Genetic approaches to stature, pubertal timing, and other complex traits.
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[1] Luc J. Smink,et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease , 2003, Nature.
[2] F. Speleman,et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome , 2003, Nature Genetics.
[3] F. Hirahara,et al. Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women. , 2003, The Journal of clinical endocrinology and metabolism.
[4] E. Lander,et al. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease , 2003, Nature Genetics.
[5] J. Hirschhorn,et al. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. , 2002, The Journal of clinical endocrinology and metabolism.
[6] Hui Shen,et al. A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. , 2002, American journal of medical genetics.
[7] Jennifer Couzin,et al. HapMap Launched With Pledges of $100 Million , 2002, Science.
[8] David Altshuler,et al. Once and again-issues surrounding replication in genetic association studies. , 2002, The Journal of clinical endocrinology and metabolism.
[9] D. Postma,et al. Major recessive gene(s) with considerable residual polygenic effect regulating adult height: confirmation of genomewide scan results for chromosomes 6, 9, and 12. , 2002, American journal of human genetics.
[10] K. Lunetta,et al. Testing for population subdivision and association in four case-control studies. , 2002, American journal of human genetics.
[11] L. Cohen,et al. Molecular basis of combined pituitary hormone deficiencies. , 2002, Endocrine reviews.
[12] Steuart Rorke,et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness , 2002, Nature.
[13] J. Jameson,et al. Perspective: Genetic causes of human reproductive disease , 2002 .
[14] D. Gudbjartsson,et al. A high-resolution recombination map of the human genome , 2002, Nature Genetics.
[15] J. Jameson,et al. Genetic causes of human reproductive disease. , 2002, The Journal of clinical endocrinology and metabolism.
[16] G. Chrousos,et al. Monogenic Disorders of Puberty , 2002 .
[17] S. Gabriel,et al. The Structure of Haplotype Blocks in the Human Genome , 2002, Science.
[18] R. Myers,et al. Candidate-gene approaches for studying complex genetic traits: practical considerations , 2002, Nature Reviews Genetics.
[19] M. Palmert,et al. Delayed puberty: analysis of a large case series from an academic center. , 2002, The Journal of clinical endocrinology and metabolism.
[20] Y. Fukushima,et al. Haploinsufficiency of NSD1 causes Sotos syndrome , 2002, Nature Genetics.
[21] J. Hirschhorn,et al. A comprehensive review of genetic association studies , 2002, Genetics in Medicine.
[22] G. Rappold,et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. , 2002, The Journal of clinical endocrinology and metabolism.
[23] M. McCarthy,et al. Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. , 2002, American journal of human genetics.
[24] Michael A. Patton,et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome , 2001, Nature Genetics.
[25] A. Syvänen. Accessing genetic variation: genotyping single nucleotide polymorphisms , 2001, Nature Reviews Genetics.
[26] D. Rimoin,et al. Molecular-pathogenetic classification of genetic disorders of the skeleton. , 2001, American journal of medical genetics.
[27] S. P. Fodor,et al. Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21 , 2001, Science.
[28] J. Ioannidis,et al. Replication validity of genetic association studies , 2001, Nature Genetics.
[29] L. Palmer,et al. Genomewide scans of complex human diseases: true linkage is hard to find. , 2001, American journal of human genetics.
[30] N J Cox,et al. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. , 2001, American journal of human genetics.
[31] M. Daly,et al. High-resolution haplotype structure in the human genome , 2001, Nature Genetics.
[32] Frank Dudbridge,et al. Haplotype tagging for the identification of common disease genes , 2001, Nature Genetics.
[33] Sinead B. O'Leary,et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease , 2001, Nature Genetics.
[34] E. Lander,et al. On the allelic spectrum of human disease. , 2001, Trends in genetics : TIG.
[35] L. Peltonen,et al. Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. , 2001, American journal of human genetics.
[36] E. Lander,et al. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. , 2001, American journal of human genetics.
[37] J. Pritchard. Are rare variants responsible for susceptibility to complex diseases? , 2001, American journal of human genetics.
[38] M. Palmert,et al. Variation in the timing of puberty: clinical spectrum and genetic investigation. , 2001, The Journal of clinical endocrinology and metabolism.
[39] Mourad Sahbatou,et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease , 2001, Nature.
[40] Judy H. Cho,et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease , 2001, Nature.
[41] M. Daly,et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.
[42] David Valle,et al. Human disease genes , 2001, Nature.
[43] L. Cardon,et al. Association study designs for complex diseases , 2001, Nature Reviews Genetics.
[44] D. Reich,et al. Detecting association in a case‐control study while correcting for population stratification , 2001, Genetic epidemiology.
[45] Anita L. DeStefano,et al. Evidence for a Gene Influencing Blood Pressure on Chromosome 17: Genome Scan Linkage Results for Longitudinal Blood Pressure Phenotypes in Subjects From the Framingham Heart Study , 2000, Hypertension.
[46] K. Weiss,et al. How many diseases does it take to map a gene with SNPs? , 2000, Nature Genetics.
[47] Tom H. Lindner,et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus , 2000, Nature Genetics.
[48] P. Donnelly,et al. Association mapping in structured populations. , 2000, American journal of human genetics.
[49] P. Sham,et al. Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. , 2000, American journal of human genetics.
[50] J. Kaprio,et al. Relative effect of genetic and environmental factors on body height: differences across birth cohorts among Finnish men and women. , 2000, American journal of public health.
[51] L Kruglyak,et al. Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components. , 2000, American journal of human genetics.
[52] K. Clément,et al. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. , 2000, The Journal of clinical investigation.
[53] K. Roeder,et al. Genomic Control for Association Studies , 1999, Biometrics.
[54] J. Argente. Diagnosis of Late Puberty , 1999, Hormone Research in Paediatrics.
[55] A. Prentice,et al. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. , 1999, The New England journal of medicine.
[56] N. Shen,et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis , 1999, Nature Genetics.
[57] W. Crowley,et al. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. , 1998, Endocrine reviews.
[58] N E Morton,et al. Tests and estimates of allelic association in complex inheritance. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[59] J C Murray,et al. Pediatrics and , 1998 .
[60] D. Altshuler,et al. Genetic polymorphisms and disease. , 1998, The New England journal of medicine.
[61] K. Clément,et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction , 1998, Nature.
[62] A. Strosberg,et al. A leptin missense mutation associated with hypogonadism and morbid obesity , 1998, Nature Genetics.
[63] P. A. Lee,et al. Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency. , 1997, Biochemical and molecular medicine.
[64] Francis S. Collins,et al. Variations on a Theme: Cataloging Human DNA Sequence Variation , 1997, Science.
[65] P. Chanson,et al. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. , 1997, The New England journal of medicine.
[66] J. Dausset,et al. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women , 1997, Human Genetics.
[67] S. O’Rahilly,et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene , 1997, Nature Genetics.
[68] S. O’Rahilly,et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans , 1997, Nature.
[69] A. Rosenthal,et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome , 1997, Nature Genetics.
[70] G. Koch,et al. Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. , 1997, Pediatrics.
[71] G. Coetzee,et al. A polymorphism in the CYP17 gene increases the risk of breast cancer. , 1997, Cancer research.
[72] L. Holmes,et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. , 1996, The Journal of clinical endocrinology and metabolism.
[73] W J Ewens,et al. The TDT and other family-based tests for linkage disequilibrium and association. , 1996, American journal of human genetics.
[74] N Risch,et al. The Future of Genetic Studies of Complex Human Diseases , 1996, Science.
[75] J. Todd,et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. , 1996, Human molecular genetics.
[76] Cécile Fizames,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.
[77] D. Bentley,et al. Identification of the breast cancer susceptibility gene BRCA2 , 1995, Nature.
[78] D. Loesch,et al. Genetic correlates of menarcheal age: a multivariate twin study. , 1995, Annals of human biology.
[79] E. Lander,et al. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.
[80] J. Kaprio,et al. Common genetic influences on BMI and age at menarche. , 1995, Human biology.
[81] H. P. Schwarz,et al. Final height and predicted height in boys with untreated constitutional growth delay , 1995, European Journal of Pediatrics.
[82] M. McGue,et al. A cross-sectional examination of height, weight, and body mass index in adult twins. , 1995, The journals of gerontology. Series A, Biological sciences and medical sciences.
[83] A. Monaco,et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism , 1994, Nature.
[84] A. Monaco,et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita , 1994, Nature.
[85] Patrick Dowd,et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families , 1994, Nature Genetics.
[86] Francis S. Collins,et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer , 1994, Nature Genetics.
[87] J. Rommens,et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families , 1994, Nature Genetics.
[88] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[89] J. Witte,et al. Genetic dissection of complex traits. , 1994, Nature genetics.
[90] K H Buetow,et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). , 1994, Science.
[91] J. Weissenbach,et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules , 1991, Cell.
[92] E. Maestrini,et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules , 1991, Nature.
[93] N. Martin,et al. Estimating genetic influences on the age-at-menarche: a survival analysis approach. , 1991, American journal of medical genetics.
[94] N. Martin,et al. Age at menarche as a fitness trait: nonadditive genetic variance detected in a large twin sample. , 1990, American journal of human genetics.
[95] K. Phillips,et al. Quantitative genetic analysis of longitudinal trends in height: preliminary results from the Louisville Twin Study. , 1990, Acta geneticae medicae et gemellologiae.
[96] R. Rosenfield. Diagnosis and Management of Delayed Puberty , 1990 .
[97] N. Risch. Linkage strategies for genetically complex traits. I. Multilocus models. , 1990, American journal of human genetics.
[98] G. Novelli,et al. Laron dwarfism and mutations of the growth hormone-receptor gene. , 1989, The New England journal of medicine.
[99] L. Meacham,et al. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[100] P. Seeburg,et al. Molecular basis for familial isolated growth hormone deficiency. , 1981, Proceedings of the National Academy of Sciences of the United States of America.
[101] A. Prader. 6 Delayed adolescence , 1975 .
[102] R. Wurtman,et al. Age at menarche. Genetic and environmentalinfluences. , 1969, The New England journal of medicine.
[103] M. Wajnrajch. Genetic Disorders of Human Growth , 2002, Journal of pediatric endocrinology & metabolism : JPEM.
[104] M. Preece,et al. The genetic contribution to stature. , 1996, Hormone research.
[105] H. Kulin. Extensive personal experience : Delayed puberty , 1996 .
[106] H. Whittle,et al. Twin children in The Gambia: evidence for genetic regulation of physical characteristics in the presence of sub-optimal nutrition. , 1994, Annals of tropical paediatrics.
[107] J. Chaussain,et al. Etiologies of late puberty. , 1991, Hormone research.
[108] R. Giorgino,et al. Excessive sweating: a misinterpreted sign of pheochromocytoma , 1989, Journal of endocrinological investigation.
[109] E. Lander,et al. Mapping mendelian factors underlying quantitative traits using RFLP linkage maps. , 1989, Genetics.
[110] W. A. Marshall,et al. The Genetics of Adult Stature , 1978 .
[111] M. Sklad. The rate of growth and maturing of twins. , 1977, Acta geneticae medicae et gemellologiae.
[112] S. Fischbein. Intra-pair similarity in physical growth of monozygotic and of dizygotic twins during puberty. , 1977, Annals of human biology.