 autosomal single nucleotide polymorphisms. Tracts ... ...

Abstract	We sought to investigate the contribution of extended runs of homozygosity in a genome-wide association dataset of 1,955 Alzheimer's disease cases and 955 elderly screened controls genotyped for 529,205 autosomal single nucleotide polymorphisms. Tracts of homozygosity may mark regions inherited from a common ancestor and could reflect disease loci if observed more frequently in cases than controls. We found no excess of homozygous tracts in Alzheimer's disease cases compared to controls and no individual run of homozygosity showed association to Alzheimer's disease.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Case-Control Studies ; Chromosomes, Human, Pair 8/genetics ; Female ; Genes/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Homozygote ; Humans ; Male
Language	English
Publishing date	2011-08-02
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108616-3
ISSN	1552-485X ; 1552-4841 ; 0148-7299
ISSN (online)	1552-485X
ISSN	1552-4841 ; 0148-7299
DOI	10.1002/ajmg.b.31216
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Article ; Online: The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

Gerrish, Amy / Russo, Giancarlo / Richards, Alexander / Moskvina, Valentina / Ivanov, Dobril / Harold, Denise / Sims, Rebecca / Abraham, Richard / Hollingworth, Paul / Chapman, Jade / Hamshere, Marian / Pahwa, Jaspreet Singh / Dowzell, Kimberley / Williams, Amy / Jones, Nicola / Thomas, Charlene / Stretton, Alexandra / Morgan, Angharad R / Lovestone, Simon /

Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol / Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Johnston, Janet A / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Hardy, John / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Kölsch, Heike / Heun, Reinhard / Schürmann, Britta / van den Bussche, Hendrik / Heuser, Isabella / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Hüll, Michael / Rujescu, Dan / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panagiotis / Davies, Gail / Harris, Sarah E / Starr, John M / Deary, Ian J / Al-Chalabi, Ammar / Shaw, Christopher E / Tsolaki, Magda / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Carrasquillo, Minerva M / Pankratz, V Shane / Younkin, Steven G / Jones, Lesley / Holmans, Peter A / O'Donovan, Michael C / Owen, Michael J / Williams, Julie

Journal of Alzheimer's disease : JAD

2011 Volume 28, Issue 2, Page(s) 377–387

Abstract: Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), and common variants in MAPT are associated with risk of other neurodegenerative disorders. We sought to establish whether common genetic variation in ... ...

Abstract	Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), and common variants in MAPT are associated with risk of other neurodegenerative disorders. We sought to establish whether common genetic variation in these genes confer risk to the common form of AD which occurs later in life (>65 years). We therefore tested single-nucleotide polymorphisms at these loci for association with late-onset AD (LOAD) in a large case-control sample consisting of 3,940 cases and 13,373 controls. Single-marker analysis did not identify any variants that reached genome-wide significance, a result which is supported by other recent genome-wide association studies. However, we did observe a significant association at the MAPT locus using a gene-wide approach (p = 0.009). We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration. In summary common variants at AβPP, PSEN1, and PSEN2 and MAPT are unlikely to make strong contributions to susceptibility for LOAD. However, the gene-wide effect observed at MAPT indicates a possible contribution to disease risk which requires further study.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Meta-Analysis as Topic ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Presenilin-1/genetics ; Presenilin-2/genetics ; tau Proteins/genetics
Chemical Substances	Amyloid beta-Protein Precursor ; MAPT protein, human ; PSEN1 protein, human ; Presenilin-1 ; Presenilin-2 ; tau Proteins
Language	English
Publishing date	2011-10-19
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-2011-110824
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Article ; Online: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Hollingworth, Paul / Harold, Denise / Sims, Rebecca / Gerrish, Amy / Lambert, Jean-Charles / Carrasquillo, Minerva M / Abraham, Richard / Hamshere, Marian L / Pahwa, Jaspreet Singh / Moskvina, Valentina / Dowzell, Kimberley / Jones, Nicola / Stretton, Alexandra / Thomas, Charlene / Richards, Alex / Ivanov, Dobril / Widdowson, Caroline / Chapman, Jade / Lovestone, Simon /

Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol / Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Holmes, Clive / Mann, David / Smith, A David / Beaumont, Helen / Warden, Donald / Wilcock, Gordon / Love, Seth / Kehoe, Patrick G / Hooper, Nigel M / Vardy, Emma R L C / Hardy, John / Mead, Simon / Fox, Nick C / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Rüther, Eckart / Schürmann, Britta / Heun, Reiner / Kölsch, Heike / van den Bussche, Hendrik / Heuser, Isabella / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Gallacher, John / Hüll, Michael / Rujescu, Dan / Giegling, Ina / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Sleegers, Kristel / Bettens, Karolien / Engelborghs, Sebastiaan / De Deyn, Peter P / Van Broeckhoven, Christine / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panagiotis / Al-Chalabi, Ammar / Shaw, Christopher E / Tsolaki, Magda / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Pankratz, V Shane / Sando, Sigrid B / Aasly, Jan O / Barcikowska, Maria / Wszolek, Zbigniew K / Dickson, Dennis W / Graff-Radford, Neill R / Petersen, Ronald C / van Duijn, Cornelia M / Breteler, Monique M B / Ikram, M Arfan / DeStefano, Anita L / Fitzpatrick, Annette L / Lopez, Oscar / Launer, Lenore J / Seshadri, Sudha / Berr, Claudine / Campion, Dominique / Epelbaum, Jacques / Dartigues, Jean-François / Tzourio, Christophe / Alpérovitch, Annick / Lathrop, Mark / Feulner, Thomas M / Friedrich, Patricia / Riehle, Caterina / Krawczak, Michael / Schreiber, Stefan / Mayhaus, Manuel / Nicolhaus, S / Wagenpfeil, Stefan / Steinberg, Stacy / Stefansson, Hreinn / Stefansson, Kari / Snaedal, Jon / Björnsson, Sigurbjörn / Jonsson, Palmi V / Chouraki, Vincent / Genier-Boley, Benjamin / Hiltunen, Mikko / Soininen, Hilkka / Combarros, Onofre / Zelenika, Diana / Delepine, Marc / Bullido, Maria J / Pasquier, Florence / Mateo, Ignacio / Frank-Garcia, Ana / Porcellini, Elisa / Hanon, Olivier / Coto, Eliecer / Alvarez, Victoria / Bosco, Paolo / Siciliano, Gabriele / Mancuso, Michelangelo / Panza, Francesco / Solfrizzi, Vincenzo / Nacmias, Benedetta / Sorbi, Sandro / Bossù, Paola / Piccardi, Paola / Arosio, Beatrice / Annoni, Giorgio / Seripa, Davide / Pilotto, Alberto / Scarpini, Elio / Galimberti, Daniela / Brice, Alexis / Hannequin, Didier / Licastro, Federico / Jones, Lesley / Holmans, Peter A / Jonsson, Thorlakur / Riemenschneider, Matthias / Morgan, Kevin / Younkin, Steven G / Owen, Michael J / O'Donovan, Michael / Amouyel, Philippe / Williams, Julie

Nature genetics

2011 Volume 43, Issue 5, Page(s) 429–435

Abstract: We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined ... ...

Abstract	We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)).
MeSH term(s)	ATP-Binding Cassette Transporters/genetics ; Adaptor Proteins, Signal Transducing/genetics ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Antigens, CD/genetics ; Antigens, Differentiation, Myelomonocytic/genetics ; Case-Control Studies ; Cytoskeletal Proteins/genetics ; Databases, Genetic ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Male ; Membrane Proteins/genetics ; Multigene Family ; Polymorphism, Single Nucleotide ; Receptor, EphA1/genetics ; Sialic Acid Binding Ig-like Lectin 3
Chemical Substances	ABCA7 protein, human ; ATP-Binding Cassette Transporters ; Adaptor Proteins, Signal Transducing ; Antigens, CD ; Antigens, Differentiation, Myelomonocytic ; CD2-associated protein ; CD33 protein, human ; Cytoskeletal Proteins ; MS4A4E protein, human ; Membrane Proteins ; Sialic Acid Binding Ig-like Lectin 3 ; Receptor, EphA1 (EC 2.7.10.1)
Language	English
Publishing date	2011-04-03
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; 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/ng.803
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Article ; Online: Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Sims, Rebecca / van der Lee, Sven J / Naj, Adam C / Bellenguez, Céline / Badarinarayan, Nandini / Jakobsdottir, Johanna / Kunkle, Brian W / Boland, Anne / Raybould, Rachel / Bis, Joshua C / Martin, Eden R / Grenier-Boley, Benjamin / Heilmann-Heimbach, Stefanie / Chouraki, Vincent / Kuzma, Amanda B / Sleegers, Kristel / Vronskaya, Maria / Ruiz, Agustin / Graham, Robert R /

Olaso, Robert / Hoffmann, Per / Grove, Megan L / Vardarajan, Badri N / Hiltunen, Mikko / Nöthen, Markus M / White, Charles C / Hamilton-Nelson, Kara L / Epelbaum, Jacques / Maier, Wolfgang / Choi, Seung-Hoan / Beecham, Gary W / Dulary, Cécile / Herms, Stefan / Smith, Albert V / Funk, Cory C / Derbois, Céline / Forstner, Andreas J / Ahmad, Shahzad / Li, Hongdong / Bacq, Delphine / Harold, Denise / Satizabal, Claudia L / Valladares, Otto / Squassina, Alessio / Thomas, Rhodri / Brody, Jennifer A / Qu, Liming / Sánchez-Juan, Pascual / Morgan, Taniesha / Wolters, Frank J / Zhao, Yi / Garcia, Florentino Sanchez / Denning, Nicola / Fornage, Myriam / Malamon, John / Naranjo, Maria Candida Deniz / Majounie, Elisa / Mosley, Thomas H / Dombroski, Beth / Wallon, David / Lupton, Michelle K / Dupuis, Josée / Whitehead, Patrice / Fratiglioni, Laura / Medway, Christopher / Jian, Xueqiu / Mukherjee, Shubhabrata / Keller, Lina / Brown, Kristelle / Lin, Honghuang / Cantwell, Laura B / Panza, Francesco / McGuinness, Bernadette / Moreno-Grau, Sonia / Burgess, Jeremy D / Solfrizzi, Vincenzo / Proitsi, Petra / Adams, Hieab H / Allen, Mariet / Seripa, Davide / Pastor, Pau / Cupples, L Adrienne / Price, Nathan D / Hannequin, Didier / Frank-García, Ana / Levy, Daniel / Chakrabarty, Paramita / Caffarra, Paolo / Giegling, Ina / Beiser, Alexa S / Giedraitis, Vilmantas / Hampel, Harald / Garcia, Melissa E / Wang, Xue / Lannfelt, Lars / Mecocci, Patrizia / Eiriksdottir, Gudny / Crane, Paul K / Pasquier, Florence / Boccardi, Virginia / Henández, Isabel / Barber, Robert C / Scherer, Martin / Tarraga, Lluis / Adams, Perrie M / Leber, Markus / Chen, Yuning / Albert, Marilyn S / Riedel-Heller, Steffi / Emilsson, Valur / Beekly, Duane / Braae, Anne / Schmidt, Reinhold / Blacker, Deborah / Masullo, Carlo / Schmidt, Helena / Doody, Rachelle S / Spalletta, Gianfranco / Longstreth, W T / Fairchild, Thomas J / Bossù, Paola / Lopez, Oscar L / Frosch, Matthew P / Sacchinelli, Eleonora / Ghetti, Bernardino / Yang, Qiong / Huebinger, Ryan M / Jessen, Frank / Li, Shuo / Kamboh, M Ilyas / Morris, John / Sotolongo-Grau, Oscar / Katz, Mindy J / Corcoran, Chris / Dunstan, Melanie / Braddel, Amy / Thomas, Charlene / Meggy, Alun / Marshall, Rachel / Gerrish, Amy / Chapman, Jade / Aguilar, Miquel / Taylor, Sarah / Hill, Matt / Fairén, Mònica Díez / Hodges, Angela / Vellas, Bruno / Soininen, Hilkka / Kloszewska, Iwona / Daniilidou, Makrina / Uphill, James / Patel, Yogen / Hughes, Joseph T / Lord, Jenny / Turton, James / Hartmann, Annette M / Cecchetti, Roberta / Fenoglio, Chiara / Serpente, Maria / Arcaro, Marina / Caltagirone, Carlo / Orfei, Maria Donata / Ciaramella, Antonio / Pichler, Sabrina / Mayhaus, Manuel / Gu, Wei / Lleó, Alberto / Fortea, Juan / Blesa, Rafael / Barber, Imelda S / Brookes, Keeley / Cupidi, Chiara / Maletta, Raffaele Giovanni / Carrell, David / Sorbi, Sandro / Moebus, Susanne / Urbano, Maria / Pilotto, Alberto / Kornhuber, Johannes / Bosco, Paolo / Todd, Stephen / Craig, David / Johnston, Janet / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Fox, Nick C / Hardy, John / Albin, Roger L / Apostolova, Liana G / Arnold, Steven E / Asthana, Sanjay / Atwood, Craig S / Baldwin, Clinton T / Barnes, Lisa L / Barral, Sandra / Beach, Thomas G / Becker, James T / Bigio, Eileen H / Bird, Thomas D / Boeve, Bradley F / Bowen, James D / Boxer, Adam / Burke, James R / Burns, Jeffrey M / Buxbaum, Joseph D / Cairns, Nigel J / Cao, Chuanhai / Carlson, Chris S / Carlsson, Cynthia M / Carney, Regina M / Carrasquillo, Minerva M / Carroll, Steven L / Diaz, Carolina Ceballos / Chui, Helena C / Clark, David G / Cribbs, David H / Crocco, Elizabeth A / DeCarli, Charles / Dick, Malcolm / Duara, Ranjan / Evans, Denis A / Faber, Kelley M / Fallon, Kenneth B / Fardo, David W / Farlow, Martin R / Ferris, Steven / Foroud, Tatiana M / Galasko, Douglas R / Gearing, Marla / Geschwind, Daniel H / Gilbert, John R / Graff-Radford, Neill R / Green, Robert C / Growdon, John H / Hamilton, Ronald L / Harrell, Lindy E / Honig, Lawrence S / Huentelman, Matthew J / Hulette, Christine M / Hyman, Bradley T / Jarvik, Gail P / Abner, Erin / Jin, Lee-Way / Jun, Gyungah / Karydas, Anna / Kaye, Jeffrey A / Kim, Ronald / Kowall, Neil W / Kramer, Joel H / LaFerla, Frank M / Lah, James J / Leverenz, James B / Levey, Allan I / Li, Ge / Lieberman, Andrew P / Lunetta, Kathryn L / Lyketsos, Constantine G / Marson, Daniel C / Martiniuk, Frank / Mash, Deborah C / Masliah, Eliezer / McCormick, Wayne C / McCurry, Susan M / McDavid, Andrew N / McKee, Ann C / Mesulam, Marsel / Miller, Bruce L / Miller, Carol A / Miller, Joshua W / Morris, John C / Murrell, Jill R / Myers, Amanda J / O'Bryant, Sid / Olichney, John M / Pankratz, Vernon S / Parisi, Joseph E / Paulson, Henry L / Perry, William / Peskind, Elaine / Pierce, Aimee / Poon, Wayne W / Potter, Huntington / Quinn, Joseph F / Raj, Ashok / Raskind, Murray / Reisberg, Barry / Reitz, Christiane / Ringman, John M / Roberson, Erik D / Rogaeva, Ekaterina / Rosen, Howard J / Rosenberg, Roger N / Sager, Mark A / Saykin, Andrew J / Schneider, Julie A / Schneider, Lon S / Seeley, William W / Smith, Amanda G / Sonnen, Joshua A / Spina, Salvatore / Stern, Robert A / Swerdlow, Russell H / Tanzi, Rudolph E / Thornton-Wells, Tricia A / Trojanowski, John Q / Troncoso, Juan C / Van Deerlin, Vivianna M / Van Eldik, Linda J / Vinters, Harry V / Vonsattel, Jean Paul / Weintraub, Sandra / Welsh-Bohmer, Kathleen A / Wilhelmsen, Kirk C / Williamson, Jennifer / Wingo, Thomas S / Woltjer, Randall L / Wright, Clinton B / Yu, Chang-En / Yu, Lei / Garzia, Fabienne / Golamaully, Feroze / Septier, Gislain / Engelborghs, Sebastien / Vandenberghe, Rik / De Deyn, Peter P / Fernadez, Carmen Muñoz / Benito, Yoland Aladro / Thonberg, Hakan / Forsell, Charlotte / Lilius, Lena / Kinhult-Stählbom, Anne / Kilander, Lena / Brundin, RoseMarie / Concari, Letizia / Helisalmi, Seppo / Koivisto, Anne Maria / Haapasalo, Annakaisa / Dermecourt, Vincent / Fievet, Nathalie / Hanon, Olivier / Dufouil, Carole / Brice, Alexis / Ritchie, Karen / Dubois, Bruno / Himali, Jayanadra J / Keene, C Dirk / Tschanz, JoAnn / Fitzpatrick, Annette L / Kukull, Walter A / Norton, Maria / Aspelund, Thor / Larson, Eric B / Munger, Ron / Rotter, Jerome I / Lipton, Richard B / Bullido, María J / Hofman, Albert / Montine, Thomas J / Coto, Eliecer / Boerwinkle, Eric / Petersen, Ronald C / Alvarez, Victoria / Rivadeneira, Fernando / Reiman, Eric M / Gallo, Maura / O'Donnell, Christopher J / Reisch, Joan S / Bruni, Amalia Cecilia / Royall, Donald R / Dichgans, Martin / Sano, Mary / Galimberti, Daniela / St George-Hyslop, Peter / Scarpini, Elio / Tsuang, Debby W / Mancuso, Michelangelo / Bonuccelli, Ubaldo / Winslow, Ashley R / Daniele, Antonio / Wu, Chuang-Kuo / Peters, Oliver / Nacmias, Benedetta / Riemenschneider, Matthias / Heun, Reinhard / Brayne, Carol / Rubinsztein, David C / Bras, Jose / Guerreiro, Rita / Al-Chalabi, Ammar / Shaw, Christopher E / Collinge, John / Mann, David / Tsolaki, Magda / Clarimón, Jordi / Sussams, Rebecca / Lovestone, Simon / O'Donovan, Michael C / Owen, Michael J / Behrens, Timothy W / Mead, Simon / Goate, Alison M / Uitterlinden, Andre G / Holmes, Clive / Cruchaga, Carlos / Ingelsson, Martin / Bennett, David A / Powell, John / Golde, Todd E / Graff, Caroline / De Jager, Philip L / Morgan, Kevin / Ertekin-Taner, Nilufer / Combarros, Onofre / Psaty, Bruce M / Passmore, Peter / Younkin, Steven G / Berr, Claudine / Gudnason, Vilmundur / Rujescu, Dan / Dickson, Dennis W / Dartigues, Jean-François / DeStefano, Anita L / Ortega-Cubero, Sara / Hakonarson, Hakon / Campion, Dominique / Boada, Merce / Kauwe, John Keoni / Farrer, Lindsay A / Van Broeckhoven, Christine / Ikram, M Arfan / Jones, Lesley / Haines, Jonathan L / Tzourio, Christophe / Launer, Lenore J / Escott-Price, Valentina / Mayeux, Richard / Deleuze, Jean-François / Amin, Najaf / Holmans, Peter A / Pericak-Vance, Margaret A / Amouyel, Philippe / van Duijn, Cornelia M / Ramirez, Alfredo / Wang, Li-San / Lambert, Jean-Charles / Seshadri, Sudha / Williams, Julie / Schellenberg, Gerard D

Nature genetics

2017 Volume 49, Issue 9, Page(s) 1373–1384

Abstract: We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × ... ...

Abstract	We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Amino Acid Sequence ; Case-Control Studies ; Exome/genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Immunity, Innate/genetics ; Linkage Disequilibrium ; Membrane Glycoproteins/genetics ; Microglia/metabolism ; Odds Ratio ; Phospholipase C gamma/genetics ; Polymorphism, Single Nucleotide ; Protein Interaction Maps/genetics ; Receptors, Immunologic/genetics ; Sequence Homology, Amino Acid
Chemical Substances	ABI3 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human ; Phospholipase C gamma (EC 3.1.4.3)
Language	English
Publishing date	2017-07-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.3916
Database	MEDical Literature Analysis and Retrieval System OnLINE

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