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Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon
| Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon |
| Autore | Migeon Barbara R |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | Oxford : , : Oxford University Press, , [2014] |
| Descrizione fisica | 1 online resource (328 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Mosaicism
X chromosome - Abnormalities Genetic disorders Sex factors in disease |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-19-934366-7
0-19-992754-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Sex differences in disease -- Evolution of the human sex chromosomes and a portrait of the human X -- X chromosome dosage compensation : an overview -- The discovery of X chromosome inactivation -- Experimental models for X inactivation studies -- Theme 1 : the initial step : creating the active and inactive X -- Theme 2 : subsequent steps : spreading and maintaining inactivation -- Variations 1 : evolution of the X inactivation center -- Variations 2 : stability of the inactive X -- Variations 3 : choice of active X -- The single active X -- Mosaicism -- Epimutations, chromatin disorders and sex differences in phenotype -- Determinants of female phenotypes. |
| Record Nr. | UNINA-9910452506403321 |
Migeon Barbara R
|
||
| Oxford : , : Oxford University Press, , [2014] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon
| Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon |
| Autore | Migeon Barbara R |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | Oxford : , : Oxford University Press, , [2014] |
| Descrizione fisica | 1 online resource (328 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Mosaicism
X chromosome - Abnormalities Genetic disorders Sex factors in disease |
| ISBN |
0-19-934366-7
0-19-992754-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Sex differences in disease -- Evolution of the human sex chromosomes and a portrait of the human X -- X chromosome dosage compensation : an overview -- The discovery of X chromosome inactivation -- Experimental models for X inactivation studies -- Theme 1 : the initial step : creating the active and inactive X -- Theme 2 : subsequent steps : spreading and maintaining inactivation -- Variations 1 : evolution of the X inactivation center -- Variations 2 : stability of the inactive X -- Variations 3 : choice of active X -- The single active X -- Mosaicism -- Epimutations, chromatin disorders and sex differences in phenotype -- Determinants of female phenotypes. |
| Record Nr. | UNINA-9910790682503321 |
|
Migeon Barbara R
|
||
| Oxford : , : Oxford University Press, , [2014] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon
| Females are mosaics : X inactivation and sex differences in disease / / Barbara R. Migeon |
| Autore | Migeon Barbara R |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | Oxford : , : Oxford University Press, , [2014] |
| Descrizione fisica | 1 online resource (328 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Mosaicism
X chromosome - Abnormalities Genetic disorders Sex factors in disease |
| ISBN |
0-19-934366-7
0-19-992754-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Sex differences in disease -- Evolution of the human sex chromosomes and a portrait of the human X -- X chromosome dosage compensation : an overview -- The discovery of X chromosome inactivation -- Experimental models for X inactivation studies -- Theme 1 : the initial step : creating the active and inactive X -- Theme 2 : subsequent steps : spreading and maintaining inactivation -- Variations 1 : evolution of the X inactivation center -- Variations 2 : stability of the inactive X -- Variations 3 : choice of active X -- The single active X -- Mosaicism -- Epimutations, chromatin disorders and sex differences in phenotype -- Determinants of female phenotypes. |
| Record Nr. | UNINA-9910822425603321 |
|
Migeon Barbara R
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||
| Oxford : , : Oxford University Press, , [2014] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Females are mosaics [[electronic resource] ] : X inactivation and sex differences in disease / / Barbara R. Migeon
| Females are mosaics [[electronic resource] ] : X inactivation and sex differences in disease / / Barbara R. Migeon |
| Autore | Migeon Barbara R |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, 2007 |
| Descrizione fisica | 1 online resource (xi, 271 p., [8] p. of plates ) : ill. (some col.) |
| Disciplina | 616/.042 |
| Soggetto topico |
X chromosome
Mosaicism Sex determination, Genetic Sex-linkage (Genetics) |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-281-16268-X
0-19-972006-1 1-4294-8700-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910451721103321 |
|
Migeon Barbara R
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||
| Oxford ; ; New York, : Oxford University Press, 2007 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Females are mosaics [[electronic resource] ] : X inactivation and sex differences in disease / / Barbara R. Migeon
| Females are mosaics [[electronic resource] ] : X inactivation and sex differences in disease / / Barbara R. Migeon |
| Autore | Migeon Barbara R |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, 2007 |
| Descrizione fisica | 1 online resource (xi, 271 p., [8] p. of plates ) : ill. (some col.) |
| Disciplina | 616/.042 |
| Soggetto topico |
X chromosome
Mosaicism Sex determination, Genetic Sex-linkage (Genetics) |
| ISBN |
0-19-770667-3
1-281-16268-X 0-19-972006-1 1-4294-8700-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910777823503321 |
|
Migeon Barbara R
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| Oxford ; ; New York, : Oxford University Press, 2007 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg
| Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg |
| Autore | Weksberg Rosanna |
| Pubbl/distr/stampa | London, : Henry Stewart Talks, 2014 |
| Descrizione fisica | 1 online resource (1 streaming video file (37 min.) : color, sound) |
| Collana | Molecular genetics of human disease |
| Soggetto topico |
Epigenetics
Genetic disorders Genomic imprinting Medical genetics Molecular genetics Beckwith-Wiedemann Syndrome Chromosomes, Human, Pair 11 - genetics Epigenesis, Genetic Genomic Imprinting - genetics Molecular Diagnostic Techniques Mosaicism Silver-Russell Syndrome |
| Formato | Videoregistrazioni  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans. |
| Record Nr. | UNINA-9910887856403321 |
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Weksberg Rosanna
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| London, : Henry Stewart Talks, 2014 | ||
| Videoregistrazioni | ||
| Lo trovi qui: Univ. Federico II | ||
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Mosaicism in human skin : understanding nevi, nevoid skin disorders, and cutaneous neoplasia / / Rudolf Happle, Antonio Torrelo
| Mosaicism in human skin : understanding nevi, nevoid skin disorders, and cutaneous neoplasia / / Rudolf Happle, Antonio Torrelo |
| Autore | Happle R (Rudolf) |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2023] |
| Descrizione fisica | 1 online resource (251 pages) : illustrations, portrait |
| Disciplina | 616.5 |
| Soggetto topico |
Skin - Diseases
Mosaicism Skin Neoplasms Skin Diseases Nevus |
| ISBN | 3-030-89937-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Preface -- Acknowledgments -- 1: Introduction -- 2: Mosaicism as a Biological Concept -- 2.1 Historical Beginnings -- 2.2 Mosaicism in Plants -- 2.3 Mosaicism in Animals -- 2.4 Mosaicism in Human Skin -- 2.5 Mosaicism Versus Chimerism -- 2.6 Does the Coat of Zebras Reflect Mosaicism? -- References -- 3: The Major Categories of Mosaicism -- 3.1 Nonsegmental Versus Segmental Mosaicism of Autosomal Dominant Skin Disorders -- 3.1.1 Nonsegmental Mosaicism -- 3.1.2 Segmental Mosaicism -- 3.2 Genomic Versus Epigenetic Mosaicism -- 3.3 Genomic Mosaicism -- 3.3.1 Genomic Mosaicism of Autosomes -- 3.3.1.1 Mosaicism Caused by Loss of Heterozygosity -- 3.3.1.2 Genomic Mosaicism of Lethal Autosomal Mutations -- Mosaicism Caused by Lethal Cytogenetic Abnormalities -- Mosaicism Caused by Lethal Molecular Defects -- 3.3.1.3 Genomic Mosaicism of Nonlethal Autosomal Mutations -- Simple Segmental Mosaicism of Autosomal Dominant Disorders -- Superimposed Mosaicism of Autosomal Dominant Disorders -- Monoallelic Versus Biallelic Mosaicism -- Disseminated Mosaicism of Biallelic Autosomal Dominant Disorders -- Isolated Segmental Biallelic Monoclonal Mosaicism -- Blue Rubber Bleb Angiomatosis ("Blue Rubber Bleb Nevus Syndrome"): A Unique Type of Postzygotic Mosaicism -- 3.3.2 Autosomal Recessive Mosaicism -- 3.3.3 Didymosis (Twin Spotting) -- 3.3.4 Revertant Mosaicism -- 3.3.5 Genomic X-Chromosome Mosaicism in Male Patients -- 3.3.6 Superimposed Segmental Manifestation of Polygenic Skin Disorders -- 3.4 Epigenetic Mosaicism -- 3.4.1 Epigenetic Mosaicism of Autosomal Genes -- 3.4.2 Epigenetic Mosaicism of X Chromosomes -- 3.4.2.1 Functional X-Chromosome Mosaicism in Female Patients -- 3.4.2.2 Why Do Women Live Longer? -- 3.4.2.3 Functional X-Chromosome Mosaicism in Male Patients -- 3.4.3 X-Linked Genes Escaping Inactivation -- References -- 4: Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations -- 4.1 Hypomorphic Alleles and X-Linked Dominant, Male-Lethal Cutaneous Syndromes -- 4.2 Hypomorphic Alleles in Autosomal Dominant Skin Disorders -- References -- 5: The Archetypical Patterns of Segmental Cutaneous Mosaicism -- 5.1 Lines of Blaschko -- 5.1.1 Lines of Blaschko, Narrow Bands -- 5.1.2 Lines of Blaschko, Broad Bands -- 5.1.3 Analogy of Blaschko's Lines in Other Organs -- 5.1.4 Blaschko's Lines in Animals -- 5.1.5 Analogy of Blaschko's Lines in the Murine Brain -- 5.2 Flag-like Pattern -- 5.3 Phylloid Pattern -- 5.4 Lateralization Pattern -- References -- 6: Less Well-Defined or So Far Unclassifiable Patterns -- 6.1 Oblique Pattern (Sash-Like Pattern) -- 6.2 Pallister-Killian Pattern -- 6.3 Midfacial Pattern -- References -- 7: Nevi -- 7.1 The Theory of Lethal Genes Surviving by Mosaicism -- 7.2 Pigmentary Nevi -- 7.2.1 Melanocytic Nevi -- 7.2.1.1 Common Small Melanocytic Nevus. |
| Record Nr. | UNINA-9910632469203321 |
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Happle R (Rudolf)
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| Cham, Switzerland : , : Springer, , [2023] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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