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1. Human chromosomes
by Makino, Sajirō, 1906
1975, xxi, 600
Cytogenetics | Human chromosomes | Human genetics
Book
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2. Full Text Characterization of Large Structural Genetic Mosaicism in Human Autosomes
by Machiela, Mitchell J and Zhou, Weiyin and Zhou, Baosen and Sampson, Joshua N and Dean, Michael C and Jacobs, Kevin B and Black, Amanda and Brinton, Louise A and Chang, I-Shou and Chen, Constance and Chen, Chu and Chen, Kexin and Cook, Linda S and Cook, Michael B and Crous Bou, Marta and De Vivo, Immaculata and Doherty, Jennifer and Friedenreich, Christine M and Gaudet, Mia M and Haiman, Christopher A and Hankinson, Susan E and Hartge, Patricia and Henderson, Brian E and Hong, Yun-Chul and Hosgood, H. Dean and Hsiung, Chao A and Hu, Wei and Hu, Nan and Hunter, David J and Jessop, Lea and Kim, Hee Nam and Kim, Young Tae and Kim, Yeul Hong and Klein, Robert and Kraft, Peter and Lan, Qing and Lin, Dongxin and Liu, Jianjun and Le Marchand, Loic and Liang, Xiaolin and Lissowska, Jolanta and Lu, Lingeng and Magliocco, Anthony M and Matsuo, Keitaro and Olson, Sara H and Orlow, Irene and Park, Jae Yong and Pooler, Loreall and Prescott, Jennifer and Rastogi, Radhai and Risch, Harvey A and Schumacher, Fredrick and Seow, Adeline and Setiawan, Veronica Wendy and Shen, Hongbing and Sheng, Xin and Shin, Min-Ho and Shu, Xiao-Ou and VanDen Berg, David and Wang, Zhaoming and Wang, Jiu-Cun and Wentzensen, Nicolas and Wong, Maria Pik and Wu, Tangchun and Wu, Xifeng and Wu, Chen and Wu, Yi-Long and Xia, Lucy and Yang, Hannah P and Yang, Pan-Chyr and Zheng, Wei and Abnet, Christian C and Albanes, Demetrius and Aldrich, Melinda C and Amos, Christopher and Amundadottir, Laufey T and Berndt, Sonja I and Blot, William J and Bock, Cathryn H and Bracci, Paige M and Burdett, Laurie and Buring, Julie E and Butler, Mary A and Carreón, Tania and Chatterjee, Nilanjan and Chung, Charles C and Cullen, Michael and Davis, Faith G and Ding, Ti and Duell, Eric J and Epstein, Caroline G and Fan, Jin-Hu and Figueroa, Jonine D and Fraumeni, Joseph F and Freedman, Neal D and Fuchs, Charles S and Gao, Yu-Tang and Gapstur, Susan M and Patiño-Garcia, Ana and Garcia-Closas, Montserrat and ... and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Näringsforskning and Onkologi
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 487 - 497
Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations... 
MAFFUCCI SYNDROME | OLLIER DISEASE | COPY-NUMBER-VARIATION | CELLS | HUMAN GENOME | GENETICS & HEREDITY | MUTATIONS | SOMATIC MOSAICISM | IDENTIFICATION | DETECTABLE CLONAL MOSAICISM | CANCER | Genome-Wide Association Study | Neoplasms - genetics | Humans | Middle Aged | Chromosome Aberrations | Female | Genotype | Male | Mosaicism | Aged | Genome, Human | Physiological aspects | Genome-wide association studies | Research | Gene mutations | Cromosomes humans | Genoma humà | Report | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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3. Full Text Prevalent Sequences in the Human Genome Can Form Mini i-Motif Structures at Physiological pH
by Mir, Bartomeu and Serrano, Israel and Buitrago, Diana and Orozco, Modesto and Escaja, Núria and González, Carlos
Journal of the American Chemical Society, ISSN 0002-7863, 10/2017, Volume 139, Issue 40, pp. 13985 - 13988
We report here the solution structure of several repetitive DNA sequences containing d(TCGT-TCCGT) and related repeats. At physiological pH, these sequences... 
4-STRANDED DNA STRUCTURES | MUTAGENESIS | BASE-PAIRS | STABILITY | NEUTRAL PH | GENE-EXPRESSION | A-T | G-C TETRADS | IDENTIFICATION | CHEMISTRY, MULTIDISCIPLINARY | CONFORMATIONS | Proteins | Research | Human genome | Nucleotide sequence | Structure | Cromosomes humans | Oligonucleòtids | Genètica humana | Human chromosomes | Human genetics | Oligonucleotides
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4. Full Text Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
by Cáceres, Alejandro and Esko, Tõnu and Pappa, Irene and Gutiérrez Arumi, Armand, 1980 and Lopez-Espinosa, Maria-José and Llop, Sabrina and Bustamante Pineda, Mariona and Tiemeier, Henning and Metspalu, Andres and Joshi, Peter K and Wilsonx, James F and Reina-Castillón, Judith and Shin, Jean and Pausova, Zdenka and Paus, Tomáš and Sunyer Deu, Jordi and Pérez Jurado, Luis Alberto and González Ruiz, Juan Ramón
ISSN 1932-6203, 2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and... 
Cromosomes humans | Infants | Desenvolupament | Anomalies
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5. Full Text Differential preservation of endogenous human and microbial DNA in dental calculus and dentin
by Mann, Allison E and Sabin, Susanna and Ziesemer, Kirsten and Vågene, Åshild J and Schroeder, Hannes and Ozga, Andrew T and Sankaranarayanan, Krithivasan and Hofman, Courtney A and Fellows Yates, James A and Salazar-García, Domingo C and Frohlich, Bruno and Aldenderfer, Mark and Hoogland, Menno and Read, Christopher and Milner, George R and Stone, Anne C and Lewis, Cecil M and Krause, Johannes and Hofman, Corinne and Bos, Kirsten I and Warinner, Christina
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 9822 - 15
Dental calculus (calcified dental plaque) is prevalent in archaeological skeletal collections and is a rich source of oral microbiome and host-derived ancient... 
PHYTOLITHS | MICROFOSSILS | IMMUNITY | NEUTROPHIL EXTRACELLULAR TRAPS | STABILITY | MULTIDISCIPLINARY SCIENCES | ORAL MICROBIOTA | ANCIENT DNA | FRAMEWORK | PLAQUE | CONSUMPTION | Dentin | Dental calculus | Data collections | Preservation | DNA fragmentation | Microbiomes | Dental plaque | Cytosine | Genomes | Deoxyribonucleic acid--DNA | Guanine
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6. Diagnostic recognition of genetic disease
by Nyhan, William L., 1926 and Sakati, Nadia O
1987, ISBN 0812110722, xii, 754
Human chromosome abnormalities | Abnormalities, Human | Diagnosis | Hereditary Diseases | Medical genetics
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7. Full Text Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
by Gaudet, Mia M and Kuchenbaecker, Karoline B and Vijai, Joseph and Klein, Robert J and Kirchhoff, Tomas and McGuffog, Lesley and Barrowdale, Daniel and Dunning, Alison M and Lee, Anew and Dennis, Joe and Healey, Sue and Dicks, Ed and Soucy, Penny and Sinilnikova, Olga M and Pankratz, Vernon S and Wang, Xianshu and Elidge, Ronald C and Tessier, Daniel C and Vincent, Daniel and Bacot, Francois and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Peterlongo, Paolo and Schmutzler, Rita K and Nathanson, Katherine L and Piedmonte, Marion and Singer, Christian F and Thomassen, Mads and Hansen, Thomas v O and Neuhausen, Susan L and Blanco, Ignacio and Greene, Mark H and Garber, Judith and Weitzel, Jeffrey N and Anulis, Irene L and Goldgar, David E and D'Anea, Emma and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and van Rensburg, Elizabeth J and Arason, Adalgeir and Rennert, Gad and van den Ouweland, Ans M. W and van der Hout, Annemarie H and Kets, Carolien M and Aalfs, Cora M and Wijnen, Juul T and Ausems, Margreet G. E. M and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Jacobs, Chris and Adlard, Julian and Tischkowitz, Marc and Porteous, Mary E and Damiola, Francesca and Golmard, Lisa and Barjhoux, Laure and Longy, Michel and Belotti, Muriel and Ferrer, Sana Fert and Mazoyer, Sylvie and Spurdle, Amanda B and Manoukian, Siranoush and Barile, Monica and Genuardi, Maurizio and Arnold, Norbert and Meindl, Alfons and Sutter, Christian and Wappenschmidt, Barbara and Domchek, Susan M and Pfeiler, Georg and Friedman, Eitan and Jensen, Uffe Birk and Robson, Mark and Shah, Sohela and Lazaro, Conxi and Mai, Phuong L and Benitez, Javier and Southey, Melissa C and Schmidt, Marjanka K and Fasching, Peter A and Peto, Julian and Humphreys, Manjeet K and Wang, Qin and Michailidou, Kyriaki and Sawyer, Elinor J and Burwinkel, Barbara and Guénel, Pascal and Bojesen, Stig E and Milne, Roger L and Brenner, Hermann and Lochmann, Magdalena and Aittomäki, Kristiina and Dörk, Thilo and Margolin, Sara and ... and KConFab Investigators and Ontario Canc Genetics Network and HEBON and EMBRACE and GEMO Study Collaborators and GENICA Network and Ontario Cancer Genetics Network and The GENICA Network
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003173
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through... 
BRCA2 MUTATION CARRIERS | CONSORTIUM | COMMON VARIANTS | POPULATION | SUBTYPES | SUSCEPTIBILITY ALLELES | GENETICS & HEREDITY | OVARIAN-CANCER | TRANSCRIPTION FACTOR AP-2 | GENOME-WIDE ASSOCIATION | ZNF365 | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Middle Aged | Risk Factors | Genotype | Chromosomes, Human, Pair 6 - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Alleles | Adult | Female | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Gene mutations | Genetic variation | Physiological aspects | Breast cancer | Genetic aspects | Research | Risk factors | Cancer | Human genome | Càncer de mama | Cromosomes humans | Malalties hereditàries | Human chromosomes | Genetic diseases | Genoma humà | Medical research | Womens health
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8. Full Text Mosaic loss of chromosome Y is associated with common variation near TCL1A
by Zhou, Weiyin and Machiela, Mitchell J and Freedman, Neal D and Rothman, Nathaniel and Malats, Nuria and Dagnall, Casey and Caporaso, Neil and Teras, Lauren T and Gaudet, Mia M and Gapstur, Susan M and Stevens, Victoria L and Jacobs, Kevin B and Sampson, Joshua and Albanes, Demetrius and Weinstein, Stephanie and Virtamo, Jarmo and Berndt, Sonja and Hoover, Robert N and Black, Amanda and Silverman, Debra and Figueroa, Jonine and Garcia-Closas, Montserrat and Real, Francisco X and Earl, Julie and Marenne, Gaelle and Rodriguez-Santiago, Benjamin and Karagas, Margaret and Johnson, Alison and Schwenn, Molly and Wu, Xifeng and Gu, Jian and Ye, Yuanqing and Hutchinson, Amy and Tucker, Margaret and Perez-Jurado, Luis A and Dean, Michael and Yeager, Meredith and Chanock, Stephen J
Nature Genetics, ISSN 1061-4036, 05/2016, Volume 48, Issue 5, pp. 563 - 568
Mosaic loss of chromosome Y (mLOY) leading to gonosomal XY/XO commonly occurs during aging, particularly in smokers. We investigated whether mLOY was... 
Chromosome Deletion | Genome-Wide Association Study | Gene Frequency | Humans | Male | Proto-Oncogene Proteins - genetics | Genetic Variation | Chromosomes, Human, Y | Regression Analysis | DNA, Neoplasm | Survival Analysis | Chromosomes, Human, Pair 14 | Mosaicism | Aged | Real-Time Polymerase Chain Reaction | Cohort Studies | Genetic aspects | Properties | Genetic variation | Carcinogenesis | Health aspects | Y chromosome | Genealogy | Hematology | Genomes | Males | Medical diagnosis | Studies | Disease prevention | Mens health | Aging | Arrays | Chromosomes | Age | Deoxyribonucleic acid--DNA | Methods | Cancer | Smoking | Cromosomes humans | Anomalies
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9. Full Text Contribution of Rare Copy Number Variants to Isolated Human Malformations
by Serra-Juhé, Clara and Rodríguez-Santiago, Benjamín and Cuscó, Ivon and Vendrell, Teresa and Camats, Núria and Torán, Núria and Pérez-Jurado, Luis A
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, p. e45530
Background: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority... 
SUBTELOMERIC REARRANGEMENTS | MICRODELETION | ARRAY-CGH | MULTIDISCIPLINARY SCIENCES | IMBALANCES | MUTATIONS | COMPARATIVE GENOMIC HYBRIDIZATION | CONGENITAL HEART-DEFECTS | IDENTIFICATION | DELETIONS | ANEUPLOIDIES | Chromosome Deletion | Fetal Diseases - genetics | Congenital Abnormalities - genetics | Comparative Genomic Hybridization | Humans | Female | Genotype | Male | Genotyping Techniques | Multiplex Polymerase Chain Reaction | Genetic Counseling | DNA Copy Number Variations | Epigenetic inheritance | Genetic disorders | Analysis | Liver | Development and progression | Birth defects | Chromosomes | Multiplexing | Heart | Brain | Deregulation | Disease | Congenital defects | Copy number | Defects | Clonal deletion | Etiology | Deletion | Deoxyribonucleic acid--DNA | Hypoplasia | Congenital diseases | Fetuses | Heredity | Gene expression | Babies | Studies | Hospitals | Genetic counseling | Lungs | Mutation | Health risk assessment | Deoxyribonucleic acid | DNA
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10. Mendelian inheritance in man
: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
by McKusick, Victor A. 1921- (Victor Almon) and Antonarakis, Stylianos E and Francomano, Clair A
1990, 9th ed. --, ISBN 9780801840418, clxxv., 2028
Human chromosome abnormalities | Human chromosomes | Bibliography | Medical genetics
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11. Mendelian inheritance in man
: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
by McKusick, Victor A
1978, 5th ed. --, ISBN 0801820871, xci, 975
Human chromosomes | Bibliography | Medical genetics
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12. Genetic testing
: care, consent, and liability
by Sharpe, Neil F
2006, 1st ed., ISBN 0471649872, xxii, 594
This is a complete review of the issues with specific recommendations and guidelines. With over 1,000 tests commercially available, genetic testing is... 
Human chromosome abnormalities | Medicine: General Issues | Life Sciences | Genetics & Genomics | SCIENCE
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13. Full Text A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
by González, Juan R and Rodríguez-Santiago, Benjamín and Cáceres, Alejandro and Pique-Regi, Roger and Rothman, Nathaniel and Chanock, Stephen J and Armengol, Lluís and Pérez-Jurado, Luis A
BMC Bioinformatics, ISSN 1471-2105, 05/2011, Volume 12, Issue 1, pp. 166 - 166
Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic... 
COPY-NUMBER-VARIATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | LOW-LEVEL MOSAICISM | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | MECHANISMS | POLYMORPHISM | SOMATIC MOSAICISM | CANCER | CGH DATA | Allelic Imbalance | Urinary Bladder Neoplasms - genetics | Oligonucleotide Array Sequence Analysis - methods | Humans | Sensitivity and Specificity | Chromosome Aberrations | Mosaicism | Polymorphism, Single Nucleotide | Genome, Human | Usage | DNA microarrays | Physiological aspects | Single nucleotide polymorphisms | Research | Identification and classification | Genetic algorithms | Mosaics | software | Data processing | Genetic diversity | Genomes | Single-nucleotide polymorphism | Chromosome rearrangements | Computer programs | Urinary bladder | genomics | copy number | Bioinformatics | Cancer | Cromosomes humans | Aparell urinari | Anomalies
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14. Mendelian inheritance in man
: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
by McKusick, Victor A
1975, 4th ed. --, ISBN 9780801815935, lxxx, 837
Human genetics | Bibliography | Heredity of disease
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15. Full Text Common variants at 12q15 and 12q24 are associated with infant head circumference
by Taal, Rob and St Pourcain, Beate and Thiering, Eelisabeth and Das, Shikta and Mook-Kanamori, Dennis and Warrington, Nicole and Kaakinen, Marika and Kreiner-Møller, Eskil and Bradfield, Jonathan and Freathy, Rachel and Geller, Frank and Guxens, Mònica and Cousminer, Diana and Kerkhof, Marjan and Timpson, Nicholas and Ikram, Arfan and Beilin, Lawrence and Bønnelykke, Klaus and Buxton, Jessica and Charoen, Pimphen and Chawes, Bo Lund Krogsgaard and Eriksson, Johan and Evans, David and Hofman, Albert and Kemp, John and Kim, Cecilia and Klopp, Norman and Lahti, Jari and Lye, Stephen and Mcmahon, George and Mentch, Frank and Müller-Nurasyid, Martina and O'Reilly, Paul and Prokopenko, Inga and Rivadeneira Ramirez, Fernando and Steegers, Eric and Sunyer, Jordi and Tiesler, Carla and Yaghootkar, Hanieh and Breteler, Monique and Debette, Stéphanie and Fornage, Myriam and Gudnason, Vilmunder and Launer, Lenore and Lugt, Aad and Mosley, Thomas and Seshai, Sudha and Smith, Albert V and Vernooij, Meike and Blakemore, Alexana and Chiavacci, Rosetta and Feenstra, Bjarke and Fernandez-Banet, Julio and Grant, Struan and Hartikainen, Anna-Liisa and Heijden, Albert and Iniguez, Carmen and Lathrop, Mark and McArdle, Wendy and Mølgaard, Anne and Newnham, John and Palmer, Lyle and Palotie, Aarno and Pouta, Anneli and Ring, Susan and Sovio, Ulla and Standl, Marie and Uitterlinden, Ané and Wichmann, Erich and Vissing, Nadja and DeCarli, Charles and Duijn, Cornelia and McCarthy, M and Koppelman, Gerard and Estivill, Xavier and Hattersley, Anew and Melbye, Mads and Bisgaard, Hans and Pennell, Craig and Widen, Elisabeth and Hakonarson, Hakon and Davey-Smith, George and Heinrich, Joachim and Jarvelin, Marjo-Riitta and Jaddoe, Vincent and Cohorts Heart Aging Res Genetic Ep and Early Genetics Lifecourse Epidemio and Early Growth Genetics EGG Consorti and Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium and Early Genetics & Lifecourse Epidemiology (EAGLE) consortium and Early Growth Genetics (EGG) Consortium and Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium and The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium and Mittuniversitetet and Institutionen för samhällsvetenskap and Fakulteten för humanvetenskap
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 532 - 538
textabstractTo identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies... 
INTELLIGENCE | PROTEIN | GENE | FETAL-GROWTH | GENETICS & HEREDITY | BRAIN-DEVELOPMENT | DISORDERS | MUTATIONS | IDENTIFICATION | GENOME-WIDE ASSOCIATION | PARKINSONS-DISEASE | Pregnancy Complications - pathology | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Meta-Analysis as Topic | Pregnancy Complications - etiology | Humans | Infant | Male | Head - growth & development | Genetic Loci | Genetic Markers | Head - pathology | Pregnancy | Polymorphism, Single Nucleotide - genetics | Female | Chromosomes, Human, Pair 12 - genetics | Head | Genetic aspects | Genetic variation | Identification and classification | Body size | Confidence intervals | Medical research | Brain | Breastfeeding & lactation | Health services | Prenatal development | Genetics | Epidemiology | Meta-analysis | Malalties | Creixement | Polimorfisme genètic | Cap | Complicacions | Cromosomes humans | Embaràs | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | article; body height; brain growth; child; chromosome 12q; chromosome 12q15; chromosome 12q24; degenerative disease; disease association; female; gene locus; genetic association; genetic variability; head circumference; human; infant; infant head circumference; male; meta analysis; Parkinson disease; preschool child; priority journal; single nucleotide polymorphism
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