skip to content
Inborn errors of development : the molecular basis of clinical disorders of morphogenesis Preview this item
ClosePreview this item
Checking...

Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

Author: Charles J Epstein; Robert P Erickson; Anthony Joseph Wynshaw-Boris
Publisher: Oxford ; New York : Oxford University Press, 2004.
Series: Oxford monographs on medical genetics, no. 49.
Edition/Format:   Print book : EnglishView all editions and formats
Database:WorldCat
Summary:
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical  Read more...
Rating:

(not yet rated) 0 with reviews - Be the first.

Subjects
More like this

 

Find a copy online

Links to this item

Find a copy in the library

&AllPage.SpinnerRetrieving; Finding libraries that hold this item...

Details

Material Type: Internet resource
Document Type: Book, Internet Resource
All Authors / Contributors: Charles J Epstein; Robert P Erickson; Anthony Joseph Wynshaw-Boris
ISBN: 019514502X 9780195145021
OCLC Number: 52030626
Description: xxiv, 1082 pages : illustrations (some color) ; 29 cm.
Contents: 1. Human Malformations and Their Genetic Basis / Charles J. Epstein --
2. General Principles of Differentiation and Morphogenesis / Scott F. Gilbert --
3. Model Organisms in the Study of Development and Disease / Ethan Bier and William McGinnis --
4. Consequences of the Genome Project for Understanding Development / David W. Mount --
5. Developmental Origins of the Mammalian Body Plan / Michael M. Shen and Roger A. Pedersen --
6. Neural Crest Formation and Craniofacial Development / Deborah Lang, Christopher B. Brown and Jonathan A. Epstein --
7. Development of the Nervous System / John L.R. Rubenstein and Luis Puelles --
8. Development of the Ear / Donna M. Fekete --
9. Development of the Heart and Vasculogenesis / Wolfgang Rottbauer and Mark C. Fishman --
10. Development of Muscle and Somites / Alan Rawls and Jerry M. Rhee --
11. Development of Bone and Cartilage / Shunichi Murakami, Haruhiko Akiyama and Benoit de Crombrugghe --
12. Development of the Limbs / Sahar Nissim and Cliff Tabin --
13. Development of the Genitourinary System / Dylan Steer, Kazuhito Fukuoka, Stanley A. Mendoza and Sanjay K. Nigam --
14. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut / Ben Z. Stanger and Douglas A. Melton --
15. Development of Epidermal Appendages: Teeth and Hair / Atsushi Ohazama and Paul T. Sharpe --
16. Introduction to Sonic Hedgehog Signaling / M. Michael Cohen, Jr. --
17. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis / Mira Irons --
18. SHH and Holoprosencephaly / M. Michael Cohen, Jr. --
19. PTCH and the Basal Cell Nevus (Gorlin) Syndrome / Ervin Epstein, Jr. --
20. GL13 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes / Leslie G. Biesecker --
21. SALLI and the Townes-Brocks Syndrome / Jurgen Kohlhase and Wolfgang Engel. 22. Wnt Signaling Pathways / Laird C. Sheldahl and Randall T. Moon --
23. WISP3 and Progressive Pseudorheumatoid Dysplasia / Wafaa Suwairi and Matthew L. Warman --
24. Introduction to TGF-[beta]-Related Signaling / Anna Petryk and Michael B. O'Connor --
25. NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis / Matthew L. Warman --
26. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies / Stephanie M. Ware and John W. Belmont --
27. CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C / Michael W. Kilpatrick and Petros Tsipouras --
28. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis / Douglas A. Marchuk and Jonathan N. Berg --
29. RUNX2 and Cleidocranial Dysplasia / Brendan Lee and Guang Zhou --
30. Signaling by TNF and Related Ligands / Pascals Schneider --
31. EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway / Jonathan Zonana --
32. Molecular and Cellular Biology of FGF Signaling / David Givol, Veraragavan, P. Eswarakumar and Peter Lonai --
33. FGFs/FGFRs and Associated Disorders / M. Michael Cohen, Jr. --
34. TWIST and the Saethre-Chotzen Syndrome / Ethylin Wang Jabs --
35. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor / Louis F. Reichardt --
36. RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2 / Andrew S. McCallion and Aravinda Chakravarti --
37. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways / Cheryl E. Gariepy and Masashi Yanagisawa --
38. EDNRB, END3, and SOX10 and the Shah-Waardenburg Syndrome / Joke B.G.M. Verheij and Robert M.W. Hofstra --
39. Introduction to Notch Signaling / Alison Miyamoto and Gerry Weinmaster. 40. JAG1 and the Alagille Syndrome / Nancy B. Spinner and Ian D. Krantz --
41. DLL3 and Spondylocostal Dysostosis / Peter D. Turnpenny and Kenro Kusumi --
42. Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal / Robert P. Erickson --
43. SOX9 and Campomelic Dysplasia and Sex Reversal / Sahar Mansour --
44. AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives / Jean-Yves Picard --
45. DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal / Eric Vilain and Edward R.B. McCabe --
46. Role of Hox and Dlx Gene Clusters in Evolution and Development / Frank H. Ruddle --
47. HOXD13 and Synpolydactyly / Frances R. Goodman and Peter J. Scambler --
48. HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes / Jeffrey W. Innis --
49. Transcription Factors Involved in Disorders of Forebrain and Pituitary Development / Kathryn Woods and Mehul T. Dattani --
50. IDX1 and Pancreatic Agenesis and Type 2 Diabetes / Melissa K. Thomas and Joel F. Habener --
51. MSX1 and Partial Anodonita, Orofacial Clefting, and the Witkop Syndrome / Marie-Jose H. van den Boogaard --
52. MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification / Ulrich Muller --
53. SHOX and Dyschondrosteosis and the Turner Syndrome / Jay W. Ellison --
54. HLXB9 and Sacral Agenesis and the Currarino Syndrome / Stephen Scherer, Giuseppe Martucciello, Elena Belloni and Michele Torre --
55. EYA1 and the Branchio-Oto-Renal Syndrome / Robert T. Moy and Richard L. Maas --
56. PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis / Elena V. Semina --
57. CSX/NKX2-5 and Congenital Heart Disease / Patrick Y. Jay, Andrew J. Powell, Megan C. Sherwood and Siego Izumo. 58. LMX1B and the Nail Patella Syndrome / Brendan Lee and Roy Morello --
59. Introduction to Paired-Box Genes / Petros Petrou and Peter Gruss --
60. PAX2 and the Renal-Coloboma Syndrome / Michael R. Eccles --
61. PAX3 and the Waardenburg Syndrome Type 1 / Andrew Read --
62. PAX6 and Aniridia and Related Phenotypes / Veronica van Heyningen and Kathleen Williamson --
63. PAX9 and Hypodontia / Pragna I. Patel and Donald T. Brown --
64. Introduction to Forkhead Genes / Naoyuki Miura, Tao Wang and Tomoki Tamakoshi --
65. FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome / Ramsey A. Saleem, Fred B. Berry and Michael A. Walter --
66. FOXC2 and Lymphedema Distichiasis / Robert P. Erickson --
67. Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways / Virgina E. Papaioannou and Sarah N. Goldin --
68. TBX1 and the DiGeorge Syndrome Critical Region / Scott E. Klewer, Raymond B. Runyan and Robert P. Erickson --
69. TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes / Michael J. Bamshad and Lynne B. Jorde --
70. Mechanisms of Regulated Gene Transcription / Michael G. Rosenfeld, Kristen Jepsen, Ola Hermanson and Christopher K. Glass --
71. CBP and the Rubinstein-Taybi Syndrome / Fred Petrij, Martijn H. Breuning, Raoul C.M. Hennekam and Rachel H. Giles --
72. ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome / Richard J. Gibbons and Takahito Wada --
73. IFG2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome / Michael R. DeBaun and Andrew P. Feinberg --
74. 15q11-13 and the Prader-Willi Syndrome / Shawn E. McCandless and Suzanne B. Cassidy --
75. DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome / Deborah Bourc'his, Francoise Ledeist and Evani Viegas-Pequignot. 76. RSK2 and the Coffin-Lowry Syndrome / Maria Zeniou, Sylvie Jacquot, Jean-Pierre Delaunoy and Andre Hanauer --
77. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes / Masayoshi Tachibana --
78. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) / Frans P.M. Cremers and Cor W.R.J. Cremers --
79. TFAP2B and the Char Syndrome / Masahiko Satoda and Bruce D. Gelb --
80. Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis / Peter K. Jackson --
81. UBE3A and the Angelman Syndrome / Joseph Wagstaff --
82. VHL and von Hippel-Lindau Disease / Eamonn R. Maher --
83. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes / Leslie G. Biesecker --
84. Introduction to Guanine Nucleotide-Binding Proteins / Sarah E. Newey and Linda Van Aelst --
85. GNAS an McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB / Lee S. Weinstein --
86. FGDI and Faciogenital Dysplasia (Aarskog-Scott Syndrome) / Jerome L. Gorski --
87. NF1 and Neurofibromatosis 1 / Laura A. Jansen and David H. Gutmann --
88. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome / Michael Oldridge and Andrew O.M. Wilkie --
89. PTPN11 and the Noonan Syndrome / Marco Tartaglia and Bruce D. Gelb --
90. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration / Anthony Wynshaw-Boris --
91. TSC1 and TSC2 and Tuberous Sclerosis / David J. Kwiatkowski --
92. LIS1 and DCX and Classical Lissencephaly / Joseph G. Gleeson --
93. RELN and Lissencephaly with Cerebellar Hypoplasia / Christopher A. Walsh --
94. DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome / Michal Witt. 95. Extracellular Matrix and Signaling during Development / Scott B. Selleck and Sally E. Stringer --
96. GPC3 and the Simpson-Golabi-Behmel Syndrome / Scott Saunders, Rick A. Martin and Michael R. DeBaun --
97. HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type / Sophie Nicole and Bertrand Fontaine --
98. LICAM and X-Linked Hydrocephalus / Connie Schrander-Stumpel and Jean-Pierre Fryns --
99. COMP and Pseudoachondroplasia / Daniel H. Cohn --
100. MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome / Oonagh Dowling and John A. Martignetti --
101. Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors / Miikka Vikkula, Marika J. Karkkainen and Kari Alitalo --
102. VEGFR3 and Milroy Disease / Robert E. Ferrell and David N. Finegold --
103. KCNJ2 (Kir2.1) and Andersen Syndrome / David R. Renner, Rabi Tawil, Martin Tristani-Firouzi and Louis J. Ptacek --
104. ANKH and Craniometaphyseal Dysplasia / Peter Nurnberg and Sigrid Tinschert --
105. p63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), and Acro-Dermato-Ungual-Lacrimal-Digit (ADULT) Syndromes an Ectrodactyly (Split Hand/Foot Malformation) / Michael J. Bamshad --
106. TCOF1 (Treacle) and the Treacher Collins Syndrome / Jill Dixon and Michael J. Dixon --
107. LMBR1 and Acheiropodia and Preaxial Polydactyly / Petros Tsipouras and Michael W. Kilpatrick --
108. BBS Genes and the Bardet-Biedl Syndrome / Val C. Sheffield, Elise Heon, Edwin M. Stone and Rivka Carmi.
Series Title: Oxford monographs on medical genetics, no. 49.
Responsibility: edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris.
More information:

Abstract:

This volume presents an in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. After reviewing the development of tissues and organ  Read more...

Reviews

Editorial reviews

Publisher Synopsis

"This book is first in making the leap from a classic catalog of malformations, syndromes, sequences, and associations to an organized approach to molecular analysis of patterns of morphogenesis." Read more...

 
User-contributed reviews
Retrieving GoodReads reviews...
Retrieving DOGObooks reviews...

Tags

Be the first.
Confirm this request

You may have already requested this item. Please select Ok if you would like to proceed with this request anyway.

Linked Data


Primary Entity

<http://www.worldcat.org/oclc/52030626> # Inborn errors of development : the molecular basis of clinical disorders of morphogenesis
    a schema:Book, schema:CreativeWork ;
   library:oclcnum "52030626" ;
   library:placeOfPublication <http://id.loc.gov/vocabulary/countries/enk> ;
   library:placeOfPublication <http://dbpedia.org/resource/New_York_City> ; # New York
   library:placeOfPublication <http://experiment.worldcat.org/entity/work/data/866295019#Place/oxford> ; # Oxford
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/genetic_diseases_inborn_genetics> ; # Genetic Diseases, Inborn--genetics
   schema:about <http://id.worldcat.org/fast/940025> ; # Genetic disorders in children
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/developmental_disabilities_genetic_aspects> ; # Developmental disabilities--Genetic aspects
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/congenital_abnormalities_genetics> ; # Congenital Abnormalities--genetics
   schema:about <http://dewey.info/class/616.042/e21/> ;
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/aangeboren_afwijkingen> ; # Aangeboren afwijkingen
   schema:about <http://id.worldcat.org/fast/891792> ; # Developmental disabilities--Genetic aspects
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/morfogenese> ; # Morfogenese
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/human_development> ; # Human Development
   schema:about <http://experiment.worldcat.org/entity/work/data/866295019#Topic/teratogenese> ; # Teratogenese
   schema:about <http://id.worldcat.org/fast/891808> ; # Developmental genetics
   schema:about <http://id.worldcat.org/fast/940009> ; # Genetic disorders
   schema:bookFormat bgn:PrintBook ;
   schema:contributor <http://viaf.org/viaf/32057403> ; # Charles J. Epstein
   schema:contributor <http://experiment.worldcat.org/entity/work/data/866295019#Person/erickson_robert_p_1939> ; # Robert P. Erickson
   schema:contributor <http://experiment.worldcat.org/entity/work/data/866295019#Person/wynshaw_boris_anthony_joseph> ; # Anthony Joseph Wynshaw-Boris
   schema:datePublished "2004" ;
   schema:description "In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them."@en ;
   schema:exampleOfWork <http://worldcat.org/entity/work/id/866295019> ;
   schema:inLanguage "en" ;
   schema:isPartOf <http://experiment.worldcat.org/entity/work/data/866295019#Series/oxford_monographs_on_medical_genetics> ; # Oxford monographs on medical genetics ;
   schema:name "Inborn errors of development : the molecular basis of clinical disorders of morphogenesis"@en ;
   schema:productID "52030626" ;
   schema:publication <http://www.worldcat.org/title/-/oclc/52030626#PublicationEvent/oxford_new_york_oxford_university_press_2004> ;
   schema:publisher <http://experiment.worldcat.org/entity/work/data/866295019#Agent/oxford_university_press> ; # Oxford University Press
   schema:url <http://catdir.loc.gov/catdir/enhancements/fy0614/2003048693-t.html> ;
   schema:url <http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=010306434&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA> ;
   schema:workExample <http://worldcat.org/isbn/9780195145021> ;
   umbel:isLike <http://bnb.data.bl.uk/id/resource/GBA3U3392> ;
   wdrs:describedby <http://www.worldcat.org/title/-/oclc/52030626> ;
    .


Related Entities

<http://dbpedia.org/resource/New_York_City> # New York
    a schema:Place ;
   schema:name "New York" ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Agent/oxford_university_press> # Oxford University Press
    a bgn:Agent ;
   schema:name "Oxford University Press" ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Person/erickson_robert_p_1939> # Robert P. Erickson
    a schema:Person ;
   schema:birthDate "1939" ;
   schema:familyName "Erickson" ;
   schema:givenName "Robert P." ;
   schema:name "Robert P. Erickson" ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Person/wynshaw_boris_anthony_joseph> # Anthony Joseph Wynshaw-Boris
    a schema:Person ;
   schema:familyName "Wynshaw-Boris" ;
   schema:givenName "Anthony Joseph" ;
   schema:name "Anthony Joseph Wynshaw-Boris" ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Series/oxford_monographs_on_medical_genetics> # Oxford monographs on medical genetics ;
    a bgn:PublicationSeries ;
   schema:hasPart <http://www.worldcat.org/oclc/52030626> ; # Inborn errors of development : the molecular basis of clinical disorders of morphogenesis
   schema:name "Oxford monographs on medical genetics ;" ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Topic/aangeboren_afwijkingen> # Aangeboren afwijkingen
    a schema:Intangible ;
   schema:name "Aangeboren afwijkingen"@en ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Topic/congenital_abnormalities_genetics> # Congenital Abnormalities--genetics
    a schema:Intangible ;
   schema:name "Congenital Abnormalities--genetics"@en ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Topic/developmental_disabilities_genetic_aspects> # Developmental disabilities--Genetic aspects
    a schema:Intangible ;
   schema:hasPart <http://id.loc.gov/authorities/subjects/sh85037355> ;
   schema:name "Developmental disabilities--Genetic aspects"@en ;
    .

<http://experiment.worldcat.org/entity/work/data/866295019#Topic/genetic_diseases_inborn_genetics> # Genetic Diseases, Inborn--genetics
    a schema:Intangible ;
   schema:name "Genetic Diseases, Inborn--genetics"@en ;
    .

<http://id.worldcat.org/fast/891792> # Developmental disabilities--Genetic aspects
    a schema:Intangible ;
   schema:name "Developmental disabilities--Genetic aspects"@en ;
    .

<http://id.worldcat.org/fast/891808> # Developmental genetics
    a schema:Intangible ;
   schema:name "Developmental genetics"@en ;
    .

<http://id.worldcat.org/fast/940009> # Genetic disorders
    a schema:Intangible ;
   schema:name "Genetic disorders"@en ;
    .

<http://id.worldcat.org/fast/940025> # Genetic disorders in children
    a schema:Intangible ;
   schema:name "Genetic disorders in children"@en ;
    .

<http://viaf.org/viaf/32057403> # Charles J. Epstein
    a schema:Person ;
   schema:familyName "Epstein" ;
   schema:givenName "Charles J." ;
   schema:name "Charles J. Epstein" ;
    .

<http://worldcat.org/isbn/9780195145021>
    a schema:ProductModel ;
   schema:isbn "019514502X" ;
   schema:isbn "9780195145021" ;
    .

<http://www.worldcat.org/title/-/oclc/52030626>
    a genont:InformationResource, genont:ContentTypeGenericResource ;
   schema:about <http://www.worldcat.org/oclc/52030626> ; # Inborn errors of development : the molecular basis of clinical disorders of morphogenesis
   schema:dateModified "2016-05-12" ;
   void:inDataset <http://purl.oclc.org/dataset/WorldCat> ;
    .


Content-negotiable representations

Close Window

Please sign in to WorldCat 

Don't have an account? You can easily create a free account.