Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott | M. Jarvelin | C. Gieger | F. Kronenberg | M. McCarthy | A. Valsesia | S. Scherer | R. Pfundt | J. Chrast | A. Reymond | H. Stefánsson | E. Sigurdsson | U. Thorsteinsdóttir | K. Stefánsson | B. Fernandez | C. Marshall | W. Roberts | M. Gratacós | X. Estivill | J. Beckmann | Z. Kutalik | S. Bergmann | R. Ravazzolo | H. Völzke | L. Coin | S. Antonarakis | G. Thorleifsson | T. Meitinger | A. Metspalu | T. Esko | S. Gimelli | F. Béna | G. Gimelli | P. Froguel | Yiping Shen | E. Saemundsen | O. Platt | J. Gusella | Bai-Lin Wu | H. Brunner | J. Ried | V. Mooser | K. Macdermot | L. Vallée | Ó. Gústafsson | D. Campion | C. Schurmann | H. Grabe | G. Homuth | A. Nordgren | P. Vollenweider | G. Waeber | O. Guillin | R. Touraine | A. Hartikainen | C. Wallgren‐Pettersson | S. Visvikis-Siest | M. Nauck | F. Fernández-Aranda | S. Jiménez-Murcia | J. Fernández-Real | F. Tinahones | A. Blakemore | C. Rooryck | N. Beckmann | G. Merla | L. Pasquier | L. Bernardini | D. Bonneau | R. Kooy | D. Stavropoulos | B. Faas | L. Faivre | P. Jonveaux | C. Richart | A. Reis | A. Rauch | N. Knoers | S. Jacquemont | R. Witwicki | L. Forer | A. Renieri | J. Hoyer | B. Isidor | M. Mucciolo | J. Andrieux | B. Delobel | F. Fellmann | A. Bottani | A. V. Silfhout | N. Ndiaye | A. Kurg | E. Lapi | F. Morice‐Picard | B. Arveiler | S. Lewis | M. Gérard | G. Ramelli | P. Callier | P. Kroisel | L. Hippolyte | J. Cuisset | R. Walters | D. Koolen | R. Fisher | C. Coutton | D. Descamps | A. Aboura | M. Holder | C. Vincent‐Delorme | M. Barth | Y. Alembik | A. David | M. Doco‐Fenzy | D. Heron | J. Chiésa | L. Harewood | B. Blaumeiser | Flore Zufferey | M. Delrue | Gérard Didelot | K. Männik | A. Ferrarini | M. Addor | M. Belfiore | K. Roetzer | A. Guichet | G. Plessis | V. Layet | B. Duban-Bedu | O. Boute | B. Leheup | B. Keren | D. Sanlaville | B. Leube | D. Martinet | S. Bouquillon | N. Leeuw | B. D. Vries | A. Guilmatre | C. Caignec | M. Haelst | Sergio Gómez | Faida Walha | Yongguo Yu | N. Bednarek | M. Béri | D. Cailley | J. Cuvellier | B. Freminville | B. Demeer | K. Dieterich | V. Disciglio | S. Drunat | C. Dubourg | J. Moustafa | A. Faudet | E. Flori | D. Gaillard | S. Jaillard | Z. Jaros | Géraldine Joly Helas | Satu Kaksonen | A. Kloss-Brandstätter | A. Labalme | E. Landais | S. Legallic | J. Lucas | P. Magnússon | M. Mathieu-Dramard | M. Mencarelli | A. Moerman | F. Petit | E. Rajcan-Separovic | C. Rieubland | M. Rossi | V. Satre | C. Tengström | E. V. Binsbergen | N. Aa | Simon Zwolinksi | F. Morice-Picard | B. Duban‐Bedu | B. Vries | Solenn Legallic | Jacqueline Chrast | M. McCarthy | Vittoria Disciglio

[1]  真田 昌.  骨髄異形成症候群のgenome-wide analysis , 2013 .

[2]  B. Caballero,et al.  Use and interpretation of anthropometry , 2012 .

[3]  C. V. Jongeneel,et al.  Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort , 2012, BMC Genomics.

[4]  H. Hakonarson,et al.  A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa , 2011, Molecular Psychiatry.

[5]  E. Walker,et al.  Diagnostic and Statistical Manual of Mental Disorders , 2013 .

[6]  W. Rathmann,et al.  Cohort profile: the study of health in Pomerania. , 2011, International journal of epidemiology.

[7]  R. Shephard.  Body-Mass Index and Mortality among 1.46 Million White Adults , 2011 .

[8]  Juan I. Young,et al.  Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models , 2010, PLoS biology.

[9]  H. Stefánsson,et al.  Supplementary webappendix , 2018 .

[10]  E. Eichler,et al.  Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.

[11]  L. Khaodhiar,et al.  Metabolic syndrome with the atypical antipsychotics. , 2010, Current opinion in endocrinology, diabetes, and obesity.

[12]  Philippe Froguel,et al.  cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs , 2010, Nature Methods.

[13]  F. Tinahones,et al.  Obesity and Insulin Resistance-Related Changes in the Expression of Lipogenic and Lipolytic Genes in Morbidly Obese Subjects , 2010, Obesity surgery.

[14]  B. Walsh,et al.  Feeding and eating disorders in childhood. , 2010, The International journal of eating disorders.

[15]  M. Marcus,et al.  Classification of eating disturbance in children and adolescents: proposed changes for the DSM-V. , 2010, European eating disorders review : the journal of the Eating Disorders Association.

[16]  M. Hurles,et al.  Large, rare chromosomal deletions associated with severe early-onset obesity , 2010, Nature.

[17]  D. Segal.  Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) , 2010 .

[18]  B. Crespi,et al.  Comparative genomics of autism and schizophrenia , 2010, Proceedings of the National Academy of Sciences.

[19]  J. Hebebrand,et al.  Eating disorders: the current status of molecular genetic research , 2009, European Child & Adolescent Psychiatry.

[20]  P. Stankiewicz,et al.  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size , 2009, Journal of Medical Genetics.

[21]  Jessica R. Wolff,et al.  Microduplications of 16p11.2 are Associated with Schizophrenia , 2009, Nature Genetics.

[22]  J. Moreno-Navarrete,et al.  Complement Factor H Is Expressed in Adipose Tissue in Association With Insulin Resistance , 2009, Diabetes.

[23]  Christian R Marshall,et al.  Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder , 2009, Journal of Medical Genetics.

[24]  Laurence Faivre,et al.  Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. , 2009, Archives of general psychiatry.

[25]  A. Rigby,et al.  Acquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes , 2009, Pediatrics.

[26]  Robert T. Schultz,et al.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes , 2009, Nature.

[27]  P. Froguel,et al.  Regulation of carboxylesterase 1 (CES1) in human adipose tissue , 2009, Biochemical and biophysical research communications.

[28]  R. Mägi,et al.  Genetic Structure of Europeans: A View from the North–East , 2009, PloS one.

[29]  Charlotte N. Henrichsen,et al.  Segmental copy number variation shapes tissue transcriptomes , 2009, Nature Genetics.

[30]  J. Schuurs-Hoeijmakers,et al.  Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. , 2009, European journal of medical genetics.

[31]  Terence P. Speed,et al.  A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods , 2009, Bioinform..

[32]  Barbara Heude,et al.  Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations , 2009, Nature Genetics.

[33]  Christian Gieger,et al.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation , 2009, Nature Genetics.

[34]  C. Hoggart,et al.  Genome-wide association analysis of metabolic traits in a birth cohort from a founder population , 2008, Nature Genetics.

[35]  L. Grummer-Strawn,et al.  Comparison of the prevalence of shortness, underweight, and overweight among US children aged 0 to 59 months by using the CDC 2000 and the WHO 2006 growth charts. , 2008, The Journal of pediatrics.

[36]  Joshua M. Korn,et al.  Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs , 2008, Nature Genetics.

[37]  Sharon J. Diskin,et al.  Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms , 2008, Nucleic acids research.

[38]  Alexandre Reymond,et al.  Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. , 2008, Human molecular genetics.

[39]  Jian Zhang,et al.  Overweight Is Associated With Decreased Cognitive Functioning Among School‐age Children and Adolescents , 2008, Obesity.

[40]  B. Crespi,et al.  Psychosis and autism as diametrical disorders of the social brain. , 2008, The Behavioral and brain sciences.

[41]  Vincent Mooser,et al.  The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome , 2008, BMC cardiovascular disorders.

[42]  M. Gail,et al.  Cause-Specific Excess Deaths Associated With Underweight, Overweight, and Obesity , 2008 .

[43]  Terence P. Speed,et al.  Estimation and assessment of raw copy numbers at the single locus level , 2008, Bioinform..

[44]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[45]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[46]  J. Moreno-Navarrete,et al.  Association of circulating lactoferrin concentration and 2 nonsynonymous LTF gene polymorphisms with dyslipidemia in men depends on glucose-tolerance status. , 2008, Clinical chemistry.

[47]  G. Siest,et al.  The STANISLAS Cohort: a 10-year follow-up of supposed healthy families. Gene-environment interactions, reference values and evaluation of biomarkers in prevention of cardiovascular diseases , 2008, Clinical chemistry and laboratory medicine.

[48]  M. Gail,et al.  Cause-specific excess deaths associated with underweight, overweight, and obesity. , 2007, JAMA.

[49]  Joseph T. Glessner,et al.  PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.

[50]  M. Gratacós,et al.  Altered brain‐derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia , 2007, Genes, brain, and behavior.

[51]  Tomas W. Fitzgerald,et al.  Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization , 2007, Genome Biology.

[52]  C. Nishida,et al.  Development of a WHO growth reference for school-aged children and adolescents. , 2007, Bulletin of the World Health Organization.

[53]  Steven P Gygi,et al.  Abraxas and RAP80 Form a BRCA1 Protein Complex Required for the DNA Damage Response , 2007, Science.

[54]  J. Fernández-Real,et al.  Alpha Defensins 1, 2, and 3: Potential Roles in Dyslipidemia and Vascular Dysfunction in Humans , 2007, Arteriosclerosis, thrombosis, and vascular biology.

[55]  C. Yau,et al.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data , 2007, Nucleic acids research.

[56]  E. S. Venkatraman,et al.  A faster circular binary segmentation algorithm for the analysis of array CGH data , 2007, Bioinform..

[57]  R. Redon,et al.  Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes , 2007, Science.

[58]  Failure to thrive: the prevalence and concurrence of anthropometric criteria in a general infant population , 2006, Archives of Disease in Childhood.

[59]  E. Borghi,et al.  Comparison of the WHO child growth standards and the CDC 2000 growth charts. , 2007, The Journal of nutrition.

[60]  G. Mortier,et al.  qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data , 2007, Genome Biology.

[61]  Charlotte N. Henrichsen,et al.  Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. , 2006, American journal of human genetics.

[62]  K. Kristjánsson,et al.  Validity of Self-Report and Informant Rating Scales of Adult ADHD Symptoms in Comparison With a Semistructured Diagnostic Interview , 2006, Journal of attention disorders.

[63]  J. Fernández-Real,et al.  Natural antibiotics and insulin sensitivity: the role of bactericidal/permeability-increasing protein. , 2006, Diabetes.

[64]  P. Lapunzina,et al.  Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome , 2005, Clinical genetics.

[65]  S. Logan,et al.  What is the long term outcome for children who fail to thrive? A systematic review , 2005, Archives of Disease in Childhood.

[66]  C. Gieger,et al.  KORA-gen - Resource for Population Genetics, Controls and a Broad Spectrum of Disease Phenotypes , 2005, Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)).

[67]  D. Collier,et al.  Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations , 2005, European Journal of Human Genetics.

[68]  U. John,et al.  Study of Health in Pomerania (SHIP): A health examination survey in an east German region: Objectives and design , 2005, Sozial- und Präventivmedizin.

[69]  M. Wigler,et al.  Circular binary segmentation for the analysis of array-based DNA copy number data. , 2004, Biostatistics.

[70]  D. Eccles,et al.  Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification , 2004, British Journal of Cancer.

[71]  E. Frongillo,et al.  Estimates of global prevalence of childhood underweight in 1990 and 2015. , 2004, JAMA.

[72]  Keith W. Jones,et al.  Whole genome DNA copy number changes identified by high density oligonucleotide arrays , 2004, Human Genomics.

[73]  R. Drewett,et al.  To what extent is failure to thrive in infancy associated with poorer cognitive development? A review and meta-analysis. , 2004, Journal of child psychology and psychiatry, and allied disciplines.

[74]  M. Gratacós,et al.  Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa , 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[75]  R. Drewett.  Towhat extent is failure to thrive in infancy associated with poorer cognitive development ? , 2004 .

[76]  J. Schouten,et al.  Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) , 2003, Journal of medical genetics.

[77]  Ruth A. Carper,et al.  Evidence of brain overgrowth in the first year of life in autism. , 2003, JAMA.

[78]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[79]  Angelo Pietrobelli,et al.  Validity of body mass index compared with other body-composition screening indexes for the assessment of body fatness in children and adolescents. , 2002, The American journal of clinical nutrition.

[80]  F. Speleman,et al.  Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes , 2002, Genome Biology.

[81]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[82]  A F Roche,et al.  CDC growth charts: United States. , 2000, Advance data.

[83]  P. Magnússon,et al.  Attention-Deficit/Hyperactivity symptoms in Icelandic schoolchildren: assessment with the Attention Deficit/Hyperactivity Rating Scale-IV. , 1999, Scandinavian journal of psychology.

[84]  J. Wit,et al.  Growth diagrams 1997. Fourth Dutch nation-wide survey , 1999 .

[85]  A. R. Frisancho.  Physical Status: The Use and Interpretation of Anthropometry , 1996, The American Journal of Clinical Nutrition.

[86]  D. Sellen,et al.  Genetics of Criminal and Antisocial Behaviour. Ciba Foundation Symposium 194. Pp. 283. Edited by G. R. Bock & J. A. Goode. (Wiley, Chichester, 1996.) £50.00. , 1998, Journal of Biosocial Science.

[87]  T J Cole,et al.  Body Mass Index variations: centiles from birth to 87 years. , 1991, European journal of clinical nutrition.

[88]  L. Molinari,et al.  Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. , 1989, Helvetica paediatrica acta. Supplementum.

[89]  V. Caron,et al.  United states. , 2018, Nursing standard (Royal College of Nursing (Great Britain) : 1987).

[90]  Juliea Morris,et al.  Statistics in Medicine: Calculating confidence intervals for relative risks (odds ratios) and standardised ratios and rates , 1988, British medical journal.

[91]  J. Endicott,et al.  A diagnostic interview: the schedule for affective disorders and schizophrenia. , 1978, Archives of general psychiatry.

[92]  E. Robins,et al.  Research diagnostic criteria: rationale and reliability. , 1978, Archives of general psychiatry.