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20041111115200.0 |
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030328s2004 nyua b 001 0 eng |
| 010 |
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|a 2003048693
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|a 019514502X (cloth : alk. paper)
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| 040 |
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|a DNLM/DLC
|c DLC
|d DLC
|d NhCcYBP
|d OCoLC
|d OrLoB-B
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| 042 |
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|a pcc
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| 050 |
0 |
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|a RB155.5
|b .I536 2004
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1 |
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|a QZ 50
|b I35 2004
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| 082 |
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|a 616/.042
|2 21
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|a Inborn errors of development :
|b the molecular basis of clinical disorders on morphogenesis /
|c edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris.
|
| 260 |
|
|
|a New York :
|b Oxford University Press,
|c 2004.
|
| 300 |
|
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|a xxiv, 1082 p. :
|b ill. (some col.) ;
|c 29 cm.
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|0 http://id.loc.gov/vocabulary/contentTypes/txt
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| 337 |
|
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|a unmediated
|b n
|2 rdamedia
|0 http://id.loc.gov/vocabulary/mediaTypes/n
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| 338 |
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|a volume
|b nc
|2 rdacarrier
|0 http://id.loc.gov/vocabulary/carriers/nc
|
| 440 |
|
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|a Oxford monographs on medical genetics ;
|v no. 49
|
| 504 |
|
|
|a Includes bibliographical references and index.
|
| 505 |
0 |
0 |
|g 1.
|t Human Malformations and Their Genetic Basis /
|r Charles J. Epstein --
|g 2.
|t General Principles of Differentiation and Morphogenesis /
|r Scott F. Gilbert --
|g 3.
|t Model Organisms in the Study of Development and Disease /
|r Ethan Bier and William McGinnis --
|g 4.
|t Consequences of the Genome Project for Understanding Development /
|r David W. Mount --
|g 5.
|t Developmental Origins of the Mammalian Body Plan /
|r Michael M. Shen and Roger A. Pedersen --
|g 6.
|t Neural Crest Formation and Craniofacial Development /
|r Deborah Lang, Christopher B. Brown and Jonathan A. Epstein --
|g 7.
|t Development of the Nervous System /
|r John L. R. Rubenstein and Luis Puelles --
|g 8.
|t Development of the Ear /
|r Donna M. Fekete --
|g 9.
|t Development of the Heart and Vasculogenesis /
|r Wolfgang Rottbauer and Mark C. Fishman --
|g 10.
|t Development of Muscle and Somites /
|r Alan Rawls and Jerry M. Rhee --
|g 11.
|t Development of Bone and Cartilage /
|r Shunichi Murakami, Haruhiko Akiyama and Benoit de Crombrugghe --
|g 12.
|t Development of the Limbs /
|r Sahar Nissim and Cliff Tabin --
|g 13.
|t Development of the Genitourinary System /
|r Dylan Steer, Kazuhito Fukuoka, Stanley A. Mendoza and Sanjay K. Nigam --
|g 14.
|t Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut /
|r Ben Z. Stanger and Douglas A. Melton --
|g 15.
|t Development of Epidermal Appendages: Teeth and Hair /
|r Atsushi Ohazama and Paul T. Sharpe --
|g 16.
|t An Introduction to Sonic Hedgehog Signaling /
|r M. Michael Cohen, Jr. --
|g 17.
|t DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis /
|r Mira Irons --
|g 18.
|t SHH and Holoprosencephaly /
|r M. Michael Cohen, Jr. --
|g 19.
|t PTCH and the Basal Cell Nevus (Gorlin) Syndrome /
|r Ervin Epstein, Jr. --
|g 20.
|t GL13 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes /
|r Leslie G. Biesecker --
|g 21.
|t SALLI and the Townes-Brocks Syndrome /
|r Jurgen Kohlhase and Wolfgang Engel --
|g 22.
|t Wnt Signaling Pathways /
|r Laird C. Sheldahl and Randall T. Moon --
|g 23.
|t WISP3 and Progressive Pseudorheumatoid Dysplasia /
|r Wafaa Suwairi and Matthew L. Warman --
|g 24.
|t An Introduction to TGF-[beta]-Related Signaling /
|r Anna Petryk and Michael B. O'Connor --
|g 25.
|t NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis /
|r Matthew L. Warman --
|g 26.
|t ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies /
|r Stephanie M. Ware and John W. Belmont --
|g 27.
|t CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C /
|r Michael W. Kilpatrick and Petros Tsipouras --
|g 28.
|t ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis /
|r Douglas A. Marchuk and Jonathan N. Berg --
|g 29.
|t RUNX2 and Cleidocranial Dysplasia /
|r Brendan Lee and Guang Zhou --
|g 30.
|t Signaling by TNF and Related Ligands /
|r Pascals Schneider --
|g 31.
|t EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway /
|r Jonathan Zonana --
|g 32.
|t Molecular and Cellular Biology of FGF Signaling /
|r David Givol, Veraragavan, P. Eswarakumar and Peter Lonai --
|g 33.
|t FGFs/FGFRs and Associated Disorders /
|r M. Michael Cohen, Jr. --
|g 34.
|t TWIST and the Saethre-Chotzen Syndrome /
|r Ethylin Wang Jabs --
|g 35.
|t Signaling Pathways of Glial Cell-Derived Neurotrophic Factor /
|r Louis F. Reichardt --
|g 36.
|t RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2 /
|r Andrew S. McCallion and Aravinda Chakravarti --
|g 37.
|t Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways /
|r Cheryl E. Gariepy and Masashi Yanagisawa --
|g 38.
|t EDNRB, END3, and SOX10 and the Shah-Waardenburg Syndrome /
|r Joke B. G. M. Verheij and Robert M. W. Hofstra --
|g 39.
|t Introduction to Notch Signaling /
|r Alison Miyamoto and Gerry Weinmaster --
|g 40.
|t JAG1 and the Alagille Syndrome /
|r Nancy B. Spinner and Ian D. Krantz --
|g 41.
|t DLL3 and Spondylocostal Dysostosis /
|r Peter D. Turnpenny and Kenro Kusumi --
|g 42.
|t Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal /
|r Robert P. Erickson --
|g 43.
|t SOX9 and Campomelic Dysplasia and Sex Reversal /
|r Sahar Mansour --
|g 44.
|t AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives /
|r Jean-Yves Picard --
|g 45.
|t DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal /
|r Eric Vilain and Edward R. B. McCabe --
|g 46.
|t The Role of Hox and Dlx Gene Clusters in Evolution and Development /
|r Frank H. Ruddle --
|g 47.
|t HOXD13 and Synpolydactyly /
|r Frances R. Goodman and Peter J. Scambler --
|g 48.
|t HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes /
|r Jeffrey W. Innis --
|g 49.
|t Transcription Factors Involved in Disorders of Forebrain and Pituitary Development /
|r Kathryn Woods and Mehul T. Dattani --
|g 50.
|t IDX1 and Pancreatic Agenesis and Type 2 Diabetes /
|r Melissa K. Thomas and Joel F. Habener --
|g 51.
|t MSX1 and Partial Anodonita, Orofacial Clefting, and the Witkop Syndrome /
|r Marie-Jose H. van den Boogaard --
|g 52.
|t MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification /
|r Ulrich Muller --
|g 53.
|t SHOX and Dyschondrosteosis and the Turner Syndrome /
|r Jay W. Ellison --
|g 54.
|t HLXB9 and Sacral Agenesis and the Currarino Syndrome /
|r Stephen Scherer, Giuseppe Martucciello, Elena Belloni and Michele Torre --
|g 55.
|t EYA1 and the Branchio-Oto-Renal Syndrome /
|r Robert T. Moy and Richard L. Maas --
|g 56.
|t PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis /
|r Elena V. Semina --
|g 57.
|t CSX/NKX2-5 and Congenital Heart Disease /
|r Patrick Y. Jay, Andrew J. Powell, Megan C. Sherwood and Siego Izumo --
|g 58.
|t LMX1B and the Nail Patella Syndrome /
|r Brendan Lee and Roy Morello --
|g 59.
|t Introduction to Paired-Box Genes /
|r Petros Petrou and Peter Gruss --
|g 60.
|t PAX2 and the Renal-Coloboma Syndrome /
|r Michael R. Eccles --
|g 61.
|t PAX3 and the Waardenburg Syndrome Type 1 /
|r Andrew Read --
|g 62.
|t PAX6 and Aniridia and Related Phenotypes /
|r Veronica van Heyningen and Kathleen Williamson --
|g 63.
|t PAX9 and Hypodontia /
|r Pragna I. Patel and Donald T. Brown --
|g 64.
|t Introduction to Forkhead Genes /
|r Naoyuki Miura, Tao Wang and Tomoki Tamakoshi --
|g 65.
|t FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome /
|r Ramsey A. Saleem, Fred B. Berry and Michael A. Walter --
|g 66.
|t FOXC2 and Lymphedema Distichiasis /
|r Robert P. Erickson --
|g 67.
|t Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways /
|r Virgina E. Papaioannou and Sarah N. Goldin --
|g 68.
|t TBX1 and the DiGeorge Syndrome Critical Region /
|r Scott E. Klewer, Raymond B. Runyan and Robert P. Erickson --
|g 69.
|t TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes /
|r Michael J. Bamshad and Lynne B. Jorde --
|g 70.
|t Mechanisms of Regulated Gene Transcription /
|r Michael G. Rosenfeld, Kristen Jepsen, Ola Hermanson and Christopher K. Glass --
|g 71.
|t CBP and the Rubinstein-Taybi Syndrome /
|r Fred Petrij, Martijn H. Breuning, Raoul C. M. Hennekam and Rachel H. Giles --
|g 72.
|t ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome /
|r Richard J. Gibbons and Takahito Wada --
|g 73.
|t IFG2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome /
|r Michael R. DeBaun and Andrew P. Feinberg --
|g 74.
|t 15q11-13 and the Prader-Willi Syndrome /
|r Shawn E. McCandless and Suzanne B. Cassidy --
|g 75.
|t DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome /
|r Deborah Bourc'his, Francoise Ledeist and Evani Viegas-Pequignot --
|g 76.
|t RSK2 and the Coffin-Lowry Syndrome /
|r Maria Zeniou, Sylvie Jacquot, Jean-Pierre Delaunoy and Andre Hanauer --
|g 77.
|t MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes /
|r Masayoshi Tachibana --
|g 78.
|t POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) /
|r Frans P. M. Cremers and Cor W. R. J. Cremers --
|g 79.
|t TFAP2B and the Char Syndrome /
|r Masahiko Satoda and Bruce D. Gelb --
|
| 505 |
8 |
0 |
|g 80.
|t An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis /
|r Peter K. Jackson --
|g 81.
|t UBE3A and the Angelman Syndrome /
|r Joseph Wagstaff --
|g 82.
|t VHL and von Hippel-Lindau Disease /
|r Eamonn R. Maher --
|g 83.
|t MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes /
|r Leslie G. Biesecker --
|g 84.
|t An Introduction to Guanine Nucleotide-Binding Proteins /
|r Sarah E. Newey and Linda Van Aelst --
|g 85.
|t GNAS an McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB /
|r Lee S. Weinstein --
|g 86.
|t FGDI and Faciogenital Dysplasia (Aarskog-Scott Syndrome) /
|r Jerome L. Gorski --
|g 87.
|t NF1 and Neurofibromatosis 1 /
|r Laura A. Jansen and David H. Gutmann --
|g 88.
|t ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome /
|r Michael Oldridge and Andrew O. M. Wilkie --
|g 89.
|t PTPN11 and the Noonan Syndrome /
|r Marco Tartaglia and Bruce D. Gelb --
|g 90.
|t Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration /
|r Anthony Wynshaw-Boris --
|g 91.
|t TSC1 and TSC2 and Tuberous Sclerosis /
|r David J. Kwiatkowski --
|g 92.
|t LIS1 and DCX and Classical Lissencephaly /
|r Joseph G. Gleeson --
|g 93.
|t RELN and Lissencephaly with Cerebellar Hypoplasia /
|r Christopher A. Walsh --
|g 94.
|t DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome /
|r Michal Witt --
|g 95.
|t Extracellular Matrix and Signaling during Development /
|r Scott B. Selleck and Sally E. Stringer --
|g 96.
|t GPC3 and the Simpson-Golabi-Behmel Syndrome /
|r Scott Saunders, Rick A. Martin and Michael R. DeBaun --
|g 97.
|t HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type /
|r Sophie Nicole and Bertrand Fontaine --
|g 98.
|t LICAM and X-Linked Hydrocephalus /
|r Connie Schrander-Stumpel and Jean-Pierre Fryns --
|g 99.
|t COMP and Pseudoachondroplasia /
|r Daniel H. Cohn --
|g 100.
|t MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome /
|r Oonagh Dowling and John A. Martignetti --
|g 101.
|t Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors /
|r Miikka Vikkula, Marika J. Karkkainen and Kari Alitalo --
|g 102.
|t VEGFR3 and Milroy Disease /
|r Robert E. Ferrell and David N. Finegold --
|g 103.
|t KCNJ2 (Kir2.1) and Andersen Syndrome /
|r David R. Renner, Rabi Tawil, Martin Tristani-Firouzi and Louis J. Ptacek --
|g 104.
|t ANKH and Craniometaphyseal Dysplasia /
|r Peter Nurnberg and Sigrid Tinschert --
|g 105.
|t 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) /
|r Michael J. Bamshad --
|g 106.
|t TCOF1 (Treacle) and the Treacher Collins Syndrome /
|r Jill Dixon and Michael J. Dixon --
|g 107.
|t LMBR1 and Acheiropodia and Preaxial Polydactyly /
|r Petros Tsipouras and Michael W. Kilpatrick --
|g 108.
|t BBS Genes and the Bardet-Biedl Syndrome /
|r Val C. Sheffield, Elise Heon, Edwin M. Stone and Rivka Carmi.
|
| 650 |
|
0 |
|a Genetic disorders.
|0 http://id.loc.gov/authorities/subjects/sh87001834
|
| 650 |
|
0 |
|a Developmental disabilities
|x Genetic aspects.
|
| 650 |
|
0 |
|a Genetic disorders in children.
|0 http://id.loc.gov/authorities/subjects/sh85023439
|
| 650 |
|
0 |
|a Developmental genetics.
|0 http://id.loc.gov/authorities/subjects/sh85037356
|
| 650 |
1 |
2 |
|a Abnormalities
|x genetics.
|
| 650 |
1 |
2 |
|a Genetic Diseases, Inborn
|x genetics.
|
| 650 |
2 |
2 |
|a Human Development.
|
| 650 |
|
7 |
|a Developmental disabilities
|x Genetic aspects.
|2 fast
|0 http://id.worldcat.org/fast/fst00891792
|
| 650 |
|
7 |
|a Developmental genetics.
|2 fast
|0 http://id.worldcat.org/fast/fst00891808
|
| 650 |
|
7 |
|a Genetic disorders.
|2 fast
|0 http://id.worldcat.org/fast/fst00940009
|
| 650 |
|
7 |
|a Genetic disorders in children.
|2 fast
|0 http://id.worldcat.org/fast/fst00940025
|
| 700 |
1 |
|
|a Epstein, Charles J.
|0 http://id.loc.gov/authorities/names/n79064111
|1 http://viaf.org/viaf/32057403
|
| 700 |
1 |
|
|a Erickson, Robert P.,
|d 1939-
|0 http://id.loc.gov/authorities/names/n89143686
|1 http://viaf.org/viaf/32174883
|
| 700 |
1 |
|
|a Wynshaw-Boris, Anthony Joseph.
|0 http://id.loc.gov/authorities/names/n87834536
|1 http://viaf.org/viaf/5265315
|
| 901 |
|
|
|a ToCBNA
|
| 903 |
|
|
|a HeVa
|
| 035 |
|
|
|a (OCoLC)52030626
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| 929 |
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|a cat
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| 928 |
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|t Library of Congress classification
|a RB155.5 .I536 2004
|l JCL
|c JCL-Sci
|i 6476797
|
| 927 |
|
|
|t Library of Congress classification
|a RB155.5 .I536 2004
|l JCL
|c JCL-Sci
|e MARO
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|b 65341119
|i 7605250
|
