top

  Info

  • Utilizzare la checkbox di selezione a fianco di ciascun documento per attivare le funzionalità di stampa, invio email, download nei formati disponibili del (i) record.

  Info

  • Utilizzare questo link per rimuovere la selezione effettuata.

Biblioteca

MARC Lista (tabellare)
Atlas of genetic diagnosis and counseling / / Harold Chen
Atlas of genetic diagnosis and counseling / / Harold Chen
Autore Chen Harold
Pubbl/distr/stampa New York : , : Springer New York : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (LX, 2224 p. 2472 illus., 2018 illus. in color.)
Disciplina 611.01816
599.935
Soggetto topico Genetic counseling
Genetic disorders - Diagnosis
Scientific atlases
ISBN 1-4614-6430-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Acardia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Alpha thalassemia-mental retardation (ATR-X) syndrome -- Ambiguous genitalia -- Amniotic deformity, adhesions, mutilations (ADAM) syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Bannayan-Riley-Ruvalcaba syndrome -- Beckwith-Wiedemann syndrome -- Behcet disease -- Biotinidase deficiency -- Bladder exstrophy -- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) -- Body stalk anomaly -- Brachydactyly -- Branchial cleft cyst -- Calcinosis cutis -- Campomelic dysplasia -- Carpenter syndrome -- Cat-eye syndrome -- Celiac disease -- Cerebral palsy -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip/palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Clubfoot (talipes equinovarus) -- Collodion baby -- Congenital adrenal hyperplasia -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hemihyperplasia (congenital hemihypertrophy) -- Congenital hydrocephalus -- Congenital hypothyroidism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus-callosum agenesis/dysgenesis -- Craniometaphyseal dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cutis marmorata telangiectatica congenita -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(18p) syndrome -- Del(22q11.2) syndrome -- Del(Yq) syndrome -- Diabetic embryopathy -- Down syndrome -- Duncan syndrome (X-linked lymphoproliferative disease) -- Dyschondrosteosis/Langer mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- EEC syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) syndrome -- Facioscapulohumeral muscular dystrophy (FSH) -- Familial adenomatous polyposis syndrome -- Familial hyperlysinemia -- Familial Mediterranean fever -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fetal hydantoin syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Floppy infant -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon (whistling face) syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification -- Genitopatellar syndrome -- Giant congenital melanocytic nevi (giant congenital nevi) -- Glucose-6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II (Pompe) -- Goldenhar syndrome -- Gorlin (nevoid basal cell carcinoma) syndrome -- Greig cephalopolysyndactyly syndrome -- Hallermann-Streiff syndrome -- Harlequin fetus -- Hemophilia A -- Hereditary hearing loss -- Hereditary hemochromatosis -- Hereditary multiple exostosis -- Herlyn-Werner-Wunderlich syndrome -- Holoprosencephaly -- Holt-Oram syndrome -- Huntington disease -- Hydrolethalus syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Hypopituitarism -- I(1p),I(1q) syndrome -- Isodic(Yq) syndrome -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Joubert syndrome -- Kabuki syndrome -- Kassback-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Loeys-Dietz syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) -- Menkes disease -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Mitochondrial Leber hereditary optic neuropathy -- Mobius syndrome -- Mowat-Wilson Disease -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler Polydystrophy) -- MPS I (Hurler syndrome) -- MPS II (Hunter syndrome) -- MPS III (Sanfilippo syndrome) -- MPS IV (Morquio syndrome) -- MPS VI (Maroteaux-Lamy syndrome) -- Multiple endocrine neoplasia Syndrome -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy -- Nail-Patella Syndrome (hereditary Osteo-onychodysplasia) -- Neonatal Herpes simplex infection -- Nephrogenic diabetes insipidus -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis 1 -- Neurofibromatosis 2 -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Oro-Facial-Digital Syndrome -- Osteogenesis imperfecta -- Osteopetrosis -- Osteopoikilosis -- Otopalatodigital spectrum disorders -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, AD form -- Polycystic kidney disease, AR form -- Popliteal pterygium syndrome -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embryopathy -- Rett syndrome -- Rickets -- Rigid spine syndrome -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Saethre-Chotzen syndrome -- Sagittal synostosis associated with chromosome abnormalities -- Schizencephaly -- Schmid metaphyseal chondrodystrophy -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly syndromes (SRPS) -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Optiz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius (TAR) syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly (Hecht syndrome) -- Trisomy 8 mosaicism (Warkany) syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- Urofacial (Ochoa) Syndrome -- VATER (VACTERL) association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Weill-Marchesani syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked agammaglobulinemia (Bruton type) -- X-linked ichthyosis -- XX Male -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female.-XYY syndrome.
Record Nr. UNINA-9910349295903321
Chen Harold  
New York : , : Springer New York : , : Imprint : Springer, , 2020
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Cancer-related genetic testing and counseling [[electronic resource] ] : workshop proceedings / / National Cancer Policy Forum, Institute of Medicine of the National Academies
Cancer-related genetic testing and counseling [[electronic resource] ] : workshop proceedings / / National Cancer Policy Forum, Institute of Medicine of the National Academies
Pubbl/distr/stampa Washington, D.C., : National Academies Press, c2007
Descrizione fisica 1 online resource (134 p.)
Disciplina 616.99/4042
Soggetto topico Cancer - Genetic aspects - Testing
Genetic screening
Genetic counseling
Soggetto genere / forma Electronic books.
ISBN 1-281-30036-5
9786611300364
0-309-10998-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Front Matter""; ""Contents""; ""Abbreviations and Acronyms""; ""1 Introduction""; ""2 Prepared Presentations and Discussion""; ""References""; ""Appendix: Workshop Agenda""
Record Nr. UNINA-9910454737903321
Washington, D.C., : National Academies Press, c2007
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Cancer-related genetic testing and counseling [[electronic resource] ] : workshop proceedings / / National Cancer Policy Forum, Institute of Medicine of the National Academies
Cancer-related genetic testing and counseling [[electronic resource] ] : workshop proceedings / / National Cancer Policy Forum, Institute of Medicine of the National Academies
Pubbl/distr/stampa Washington, D.C., : National Academies Press, c2007
Descrizione fisica 1 online resource (134 p.)
Disciplina 616.99/4042
Soggetto topico Cancer - Genetic aspects - Testing
Genetic screening
Genetic counseling
ISBN 0-309-17938-6
1-281-30036-5
9786611300364
0-309-10998-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Front Matter""; ""Contents""; ""Abbreviations and Acronyms""; ""1 Introduction""; ""2 Prepared Presentations and Discussion""; ""References""; ""Appendix: Workshop Agenda""
Record Nr. UNINA-9910782713203321
Washington, D.C., : National Academies Press, c2007
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Choosing children [[electronic resource] ] : genes, disability, and design / / Jonathan Glover
Choosing children [[electronic resource] ] : genes, disability, and design / / Jonathan Glover
Autore Glover Jonathan
Pubbl/distr/stampa Oxford, : Clarendon Press
Descrizione fisica 1 online resource (129 p.)
Disciplina 618.92/0042
Collana Uehiro series in practical ethics
Soggetto topico Genetic disorders in children
Abnormalities, Human - Genetic aspects
Medical ethics
Genetic counseling
Soggetto genere / forma Electronic books.
ISBN 1-280-87015-X
9786610870158
0-19-153748-9
1-4294-8711-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Disability and genetic choice -- Parental choice and what we owe to our children -- Human values and genetic design.
Record Nr. UNINA-9910452123503321
Glover Jonathan  
Oxford, : Clarendon Press
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Choosing children [[electronic resource] ] : genes, disability, and design / / Jonathan Glover
Choosing children [[electronic resource] ] : genes, disability, and design / / Jonathan Glover
Autore Glover Jonathan
Pubbl/distr/stampa Oxford, : Clarendon Press
Descrizione fisica 1 online resource (129 p.)
Disciplina 618.92/0042
Collana Uehiro series in practical ethics
Soggetto topico Genetic disorders in children
Abnormalities, Human - Genetic aspects
Medical ethics
Genetic counseling
ISBN 1-280-87015-X
9786610870158
0-19-153748-9
1-4294-8711-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Disability and genetic choice -- Parental choice and what we owe to our children -- Human values and genetic design.
Record Nr. UNINA-9910778124803321
Glover Jonathan  
Oxford, : Clarendon Press
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford, : Oxford University Press, c2012
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
Soggetto genere / forma Electronic books.
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z
Record Nr. UNINA-9910457763203321
Gardner R. J. M  
Oxford, : Oxford University Press, c2012
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford, : Oxford University Press, c2012
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z
Record Nr. UNINA-9910781939103321
Gardner R. J. M  
Oxford, : Oxford University Press, c2012
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa New York, : Oxford University Press, 2004
Descrizione fisica xviii, 577 p., [4] p. of plates : ill. (some col.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Soggetto genere / forma Electronic books.
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Record Nr. UNINA-9910455964903321
Gardner R. J. M  
New York, : Oxford University Press, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa New York : , : Oxford University Press, , 2004
Descrizione fisica 1 online resource (xviii, 577 pages, 4 unnumbered pages of plates) : illustrations (some color)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Record Nr. UNINA-9910780613603321
Gardner R. J. M  
New York : , : Oxford University Press, , 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Counseling about cancer : strategies for genetic counseling / / Katherine A. Schneider, Anu Chittenden, and Kristen Mahoney Shannon
Counseling about cancer : strategies for genetic counseling / / Katherine A. Schneider, Anu Chittenden, and Kristen Mahoney Shannon
Autore Schneider Katherine A.
Edizione [Fourth edition.]
Pubbl/distr/stampa Hoboken, NJ : , : Wiley-Blackwell, , [2023]
Descrizione fisica 1 online resource (547 pages)
Disciplina 616.994042
Soggetto topico Cancer - Genetic aspects
Genetic counseling
ISBN 1-119-46649-0
1-119-46648-2
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover -- Title Page -- Copyright Page -- Contents -- Foreword -- Preface -- Acknowledgments -- Chapter 1 Cancer Diagnosis and Treatment -- 1.1. The Diagnosis of Cancer -- 1.1.1. Cancer Detection -- 1.1.2. Making the Diagnosis of Cancer -- 1.1.3. Cancer Terminology -- 1.1.4. Primary Cancer or Recurrence -- 1.2. Tumor Classification -- 1.2.1. Benign Tumors -- 1.2.2. Tumor Grading -- 1.2.3. Staging -- 1.2.4. Genetic Analysis of the Tumor -- 1.3. Cancer Treatment -- 1.3.1. Surgery -- 1.3.2. Radiation Therapy -- 1.3.3. Chemotherapy -- 1.3.4. Targeted Therapy -- 1.3.5. Stem Cell Transplantation -- 1.3.6. Additional Cancer Therapies -- 1.4. Risk Factors for Cancer -- 1.5. Case Examples -- 1.5.1. Case 1 -- 1.5.2. Case 2 -- 1.6. Discussion Questions -- 1.7. Further Reading -- Chapter 2: Gastrointestinal Cancer Syndromes -- 2.1. Anatomy -- 2.1.1. Mouth and Pharynx (Throat) -- 2.1.2. Esophagus -- 2.1.3. Stomach -- 2.1.4. Small Intestine -- 2.1.5. Pancreas -- 2.1.6. Biliary Tract -- 2.1.7. Colon and Rectum -- 2.2. Colorectal Cancer -- 2.3. Gastric (Stomach) Cancer -- 2.4. Pancreatic Cancer -- 2.5. Lynch Syndrome -- 2.5.1. Background -- 2.5.2. Mechanism -- 2.5.3. Diagnostic Criteria -- 2.5.4. Cancer Risks -- 2.5.5. Other Clinical Features -- 2.5.6. Syndrome Subtypes -- 2.5.7. Genetic Testing -- 2.5.8. Medical Management -- 2.6. Familial Adenomatous Polyposis/Attenuated Familial Adenomatous Polyposis -- 2.6.1. Background -- 2.6.2. Mechanism -- 2.6.3. Diagnostic Criteria -- 2.6.4. Cancer Risks -- 2.6.5. Other Clinical Features -- 2.6.6. Syndrome Subtypes -- 2.6.7. Genetic Testing -- 2.6.8. Medical Management -- 2.7. MUTYH-Associated Polyposis -- 2.7.1. Background -- 2.7.2. Mechanism -- 2.7.3. Diagnostic Criteria -- 2.7.4. Cancer Risks -- 2.7.5. Other Clinical Features -- 2.7.6. Syndrome Subtypes -- 2.7.7. Genetic Testing -- 2.7.8. Medical Management.
2.8. NTHL1 Tumor Syndrome -- 2.8.1. Background -- 2.8.2. Mechanism -- 2.8.3. Diagnostic Criteria -- 2.8.4. Cancer Risks -- 2.8.5. Other Clinical Features -- 2.8.6. Syndrome Subtypes -- 2.8.7. Genetic Testing -- 2.8.8. Medical Management -- 2.9. Polymerase Proofreading-Associated Polyposis Syndrome -- 2.9.1. Background -- 2.9.2. Mechanism -- 2.9.3. Diagnostic Criteria -- 2.9.4. Cancer Risks -- 2.9.5. Other Clinical Features -- 2.9.6. Syndrome Subtypes -- 2.9.7. Genetic Testing -- 2.9.8. Medical Management -- 2.10. Juvenile Polyposis Syndrome -- 2.10.1. Background -- 2.10.2. Mechanism -- 2.10.3. Diagnostic Criteria -- 2.10.4. Cancer Risks -- 2.10.5. Other Clinical Features -- 2.10.6. Syndrome Subtypes -- 2.10.7. Genetic Testing -- 2.10.8. Medical Management -- 2.11. Peutz-Jeghers Syndrome -- 2.11.1. Background -- 2.11.2. Mechanism -- 2.11.4. Cancer Risks -- 2.11.5. Other Clinical Features -- 2.11.6. Syndrome Subtypes -- 2.11.7. Genetic Testing -- 2.11.8. Medical Management -- 2.12. PTEN Hamartoma Tumor Syndromes -- 2.12.1. Background -- 2.12.2. Mechanism -- 2.12.3. Diagnostic Criteria -- 2.12.4. Cancer Risks -- 2.12.5. Other Clinical Features -- 2.12.6. Syndrome Subtypes -- 2.12.7. Genetic Testing -- 2.12.8. Medical Management -- 2.13. Hereditary Mixed Polyposis Syndrome -- 2.13.1. Background -- 2.13.2. Mechanism -- 2.13.3. Diagnostic Criteria -- 2.13.4. Cancer Risks -- 2.13.5. Other Clinical Features -- 2.13.6. Syndrome Subtypes -- 2.13.7. Genetic Testing -- 2.13.8. Medical Management -- 2.14. Serrated Polyposis Syndrome -- 2.14.1. Background -- 2.14.2. Mechanism -- 2.14.3. Diagnostic Criteria -- 2.14.4. Cancer Risks -- 2.14.5. Other Clinical Features -- 2.14.6. Syndrome Subtypes -- 2.14.7. Genetic Testing -- 2.14.8. Medical Management -- 2.15. Hereditary Diffuse Gastric Cancer Syndrome -- 2.15.1. Background -- 2.15.2. Mechanism.
2.15.3. Diagnostic Criteria -- 2.15.4. Cancer Risks -- 2.15.5. Other Clinical Features -- 2.15.6. Syndrome Subtypes -- 2.15.7. Genetic Testing -- 2.15.8. Medical Management -- 2.16. Familial Atypical Multiple Mole Melanoma Syndrome -- 2.16.1. Background -- 2.16.2. Mechanism -- 2.16.3. Diagnostic Criteria -- 2.16.4. Cancer Risks -- 2.16.5. Other Clinical Features -- 2.16.6. Syndrome Subtypes -- 2.16.7. Genetic Testing -- 2.16.8. Medical Management -- 2.17. Hereditary Pancreatitis/Familial Pancreatitis -- 2.17.1. Background -- 2.17.2. Mechanism -- 2.17.3. Diagnostic Criteria -- 2.17.4. Other Clinical Features -- 2.17.5. Cancer Risks -- 2.17.6. Genetic Testing -- 2.17.7. Syndrome Subtypes -- 2.17.8. Medical Management -- 2.18. Short Reviews -- 2.18.1. Li-Fraumeni Syndrome -- 2.18.2. Gastric Adenocarcinoma and Proximal Polyposis of the Stomach -- 2.18.3. Familial Intestinal Gastric Cancer -- 2.18.4. BRCA2-AssociatedGastric Cancer -- 2.18.5. Pancreatic Neuroendocrine Tumor Syndromes -- 2.18.6. Liver (hepato-)/Gallbladder (cholangio-) Cancer Syndromes -- 2.18.7. Esophageal Cancer Syndromes -- 2.18.8. Other Rare Noninherited Gastrointestinal Tract Syndromes -- 2.19. Further Reading -- Chapter 3 Breast and Gynecological Cancer Syndromes -- 3.1. Anatomy -- 3.1.1. The Breast -- 3.1.2. The Gynecological System -- 3.2. Overview of Counseling Issues -- 3.2.1. Clinical Management Issues -- 3.2.2. Timing of Testing -- 3.2.3. Documentation of Exact Tumor Type -- 3.2.4. Syndrome Overlap -- 3.3. Selected Breast and Gynecologic Syndromes -- 3.3.1. ATM Heterozygous Carriers -- 3.3.2. Hereditary Breast and Ovarian Cancer Syndrome (HBOC) -- 3.3.3. BRIP1 Heterozygous Carriers -- 3.3.4. CHEK2 Pathogenic Variant Carriers -- 3.3.5. Hereditary Diffuse Gastric Cancer (HDGC) (see also Section 2.15) -- 3.3.6. Li-Fraumeni Syndrome (LFS) (see also Section 5.2.12).
3.3.7. Lynch Syndrome (see also Section 2.5.2.) -- 3.3.8. Neurofibromatosis (NF1) (see also Section 4.3.9) -- 3.3.9. PALB2 Heterozygous Carriers -- 3.3.10. Peutz-Jeghers Syndrome (PJS) -- 3.3.11. PTEN Hamartoma Tumor Syndrome (PHTS) (Also Cowden Syndrome -- Includes Bannayan-Riley-Ruvalcaba Syndrome and Proteus Syndrome) -- 3.3.12. RAD51C Heterozygous Carriers -- 3.3.13. RAD51D Pathogenic Variant Carriers -- 3.4. Case Examples -- 3.4.1. Case 1 -- 3.4.2. Case 2 -- 3.5. Discussion Questions -- 3.6. Further Reading -- Chapter 4 Rare Tumor Predisposition Syndromes -- 4.1. Overview of Rare Tumor Syndromes -- 4.1.1. The Syndrome Is Defined by Unusual and/or Uncommon Cancers -- 4.1.2. The Presence of a Tumor in the Proband Is Sufficient to Consider the Syndrome -- 4.1.3. Benign Tumors and Nontumor Findings are Often Prominent Features of the Syndrome -- 4.1.4. Bilateral Tumors or Multiple Tumor Primaries Occur More Frequently -- 4.1.5. Most Syndromes Are Autosomal Dominant with Incomplete Penetrance -- 4.2. Overview of Counseling Issues with Rare Tumor Syndromes -- 4.2.1. Documentation of the Exact Tumor Type Is Key -- 4.2.2. Limited Published Data Available About the Syndrome -- 4.2.3. Less Awareness About the Possible Genetic Link and About Testing -- 4.2.4. No One Has Heard of the Syndrome That the Patient Has -- 4.2.5. The Patient's Family May Not Be Interested in Hearing About the Syndrome -- 4.3. Clinical Features of Selected Rare Tumor Syndromes -- 4.3.1. BAP1 Tumor Predisposition Syndrome (includes COMMON syndrome) -- 4.3.2. Birt-Hogg-Dubé Syndrome -- 4.3.3. Familial Atypical Multiple Mole Melanoma Syndrome (includes Nevus Syndrome, and Melanoma-Astrocytoma Syndrome) -- 4.4. Case Examples -- 4.4.1. Case 1: Counseling About Melanoma and Mesothelioma -- 4.4.2. Case 2: Counseling About Small Cell Lung Cancer -- 4.5. Discussion Questions.
4.6. Further Reading -- Chapter 5 Pediatric Tumor Predisposition Syndromes -- 5.1. Counseling Issues -- 5.1.1. There Is Often More Than One "Patient" in the Room -- 5.1.2. The Family Is Often in a State of Acute Crisis -- 5.1.3. Obtaining Assent and Consent for Testing -- 5.1.4. Cases May Be More Complicated Than Adult Cases -- 5.1.5. Issues May Be More Acutely Emotional -- 5.1.6. The Pediatric Oncology Team Is More "Hands On" -- 5.1.7. Complex Counseling Situations Frequently Arise -- 5.1.8. Special Challenges with Potential Bone Marrow Transplant Patients -- 5.2. Pediatric Tumor Predisposition Syndromes -- 5.2.1. Ataxia Telangiectasia -- 5.2.2. Autoimmune Lymphoproliferative Syndrome (Also Canale-Smith Syndrome) -- 5.2.3. Beckwith-Wiedemann Syndrome (Also Beckwith-Wiedemann Spectrum (BWSp) -- Exomphalos Macroglossia Gigantism [EMG] Syndrome) -- 5.2.4. Bloom Syndrome -- 5.2.5. Constitutional Mismatch Repair Deficiency Syndrome -- 5.2.6. Diamond-Blackfan Anemia -- 5.2.7. DICER1 Tumor Predisposition Syndrome (DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome) -- 5.2.8. Dyskeratosis Congenita (Also called Telomere Biology Disorders) -- 5.2.9. Fanconi Anemia -- 5.2.10. Juvenile Polyposis -- 5.2.11. Leukemia Predisposition Syndromes -- 5.2.12. Li-Fraumeni Syndrome -- 5.2.13. Neuroblastoma, Familial -- 5.2.14. Retinoblastoma, Hereditary -- 5.2.15. Rhabdoid Tumor Predisposition Syndrome -- 5.2.16. Rothmund-Thomson Syndrome (also called Poikiloderma congenitale) -- 5.2.17. Shwachman-Diamond Syndrome -- 5.2.18. Tuberous Sclerosis Complex (TSC) -- 5.2.19. WT1-Related Syndrome (Includes Denys-Drash Syndrome, Frasier Syndrome, WAGR Syndrome) -- 5.2.20. Xeroderma Pigmentosum (Includes XP/CS Complex, XP Variant) -- 5.3. Case Examples -- 5.3.1. Case 1: Counseling About an Eye Tumor -- 5.3.2. Case 2: Counseling About a Pulmonary Lesion.
5.4. Discussion Questions.
Record Nr. UNINA-9910830174903321
Schneider Katherine A.  
Hoboken, NJ : , : Wiley-Blackwell, , [2023]
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui