Atlas of genetic diagnosis and counseling:
"A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis,...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Totowa, NJ
Humana Press
2006
|
| Schlagworte: | |
| Online-Zugang: | Table of contents Klappentext |
| Zusammenfassung: | "A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies"--Back cover. |
| Beschreibung: | Includes bibliographical references |
| Beschreibung: | XI, 1076 S. zahlr. Ill. |
| ISBN: | 1588296814 |
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| 100 | 1 | |a Chen, Harold |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Atlas of genetic diagnosis and counseling |c Harold Chen |
| 264 | 1 | |a Totowa, NJ |b Humana Press |c 2006 | |
| 300 | |a XI, 1076 S. |b zahlr. Ill. | ||
| 336 | |b txt |2 rdacontent | ||
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| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Includes bibliographical references | ||
| 520 | 3 | |a "A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies"--Back cover. | |
| 650 | 4 | |a Conseil génétique - Atlas | |
| 650 | 4 | |a Maladies héréditaires - Diagnostic - Atlas | |
| 650 | 4 | |a Genetic disorders |x Diagnosis |v Atlases | |
| 650 | 4 | |a Genetic counseling |v Atlases | |
| 650 | 4 | |a Genetic Diseases, Inborn |v Atlases | |
| 650 | 4 | |a Genetic Counseling |v Atlases | |
| 650 | 4 | |a Prenatal Diagnosis |v Atlases | |
| 650 | 0 | 7 | |a Diagnose |0 (DE-588)4012040-5 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| _version_ | 1804134544931028992 |
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| adam_text | AÜasof
GENETIC
Harold Chen,
Professor
Louisiana State University Health Science Center, Shreveport, LA
Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly
diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost
in a comprehensive pictorial atlas of
outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including
recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics,
and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the
optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics,
biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN:
Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling
genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.
FEATURES
Pictorial review of
and malformation syndromes
Numerous color photographs illustrating clinical features
and diagnostic strategies
Easy-to-use outline format details genetics, clinical features,
and diagnostic tests
Discussion of counseling issues, recurrence risk, prenatal
diagnosis, and management
Extensive up-to-date literature review for each disorder
Also available in a CD-ROM edition
CONTENTS
Acardia
Achondrogenesis
Achondroplasia
Adams-Oliver Syndrome
Agnathia
Aicardi Syndrome
Alagille Syndrome
Albinism
Amniotic
Androgen Insensitívify
Syndrome
Angelman
Apert
Aplasia
Arthrogryposis Multiplex
Congenita
Asphyxiating Thoracic
Dystrophy
Congenital Generalized
Lipodystrophy
Congenital Hydrocephalus
Congenital Hypothyroidism
Congenital Muscular Dystrophy
Congenital Toxoplasmosis
Conjoined Twins
Corpus Callosum Agenesis/
Fibrodysplasia Ossificans
Atelosteogenesis
Autism
Beckwith-Wiedemann
Syndrome
Behcet Disease
Bladder Exstrophy
Body Stalk Anomaly
Branchial Cleft Anomalies
Campomelic Dysplasia
Cat Eye Syndrome
Cerebro-Costo-Mandibular
Syndrome
Charcot-Marie-Tooth Disease
CHARGE Association
Cherubism
Chiari
Chondrodysplasia
Chromosome Abnormalities
in
Cleft Lip and or Palate
Cleidocranial Dysplasia
Cloacal
Collodion Baby
Congenital Adrenal
Hyperplasia
Congenital
Congenital Cytomegalovirus
Infection
Craniometaphyseal
Dysplasia
Cri-Du-Chat Syndrome
Crouzon Syndrome
Cystic Fibrosis
Dandy-Walker Malformation
De Lange
Del (22ql
Diabetic Embryopathy
Down Syndrome
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
Fariogenitai (Aarskog)
Dysplasia
Facioscapulohumeral
Muscular Dystrophy
Familial Adenomatous
Polyposis
Familial Hyperlysinemia
Fanconi Anemia
Femoral Hypoplasia-Unusual
Fades Syndrome
Fetal
Fetal Alcohol Syndrome
Fetal Hydantoin Syndrome
Finlay-Marks Syndrome
Fragile X Syndrome
Fraser
Freeman-Sheldon Syndrome
Frontonasal Dysplasia
Galactosemia
Gastroschisis
Gaucher
Generalized Arterial
Calcification of Infancy
Glucos-ö-Phosphate
Dehydrogenase Deficiency
Glycogen Storage Disease,
ТуреП
Goldenhar Syndrome
Hallermann-Streiff Syndrome
Harlequin Ichthyosis
Hemophilia A
Hereditary Hemochromatosis
Hereditary Multiple
Exostoses
Holoprosencephaly
Holt-Oram Syndrome
Hydrops Fetalis
Hyper-IgE Syndrome
Hypochondroplasia
Hypoglossia-Hypodactylia
Syndrome
Hypohidrotic Ectodermal
Lesch-Nyhan Syndrome
Lethal Multiple Pterygium
Syndrome
Lowe Syndrome
Marfan
McCune-Albright Syndrome
Meckel-Gruber Syndrome
Menkes
Metachromatic Leukodystrophy
Miller-Dieker Syndrome
Möbius
Mucolipidosis II (I-Cell
Hypomelanosis of
Hypophosphatasia
Incontinentia
Infantile Myofibromatosis
Ivemark Syndrome
Jarcho-Levin Syndrome
Kabuki
Kassbach-Merritt Syndrome
KID Syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay Syndrome
Kniest
Larsen Syndrome
LEOPARD Syndrome
Mucolipidosis III (Pseudo-
Hurler Polydystrophy)
MPSI
MPS II (Hunter Syndrome)
MPS III (Sanfffippo
Syndrome)
MPS
MPS VI (Maroteaux-Lamy
Syndrome)
Multiple Epiphyseal
Dysplasia
Multiple Pterygium
Syndrome
Myotonie
Netherton Syndrome
Neu-Laxova Syndrome
Neural Tube Defects
Neurofibromatosis I
Noonan Syndrome
Oblique Facial Cleft
Syndrome
Oligohydramnios Sequence
Omphalocele
Osteogenesis
Osteopetrosis
Pachyonychia
Paffister-Kfflian Syndrome
PhenylketonuriaÍPKÜ)
Pierre Robin Sequence
Polycystic Kidney Disease,
AD Type
Polycystic Kidney Disease,
AR
Prader-Willi Syndrome
Progeria
Prune Belly Syndrome
Pseudoachondroplasia
R(18) Syndrome
Retinoid Embryopathy
Rett
Rickets
Roberts Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Schizencephaly
Schmid
Chondrodysplasia
Seekel
Severe Combined Immune
Deficiency
Short Rib Polydactyly
Syndromes
Sickle Cell Disease
Sāver-Russel
Sirenomelia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos
Spinal Muscular Atrophy
Spondyloepiphyseal
Dysplasia
Stickler Syndrome
Sturge-Weber Syndrome
Тау
Tetrasomy 9p Syndrome
Thalassemia
Thanatophoric Dysplasia
Thrombocytopem a-Absent
Radius Syndrome
Treacher-Collins Syndrome
Trimethylaminuria
Triploidy
Trismus Pseudocamptodactyly
Syndrome
Trisomy
Trisomy
Tuberous Sclerosis
Turner Syndrome
Twin-Twin Transfusion
Syndrome
Ulnar-Mammary Syndrome
VATER (VACTERL)
Association
Von Hippel-Lindau
Waardenburg
Williams Syndrome
Wolf-Hirschhorn Syndrome
Х
XXX
XXXXX Syndrome
XXXXY Syndrome
XY Female
XYY Syndrome
|
| adam_txt |
AÜasof
GENETIC
Harold Chen,
Professor
Louisiana State University Health Science Center, Shreveport, LA
Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly
diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost
in a comprehensive pictorial atlas of
outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including
recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics,
and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the
optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics,
biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN:
Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling
genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.
FEATURES
Pictorial review of
and malformation syndromes
Numerous color photographs illustrating clinical features
and diagnostic strategies
Easy-to-use outline format details genetics, clinical features,
and diagnostic tests
Discussion of counseling issues, recurrence risk, prenatal
diagnosis, and management
Extensive up-to-date literature review for each disorder
Also available in a CD-ROM edition
CONTENTS
Acardia
Achondrogenesis
Achondroplasia
Adams-Oliver Syndrome
Agnathia
Aicardi Syndrome
Alagille Syndrome
Albinism
Amniotic
Androgen Insensitívify
Syndrome
Angelman
Apert
Aplasia
Arthrogryposis Multiplex
Congenita
Asphyxiating Thoracic
Dystrophy
Congenital Generalized
Lipodystrophy
Congenital Hydrocephalus
Congenital Hypothyroidism
Congenital Muscular Dystrophy
Congenital Toxoplasmosis
Conjoined Twins
Corpus Callosum Agenesis/
Fibrodysplasia Ossificans
Atelosteogenesis
Autism
Beckwith-Wiedemann
Syndrome
Behcet Disease
Bladder Exstrophy
Body Stalk Anomaly
Branchial Cleft Anomalies
Campomelic Dysplasia
Cat Eye Syndrome
Cerebro-Costo-Mandibular
Syndrome
Charcot-Marie-Tooth Disease
CHARGE Association
Cherubism
Chiari
Chondrodysplasia
Chromosome Abnormalities
in
Cleft Lip and'or Palate
Cleidocranial Dysplasia
Cloacal
Collodion Baby
Congenital Adrenal
Hyperplasia
Congenital
Congenital Cytomegalovirus
Infection
Craniometaphyseal
Dysplasia
Cri-Du-Chat Syndrome
Crouzon Syndrome
Cystic Fibrosis
Dandy-Walker Malformation
De Lange
Del (22ql
Diabetic Embryopathy
Down Syndrome
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
Fariogenitai (Aarskog)
Dysplasia
Facioscapulohumeral
Muscular Dystrophy
Familial Adenomatous
Polyposis
Familial Hyperlysinemia
Fanconi Anemia
Femoral Hypoplasia-Unusual
Fades Syndrome
Fetal
Fetal Alcohol Syndrome
Fetal Hydantoin Syndrome
Finlay-Marks Syndrome
Fragile X Syndrome
Fraser
Freeman-Sheldon Syndrome
Frontonasal Dysplasia
Galactosemia
Gastroschisis
Gaucher
Generalized Arterial
Calcification of Infancy
Glucos-ö-Phosphate
Dehydrogenase Deficiency
Glycogen Storage Disease,
ТуреП
Goldenhar Syndrome
Hallermann-Streiff Syndrome
Harlequin Ichthyosis
Hemophilia A
Hereditary Hemochromatosis
Hereditary Multiple
Exostoses
Holoprosencephaly
Holt-Oram Syndrome
Hydrops Fetalis
Hyper-IgE Syndrome
Hypochondroplasia
Hypoglossia-Hypodactylia
Syndrome
Hypohidrotic Ectodermal
Lesch-Nyhan Syndrome
Lethal Multiple Pterygium
Syndrome
Lowe Syndrome
Marfan
McCune-Albright Syndrome
Meckel-Gruber Syndrome
Menkes
Metachromatic Leukodystrophy
Miller-Dieker Syndrome
Möbius
Mucolipidosis II (I-Cell
Hypomelanosis of
Hypophosphatasia
Incontinentia
Infantile Myofibromatosis
Ivemark Syndrome
Jarcho-Levin Syndrome
Kabuki
Kassbach-Merritt Syndrome
KID Syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay Syndrome
Kniest
Larsen Syndrome
LEOPARD Syndrome
Mucolipidosis III (Pseudo-
Hurler Polydystrophy)
MPSI
MPS II (Hunter Syndrome)
MPS III (Sanfffippo
Syndrome)
MPS
MPS VI (Maroteaux-Lamy
Syndrome)
Multiple Epiphyseal
Dysplasia
Multiple Pterygium
Syndrome
Myotonie
Netherton Syndrome
Neu-Laxova Syndrome
Neural Tube Defects
Neurofibromatosis I
Noonan Syndrome
Oblique Facial Cleft
Syndrome
Oligohydramnios Sequence
Omphalocele
Osteogenesis
Osteopetrosis
Pachyonychia
Paffister-Kfflian Syndrome
PhenylketonuriaÍPKÜ)
Pierre Robin Sequence
Polycystic Kidney Disease,
AD Type
Polycystic Kidney Disease,
AR
Prader-Willi Syndrome
Progeria
Prune Belly Syndrome
Pseudoachondroplasia
R(18) Syndrome
Retinoid Embryopathy
Rett
Rickets
Roberts Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Schizencephaly
Schmid
Chondrodysplasia
Seekel
Severe Combined Immune
Deficiency
Short Rib Polydactyly
Syndromes
Sickle Cell Disease
Sāver-Russel
Sirenomelia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos
Spinal Muscular Atrophy
Spondyloepiphyseal
Dysplasia
Stickler Syndrome
Sturge-Weber Syndrome
Тау
Tetrasomy 9p Syndrome
Thalassemia
Thanatophoric Dysplasia
Thrombocytopem'a-Absent
Radius Syndrome
Treacher-Collins Syndrome
Trimethylaminuria
Triploidy
Trismus Pseudocamptodactyly
Syndrome
Trisomy
Trisomy
Tuberous Sclerosis
Turner Syndrome
Twin-Twin Transfusion
Syndrome
Ulnar-Mammary Syndrome
VATER (VACTERL)
Association
Von Hippel-Lindau
Waardenburg
Williams Syndrome
Wolf-Hirschhorn Syndrome
Х
XXX
XXXXX Syndrome
XXXXY Syndrome
XY Female
XYY Syndrome |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Chen, Harold |
| author_facet | Chen, Harold |
| author_role | aut |
| author_sort | Chen, Harold |
| author_variant | h c hc |
| building | Verbundindex |
| bvnumber | BV020838641 |
| callnumber-first | R - Medicine |
| callnumber-label | RB155 |
| callnumber-raw | RB155.6 |
| callnumber-search | RB155.6 |
| callnumber-sort | RB 3155.6 |
| callnumber-subject | RB - Pathology |
| classification_rvk | WG 7300 XG 2300 |
| ctrlnum | (OCoLC)57731393 (DE-599)BVBBV020838641 |
| dewey-full | 616/.042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616/.042 |
| dewey-search | 616/.042 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| discipline_str_mv | Biologie Medizin |
| format | Book |
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| genre | (DE-588)4143303-8 Atlas gnd-content |
| genre_facet | Atlas |
| id | DE-604.BV020838641 |
| illustrated | Illustrated |
| index_date | 2024-07-02T13:15:45Z |
| indexdate | 2024-07-09T20:26:18Z |
| institution | BVB |
| isbn | 1588296814 |
| language | English |
| lccn | 2005005388 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-014160552 |
| oclc_num | 57731393 |
| open_access_boolean | |
| owner | DE-20 DE-355 DE-BY-UBR |
| owner_facet | DE-20 DE-355 DE-BY-UBR |
| physical | XI, 1076 S. zahlr. Ill. |
| publishDate | 2006 |
| publishDateSearch | 2006 |
| publishDateSort | 2006 |
| publisher | Humana Press |
| record_format | marc |
| spelling | Chen, Harold Verfasser aut Atlas of genetic diagnosis and counseling Harold Chen Totowa, NJ Humana Press 2006 XI, 1076 S. zahlr. Ill. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references "A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies"--Back cover. Conseil génétique - Atlas Maladies héréditaires - Diagnostic - Atlas Genetic disorders Diagnosis Atlases Genetic counseling Atlases Genetic Diseases, Inborn Atlases Genetic Counseling Atlases Prenatal Diagnosis Atlases Diagnose (DE-588)4012040-5 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genetische Beratung (DE-588)4020129-6 gnd rswk-swf Pränatale Diagnostik (DE-588)4047000-3 gnd rswk-swf (DE-588)4143303-8 Atlas gnd-content Erbkrankheit (DE-588)4015106-2 s Diagnose (DE-588)4012040-5 s DE-604 Genetische Beratung (DE-588)4020129-6 s Pränatale Diagnostik (DE-588)4047000-3 s http://www.loc.gov/catdir/toc/ecip058/2005005388.html Table of contents Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014160552&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Chen, Harold Atlas of genetic diagnosis and counseling Conseil génétique - Atlas Maladies héréditaires - Diagnostic - Atlas Genetic disorders Diagnosis Atlases Genetic counseling Atlases Genetic Diseases, Inborn Atlases Genetic Counseling Atlases Prenatal Diagnosis Atlases Diagnose (DE-588)4012040-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetische Beratung (DE-588)4020129-6 gnd Pränatale Diagnostik (DE-588)4047000-3 gnd |
| subject_GND | (DE-588)4012040-5 (DE-588)4015106-2 (DE-588)4020129-6 (DE-588)4047000-3 (DE-588)4143303-8 |
| title | Atlas of genetic diagnosis and counseling |
| title_auth | Atlas of genetic diagnosis and counseling |
| title_exact_search | Atlas of genetic diagnosis and counseling |
| title_exact_search_txtP | Atlas of genetic diagnosis and counseling |
| title_full | Atlas of genetic diagnosis and counseling Harold Chen |
| title_fullStr | Atlas of genetic diagnosis and counseling Harold Chen |
| title_full_unstemmed | Atlas of genetic diagnosis and counseling Harold Chen |
| title_short | Atlas of genetic diagnosis and counseling |
| title_sort | atlas of genetic diagnosis and counseling |
| topic | Conseil génétique - Atlas Maladies héréditaires - Diagnostic - Atlas Genetic disorders Diagnosis Atlases Genetic counseling Atlases Genetic Diseases, Inborn Atlases Genetic Counseling Atlases Prenatal Diagnosis Atlases Diagnose (DE-588)4012040-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetische Beratung (DE-588)4020129-6 gnd Pränatale Diagnostik (DE-588)4047000-3 gnd |
| topic_facet | Conseil génétique - Atlas Maladies héréditaires - Diagnostic - Atlas Genetic disorders Diagnosis Atlases Genetic counseling Atlases Genetic Diseases, Inborn Atlases Genetic Counseling Atlases Prenatal Diagnosis Atlases Diagnose Erbkrankheit Genetische Beratung Pränatale Diagnostik Atlas |
| url | http://www.loc.gov/catdir/toc/ecip058/2005005388.html http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014160552&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT chenharold atlasofgeneticdiagnosisandcounseling |