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erfelijkheid --- genetica --- Human genetics --- fragiele-x-syndroom --- erfelijke ziekten --- Intellectual Disability --- Genetic Diseases, Inborn --- X Chromosome --- Sex Chromosome Disorders --- X-linked mental retardation --- genetics --- X-linked mental retardation.
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The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differ
X-linked mental retardation --- XLMR (Disease) --- Intellectual disability --- X chromosome --- Abnormalities --- Idiocy --- Intellectual disabilities --- Mental deficiency --- Mental retardation --- Developmental disabilities --- Psychology, Pathological --- People with mental disabilities
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'Females are Mosaics' focuses on the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease.
X chromosome. --- Mosaicism. --- Sex determination, Genetic. --- Sex-linkage (Genetics) --- Linkage (Genetics) --- Sex chromosomes --- Chromosomal sex determination --- Determination of sex, Genetic --- Genetic determination of sex --- Genotypic sex determination --- Sex --- Sex determination, Genetic --- Gene expression --- Sex determination --- Chromosomal mosaicism --- Chromosome mosaics --- Mosaics (Genetics) --- Mosaics, Chromosome --- Genetics --- Chromosome X --- Cause and determination --- X Chromosome Inactivation --- Genetic Diseases, X-Linked. --- Sex Factors. --- physiology. --- Genetic sex determination.
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A tiny scrap of genetic information determines our sex; it also consigns many of us to a life of disease, directs or disrupts the everyday working of our bodies, and forces women to live as genetic chimeras. The culprit--so necessary and yet the source of such upheaval--is the X chromosome, and this is its story. An enlightening and entertaining tour of the cultural and natural history of this intriguing member of the genome, The X in Sex traces the journey toward our current understanding of the nature of X. From its chance discovery in the nineteenth century to the promise and implications of ongoing research, David Bainbridge shows how the X evolved and where it and its counterpart Y are going, how it helps assign developing human babies their sex--and maybe even their sexuality--and how it affects our lives in infinitely complex and subtle ways. X offers cures for disease, challenges our cultural, ethical, and scientific assumptions about maleness and femaleness, and has even reshaped our views of human evolution and human nature.
X chromosome. --- Sex determination, Genetic. --- Chromosomal sex determination --- Determination of sex, Genetic --- Genetic determination of sex --- Genotypic sex determination --- Sex --- Sex determination, Genetic --- Gene expression --- Sex chromosomes --- Sex determination --- Chromosome X --- Cause and determination --- Genetic sex determination --- X chromosome --- Genetic sex determination.
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This practical, extensively illustrated handbook covers the procedures that are undertaken in andrology and ART laboratories to analyse and assess male-factor infertility, and to prepare spermatozoa for use in assisted conception therapy. The content is presented as brief, authoritative overviews of the relevant biological background for each area, plus detailed, step-by-step descriptions of the relevant analytical procedures. Each technical section includes quality control considerations and the optimum presentation of results. In addition to the comprehensive 'basic' semen analysis, incorporating careful analysis of sperm morphology, the handbook provides established techniques for the use of computer-aided sperm analysis and sperm functional assessment. The interpretation of laboratory results in the clinical context is highlighted throughout, and safe laboratory practice is emphasized. Fully revised, incorporating the new ISO TS 23162 on basic human semen analysis throughout, this is an invaluable resource to all scientists and technicians who perform diagnostic testing for male-factor infertility.
Semen --- Andrology --- Examination --- Laboratory manuals. --- Generative organs, Male --- Human reproduction --- Men --- Body fluids --- Exocrine glands --- Spermatozoa --- Testis --- Endocrine aspects --- Diseases --- Physiology --- Secretions --- Semen Analysis --- Infertility, Male --- Spermatozoon --- X-Bearing Sperm --- X-Chromosome-Bearing Sperm --- Y-Bearing Sperm --- Y-Chromosome-Bearing Sperm --- Sperm --- Sperm, X-Bearing --- Sperm, X-Chromosome-Bearing --- Sperm, Y-Bearing --- Sperm, Y-Chromosome-Bearing --- Sperms, X-Bearing --- Sperms, X-Chromosome-Bearing --- Sperms, Y-Bearing --- Sperms, Y-Chromosome-Bearing --- X Bearing Sperm --- X Chromosome Bearing Sperm --- X-Bearing Sperms --- X-Chromosome-Bearing Sperms --- Y Bearing Sperm --- Y Chromosome Bearing Sperm --- Y-Bearing Sperms --- Y-Chromosome-Bearing Sperms --- Sub-Fertility, Male --- Subfertility, Male --- Sterility, Male --- Male Infertility --- Male Sterility --- Male Sub-Fertility --- Male Subfertility --- Sub Fertility, Male --- Sperm Injections, Intracytoplasmic --- Semen Quality Analysis --- Semen Quality --- Analyses, Semen Quality --- Analysis, Semen Quality --- Qualities, Semen --- Quality Analyses, Semen --- Quality, Semen --- Semen Analyses --- Semen Qualities --- Semen Quality Analyses --- Semen Analysis. --- Infertility, Male. --- Spermatozoa.
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This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
X-linked mental retardation --- Sex Chromosome Disorders --- X Chromosome --- Genetic Diseases, Inborn --- Sex Chromosomes --- Chromosome Disorders --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Chromosomes --- Diseases --- Congenital Abnormalities --- Cellular Structures --- Genetic Structures --- Genetic Phenomena --- Cells --- Anatomy --- X-linked Intellectual disability --- Sex Chromosome Disorders. --- X Chromosome. --- Genetic Diseases, Inborn. --- Sex Chromosomes. --- Chromosome Disorders. --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities. --- Chromosomes. --- Disease. --- Congenital Abnormalities. --- Cellular Structures. --- Genetic Structures. --- Genetic Phenomena. --- Cells. --- Anatomy.
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Genital Diseases, Male --- Genitalia, Male --- Appareil génital masculin --- Appareil génital masculin, maladies --- Genital Diseases, Male. --- Infertility, Male. --- Androgens. --- Spermatozoa. --- Testis --- Genitalia, Male. --- Accessory Sex Organs, Male --- Genital Organs, Male --- Sex Organs, Accessory, Male --- Male Genital Organs --- Male Genitalia --- Organs, Male Genital --- Spermatozoon --- X-Bearing Sperm --- X-Chromosome-Bearing Sperm --- Y-Bearing Sperm --- Y-Chromosome-Bearing Sperm --- Sperm --- Sperm, X-Bearing --- Sperm, X-Chromosome-Bearing --- Sperm, Y-Bearing --- Sperm, Y-Chromosome-Bearing --- Sperms, X-Bearing --- Sperms, X-Chromosome-Bearing --- Sperms, Y-Bearing --- Sperms, Y-Chromosome-Bearing --- X Bearing Sperm --- X Chromosome Bearing Sperm --- X-Bearing Sperms --- X-Chromosome-Bearing Sperms --- Y Bearing Sperm --- Y Chromosome Bearing Sperm --- Y-Bearing Sperms --- Y-Chromosome-Bearing Sperms --- Semen --- Androgen Effect --- Androgen Effects --- Androgen Receptor Agonists --- Androgenic Agents --- Androgenic Compounds --- Agents, Androgenic --- Agonists, Androgen Receptor --- Compounds, Androgenic --- Effect, Androgen --- Effects, Androgen --- Receptor Agonists, Androgen --- Receptors, Androgen --- Sub-Fertility, Male --- Subfertility, Male --- Sterility, Male --- Male Infertility --- Male Sterility --- Male Sub-Fertility --- Male Subfertility --- Sub Fertility, Male --- Sperm Injections, Intracytoplasmic --- Male Genital Diseases --- Disease, Male Genital --- Diseases, Male Genital --- Genital Disease, Male --- Male Genital Disease --- physiology. --- agonists --- Appareil génital masculin --- Appareil génital masculin, maladies --- Genitals, Male --- Reproductive System, Male --- Genital, Male --- Male Genital --- Male Genitals --- Male Reproductive System --- Male Reproductive Systems --- Reproductive Systems, Male --- System, Male Reproductive --- Systems, Male Reproductive --- Androgen --- Androgen Receptor Agonist --- Agonist, Androgen Receptor --- Receptor Agonist, Androgen --- Infertility, Male --- Androgens --- Spermatozoa --- physiology
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Reproductive health --- Biological systems --- Santé de la reproduction --- Systèmes biologiques --- Periodicals. --- Périodiques --- Systems biology --- Reproductive Medicine. --- Systems Biology. --- Reproductive health. --- Systems biology. --- Endocrinology. --- Genital Diseases, Male. --- Genitalia, Male. --- Semen. --- Spermatozoa. --- Spermatozoon --- X-Bearing Sperm --- X-Chromosome-Bearing Sperm --- Y-Bearing Sperm --- Y-Chromosome-Bearing Sperm --- Sperm --- Sperm, X-Bearing --- Sperm, X-Chromosome-Bearing --- Sperm, Y-Bearing --- Sperm, Y-Chromosome-Bearing --- Sperms, X-Bearing --- Sperms, X-Chromosome-Bearing --- Sperms, Y-Bearing --- Sperms, Y-Chromosome-Bearing --- X Bearing Sperm --- X Chromosome Bearing Sperm --- X-Bearing Sperms --- X-Chromosome-Bearing Sperms --- Y Bearing Sperm --- Y Chromosome Bearing Sperm --- Y-Bearing Sperms --- Y-Chromosome-Bearing Sperms --- Semen --- Seminal Plasma --- Plasma, Seminal --- Accessory Sex Organs, Male --- Genital Organs, Male --- Sex Organs, Accessory, Male --- Male Genital Organs --- Male Genitalia --- Organs, Male Genital --- Male Genital Diseases --- Disease, Male Genital --- Diseases, Male Genital --- Genital Disease, Male --- Male Genital Disease --- Medicine, Reproductive --- Gynecology --- Reproductive Health --- Endocrinology and Metabolism Specialty --- Metabolism and Endocrinology Specialty --- Endocrine System Diseases --- Periodicals --- Health Sciences --- Physiology --- Reproductive Medicine --- Systems Biology --- Endocrinology --- Genital Diseases, Male --- Genitalia, Male --- Spermatozoa --- Genitals, Male --- Reproductive System, Male --- Genital, Male --- Male Genital --- Male Genitals --- Male Reproductive System --- Male Reproductive Systems --- Reproductive Systems, Male --- System, Male Reproductive --- Systems, Male Reproductive
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Andrology --- Generative organs, Male --- Genital Diseases, Male --- Genitalia, Male --- Semen --- Spermatozoa --- Diseases --- Andrology. --- Genital Diseases, Male. --- Genitalia, Male. --- Spermatozoa. --- Semen. --- Diseases. --- Reproductive Medicine. --- Men's Health. --- Seminal Plasma --- Plasma, Seminal --- Spermatozoon --- X-Bearing Sperm --- X-Chromosome-Bearing Sperm --- Y-Bearing Sperm --- Y-Chromosome-Bearing Sperm --- Sperm --- Sperm, X-Bearing --- Sperm, X-Chromosome-Bearing --- Sperm, Y-Bearing --- Sperm, Y-Chromosome-Bearing --- Sperms, X-Bearing --- Sperms, X-Chromosome-Bearing --- Sperms, Y-Bearing --- Sperms, Y-Chromosome-Bearing --- X Bearing Sperm --- X Chromosome Bearing Sperm --- X-Bearing Sperms --- X-Chromosome-Bearing Sperms --- Y Bearing Sperm --- Y Chromosome Bearing Sperm --- Y-Bearing Sperms --- Y-Chromosome-Bearing Sperms --- Accessory Sex Organs, Male --- Genital Organs, Male --- Sex Organs, Accessory, Male --- Male Genital Organs --- Male Genitalia --- Organs, Male Genital --- Male Genital Diseases --- Disease, Male Genital --- Diseases, Male Genital --- Genital Disease, Male --- Male Genital Disease --- Male generative organs --- Male generative tract --- Male genital system --- Male genital tract --- Male genitalia --- Male reproductive system --- Male reproductive tract --- Human reproduction --- Men --- Genitals, Male --- Reproductive System, Male --- Genital, Male --- Male Genital --- Male Genitals --- Male Reproductive System --- Male Reproductive Systems --- Reproductive Systems, Male --- System, Male Reproductive --- Systems, Male Reproductive --- Urology --- Generative organs --- Endocrine aspects --- Physiology
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Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome, females have two X chromosomes in every cell. Much has been written about the Y chromosome and its role in inducing maleness. This is the only book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. This new edition reflects research advances from the six years since the widely praised first edition. New advances include knowledge of species
Mosaicism. --- X chromosome --- Genetic disorders. --- Sex factors in disease. --- Diseases --- Pathology --- Sex differences --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Sex chromosome abnormalities --- Chromosomal mosaicism --- Chromosome mosaics --- Mosaics (Genetics) --- Mosaics, Chromosome --- Genetics --- Abnormalities. --- Sex factors