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    Inborn errors of development.
    Epstein's inborn errors of development : the molecular basis of clinical disorders of morphogenesis / edited by Robert P. Erickson, Anthony Wynshaw-Boris.

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    • Title:[Inborn errors of development.]
      Epstein's inborn errors of development : the molecular basis of clinical disorders of morphogenesis / edited by Robert P. Erickson, Anthony Wynshaw-Boris.
    •    
    • Other Contributors/Collections:Erickson, Robert P., 1939- editor.
      Wynshaw-Boris, Anthony Joseph, editor.
    • Published/Created:New York : Oxford University Press, [2016]
      ©2016

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    • Library of Congress Subjects:Genetic disorders.
      Developmental disabilities--Genetic aspects.
      Genetic disorders in children.
      Developmental genetics.
    • Medical Subjects: Genetic Diseases, Inborn--genetics.
      Congenital Abnormalities--genetics.
      Morphogenesis--genetics.
    • Edition:Third edition.
    • Description:xlvii, 1, 497 : illustrations ; 29 cm
    • Series:Oxford monographs on medical genetics ; no. 67.
    • Notes:Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
      Includes bibliographical references and index.
    • ISBN:9780199934522
      0199934525
    • Contents:Machine generated contents note: 1. Human Malformations and Their Genetic Basis
      2. Principles of Differentiation and Morphogenesis / Charles J. Epstein
      3. Model Organisms in the Study of Development and Disease / Ritva Rice / Scott F. Gilbert
      4. Human Genomics and Human Development / William McGinnis / Ethan Bier
      5. Development of Left-Right Asymmetry / Robert Nussbaum
      6. Neural Crest Formation and Craniofacial Development / Hiroshi Hamada
      7. Development of the Nervous System / Jonathan A. Epstein / Kurt A. Engleka
      8. Development of the Eye / Luis Puelles / John L.R. Rubenstein
      9. Development of the Ear / David C. Beebe
      10. Molecular Regulation of Cardiogenesis / Donna M. Fekete
      11. Update on the Development of the Vascular System and Its Sporadic Disorders / Joseph T.C. Shieh / Deepak Srivastava
      12. Muscle and Somite Development / M. Michael Cohen Jr
      13. Development of Bone and Cartilage / Alan Rawls / Douglas M. Anderson
      14. Limb Development / Shunichi Murakami / Benoit De Crombrugghe / Haruhiko Akiyama
      15. Sex-Determination Pathway / Sigmar Stricker / Malte Spielmann
      16. Development of the Kidney / Robert P Erickson / Peter J. Ellis
      17. Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut / Kevin T. Bush / Mita M. Shah / Sanjay K. Nigam / Derina E. Sweeney / Dylan L. Steer
      18. Development of Epidermal Appendages: Teeth and Hair / Ben Z. Stanger
      A. Ciliary Functions: Genesis, Transport, and Reabsorbtion / Paul T. Sharpe / Atsushi Ohazama
      19. Primary Ciliary Dyskinesia (Kartagener Syndrome) / Paul T. Sharpe / Atsushi Ohazama
      20. Molecular Basis of Joubert Syndrome and Related Disorders / Zuzanna Bukowy-Bieryllo / Michal Witt
      21. Bardet-Biedl Syndrome / Joseph G. Gleeson / Jeong Ho Lee
      22. Molecular Basis of Oral-Facial-Digital Type I Syndrome / Val C. Sheffield / Qihong Zhang / Rivka Carmi / Arlene V. Drack / Edwin M. Stone / Elise Heon
      23. Meckel Syndrome / Brunella Franco
      24. From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene / Peter C. Harris / Amanda Leightner
      25. Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy / Tania Attie-Bitach / Ferechte Encha Razavi
      26. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes / Anna Latos-Bielenska / Joanna Walczak-Sztulpa
      B. Sonic Hedgehog Signaling Pathway / Leslie G. Biesecker
      27. Hedgehog Signaling Network / Leslie G. Biesecker
      28. Smith-Lemli-Opitz Syndrome / M. Michael Cohen Jr
      29. SHH and Holoprosencephaly / Mira B. Irons / Wen-Hann Tan
      30. IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1 / Khosrow S. Houschyar / Jill A. Helms / Andrew A. Smith
      31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome / Geert R. Mortier / Jan Hellemans
      32. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes / Ervin Epstein Jr
      33. SALLI and the Townes-Brocks Syndrome / Leslie G. Biesecker
      34. MYCN and Feingold Syndrome / Jürgen Kohlhase
      35. Preaxial Polydactyly Type 2 and Associated Limb Defects / Han G. Brunner / Hans Van Bokhoven
      C. Wnt Signaling Pathway / Laura Lettice / Robert Hill
      36. Wnt Signaling Pathway / Laura Lettice / Robert Hill
      37. AXIN2, Tooth Agenesis, and Colorectal Cancer / Kimberly A. Mulligan / Benjamin N.R. Cheyette
      38. WNT3 and Tetra-Amelia / Pekka Nieminen / Heikki J. Järvinen / Laura Lammi
      39. ROR2, Brachydactyly Type B, and Recssive Robinow Syndrome / Stephan Niemann
      40. Cenani-Lenz Syndrome / Andrew O.M. Wilkie
      41. Goltz Syndrome (Focal Dermal Hypoplasia) / Bernd Wollnik / Nina Bögershausen
      42. WNT10A and Odonto-Onycho-Dermal Dysplasia / V. Reid Sutton / Ignatia B. Van Den Veyver
      43. Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome / Hala Mégarbané / André Mégarbané
      44. AXIN1 and Caudal Duplication Anomaly / Geoff Woods
      D. Planar Cell Polarity (PCP) Pathway / Suyinn Chong / Christine R. Zhang
      45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects / Suyinn Chong / Christine R. Zhang
      A. TGF-β Signaling Pathway / Elena Torban / Philippe Gros / Alexandra Iliescu
      46. Introduction to TGF-β Family Signaling / Elena Torban / Philippe Gros / Alexandra Iliescu
      47. NOG and Proximal Symphalangism (SYM I), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis / Tamara Alliston / Jacqueline Nguyen
      48. NODAL Signaling and Heterotaxy / Stefan Mundlos
      49. ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) / John W. Belmont / Stephanie M. Ware
      50. RUNX2 and Cleidocranial Dysplasia / Sudha Srinivasan / Douglas A. Marchuk / Jonathan N. Berg
      51. AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome / Lindsay C. Burrage / Dobrawa Napierala / Brendan H. Lee / Yangjin Bae
      52. LEMD3 and Osteopoikilosis, the Buschke-011endorff Syndrome and Melorheostosis / Jean-Yves Picard
      53. TGFBR 1/2 and Loeys-Dietz Syndrome / Geert R. Mortier / Jan Hellemans
      54. ZEB2 and Mowat-Wilson Syndrome / Harry C. Dietz / Bart L. Loeys
      55. LTBP4 and Autosomal Recessive Cutis Laxa Type IC / Meredith Wilson / David Mowat / Irina Giurgea
      56. ACVR1 and Fibrodysplasia Ossificans Progressiva / Zsolt Urban
      57. Role of the Latent TGF-β Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities / Frederick S. Kaplan / Eileen M. Shore / O.W. Towler
      B. TNF Signaling Pathway / Muhammad Ayub / John B. Vincent / Abdul Noor
      58. Signaling by TNF and Related Ligands / Muhammad Ayub / John B. Vincent / Abdul Noor
      59. Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias / Pascal Schneider
      C. FGF Signaling Pathway / Kenneth Huttner / Jonathan Zonana
      60. Molecular and Cellular Biology of FGF Signaling / Kenneth Huttner / Jonathan Zonana
      61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes / Jacob V.P. Eswarakumar
      62. FGF 10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome / Andrew O.M. Wilkie
      63. TWIST1 and the Saethre-Chotzen Syndrome / Jeff M. Milunsky
      64. FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital (Kallmann) Syndrome / Jeff M. Milunsky
      65. TIE2 (TEK) and Venous Malformation / Catherine Dodé / Jean-Pierre Hardelin
      66. FLT4 (VEGFR3) and Milroy Disease / Nisha Limaye / Melanie Uebelhoer / Miikka Vikkula / John B. Mulliken / Laurence M. Boon
      67. Focal Facial Dermal Dysplasias / Robert E. Ferrell / Catherine J. Baty / David N. Finegold
      D. Glia Cell-Derived Neurotrophic Factor Signaling / Anne M. Slavotinek / Robert J. Desnick / Beom Hee Lee
      68. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor / Anne M. Slavotinek / Robert J. Desnick / Beom Hee Lee
      69. RET Mutation and Function in HSCR, MEN2, and Other Cancers / Louis Reichardt
      E. Introduction To Endothelin-B Receptor And SOX10 Pathways / Sumantra Chatterjee / Aravinda Chakravarti / Andrew S. McCallion / Zachary E. Stine
      70. Introduction to Endothelin-B Receptor and SOX101 Pathways / Sumantra Chatterjee / Aravinda Chakravarti / Andrew S. McCallion / Zachary E. Stine
      71. EDNRB, EDN3, SOX10, and the Shah-Waardenburg Syndrome (WS4) / Cheryl E. Gariepy / Monalee Saha
      F. Notch Signaling Pathway / Robert M.W. Hofstra / Joke B.G.M. Verheij
      72. Introduction to Notch Signaling / Robert M.W. Hofstra / Joke B.G.M. Verheij
      73. JAG1 and NOTCH2 and the Alagille Syndrome / Gerry Weinmaster / Alison Miyamoto
      74. DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis / Nancy B. Spinner / Ian D. Krantz / Alexandra M. Falsey / Laura D. Leonard
      G. PI3K-LKB1 Pathway / Peter D. Turnpenny / Sally L. Dunwoodie / Kenro Kusumi
      75. PI3K-LKB1 Pathway / Peter D. Turnpenny / Sally L. Dunwoodie / Kenro Kusumi
      76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba Syndromes / Lewis C. Cantley / Reuben J. Shaw
      77. STK11 (LKB1) and Peutz-Jeghers Syndrome / Charis Eng / Pauline Funchain
      78. TSC1, TSC2, and Tuberous Sclerosis / Stylianos E. Antonarakis
      H. RAS/ERK/MAPK Pathway / David J. Kwiatkowski
      79. RAS Pathway / David J. Kwiatkowski
      80. Neurofibromatosis Type 1 / David Viskochil / Jeffrey Swensen
      81. Noonan Syndrome and RAS Signaling Defects / David H. Gutmann / Heather Riordan
      82. HRAS and Costello Syndrome / Bruce D. Gelb / Marco Tartaglia
      83. Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome / Yoichi Matsubara / Yoko Aoki
      84. RASA1 and Capillary Malformation-Arteriovenous Malformation / Katherine A. Rauen
      85. SPRED1 and Legius Syndrome / Nicole Revencu / Laurence M. Boon / John B. Mulliken / Miikka Vikkula
      I. EPH/Ephrin Signaling / Eric Legius / Hilde Brems / Ludwine Messiaen
      86. Introduction to Eph/Ephiin Signaling in Vertebrate Development / Ludwine Messiaen / Eric Legius / Hilde Brems
      87. Craniofrontona sal Syndrome and EFNB1 Mutations / Audrey K. O'Neill / Jeffrey O. Bush
      A. Homeobox Gene Family / Peter Wieacker / Judit Horvath
      88. Role of Hox and Dlx Gene Clusters in Evolution and Development / Peter Wieacker / Judit Horvath
      89. HOXA1 Deficiency Syndrome / Frank H. Ruddle
      90. HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis / Max A. Tischfield / Elizabeth C. Engle / Robert P. Erickson
      Contents note continued: 91. HOXA13 Hand-Foot-Genital Syndrome and Guttmacher Syndrome / Amy E. Geddis
      92. HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities / Jeffrey W. Innis
      93. HOXD13 and Synpolydactyly / Antony E. Shrimpton / E. Mark Levinsohn
      94. EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia / Frances R. Goodman / Peter J. Scambler
      95. PDX1, Pancreatic Agenesis, and Type 2 Diabetes / Daniel Kelberman / Mehul T. Dattani
      96. MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome / Melissa K. Thomas / Joel F. Habener
      97. MSX2 in Craniosynostosis and Defects of Skull Ossification / Marie-José H. Van Den Boogaard / Hans-Kristian Ploos Van Amstel
      98. SHOX, Dyschondrosteosis, and Turner Syndrome / Mamoru Ishii / Ulrich Muller / Robert Maxson
      99. HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome / Jay W. Ellison
      100. Branchio-Oto-Renal (BOR) Syndrome / Stephen Scherer / Margherita Lerone / Giuseppe Martucciello / Elena Belloni
      101. PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment / Fowzan S. Alkuraya / Richard L. Maas
      102. NKX2-5 and Congenital Heart Disease / Linda M. Reis / Elena V. Semina
      103. LMX1B and the Nail-Patella Syndrome / Avihu Z. Gazit / Susan N. Foerster / Patrick Y. Jay
      104. ALX Homeobox Gene Family and Frontonasal Dysplasias / Philippe M. Campeau / Nadejda A. Bespalova / Brendan H. Lee
      105. Simplex and Complex Microphthalmia Genes-OTX2, RAX, VSX2, VAX1, SIX6, and HMX1 / Arda Cetinkaya / Nurten A. Akarsu
      106. PRRX1 / Anne M. Slavotinek
      107. Developmental Abnormalities Due to Mutations in the Aristaless-Related Homeobox Gene / Joy Samanich / Elaine Pereira
      108. PITX1-Associated Congenital Lower Limb Malformations / Cheryl Shoubridge / Michael Field / Richard J. Leventer / Jozef Gecz
      B. Paired Box (PAX) Gene Family / Matthew B. Dobbs / Christina A. Gurnett
      109. Paired Box (PAX) Gene Family: Introduction to Paired Box Genes / Matthew B. Dobbs / Christina A. Gurnett
      110. PAX2 and the Renal-Coloboma Syndrome / Peter Gruss / Petros P. Petrou / Caiyun G. Li / Cherie Stayner / Michael R. Eccles
      111. PAX3 and Waardenburg Syndrome Type 1 / Michael R. Eccles / Matthew Bower / Lisa A. Schimmenti
      112. PAX6, Aniridia, and Related Phenotypes / Kirby A. Ziegler / Gareth N. Corry / D. Alan Underhill
      113. PAX9 Hypodontia / Veronica Van Heyningen / Kathleen Williamson
      C. Forkhead Gene Family / Pragna I. Patel / Donald T. Brown
      114. Introduction to Forkhead Genes / Donald T. Brown / Pragna I. Patel
      115. FOXC1, FOXL2, the Axenfeld-Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome / Naoyuki Miura
      116. FOXC2, FOXF 1., and the 16q24.1-Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes / Michael A. Walter / Fred B. Berry
      117. FOXE1: Bamforth-Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer Predisposition / Robert P. Erickson
      118. AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome / Masaru Katoh / Masuko Katoh / Michel Polak / Aurore Carré / Mireille Castanet
      D. T-Box Gene Family / Qiuyun Chen / Qing Kenneth Wang / Mohammad Reza Amini
      119. Introduction to the T-Box Genes: Their Evolution and Roles in Development / Qiuyun Chen / Qing Kenneth Wang / Mohammad Reza Amini
      120. 22q11.2 Deletion Syndrome and TBX1 / Sarah N. Goldin / Virginia E. Papaioannou
      121. TBX3, TBX5, and the Ulnar-Mammary and Holt-Oram Syndromes / Bernice E. Morrow / Beverly S. Emanuel / Donna M. Mcdonald-McGinn
      122. TBX22, X-linked Cleft Palate, and Ankyloglossia / Lynn B. Jorde / Michael J. Bamshad
      E. Sox Gene Family / Philip Stanier / Erwin Pauws
      123. Sox Genes in Development and Disease / Philip Stanier / Erwin Pauws
      124. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract / Peter Koopman
      125. SOX3 and Infundibular Hypoplasia / David R. Fitzpatrick
      126. SOX9, Campomelic Dysplasia, and Sex Reversal / Kyriaki S. Alatzoglou / Mehul T. Dattani / Daniel Kelberman
      127. SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome / Sahar Mansour
      F. Transcription Factors / Pascal Brouillard / Miikka Vikkula / Koen Devriendt
      128. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes / Pascal Brouillard / Miikka Vikkula / Koen Devriendt
      129. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) / Thomas J. Hornyak / Lina Naga
      130. Char and Branchio-Oculo-Facial Syndromes: The AP-2 Transcription Factor Defects / Hannie Kremer / Frans P.M. Cremers / Erwin Van Wijk / Cor W.R.J. Cremers
      131. GATA3, Hypoparathryoidism, Deafness, and Renal Disease / Bruce D. Gelb / Matthew Bock
      132. FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia / R.V. Thakker
      133. PTFIA: Pancreatic and Cerebellar Agenesis / Anne M. Slavotinek
      134. RAIL, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome / Andrew T. Hattersley / Jayne A.L. Houghton
      135. SALL4 and the Duane Radial-Ray/Okihiro and Acro-Renal-Ocular Syndromes / Melanie Lacaria / James R. Lupski / Weimin Bi
      136. HNF1B-MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Pancreas and Urogenital Tract Due to Mutations in HNF1B / Jürgen Kohlhase / James D. Sutherland / Rosa Barrio
      137. ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation / Oddmund Søvik / Jon V. Sagen / Pål R. Njølstad / Erling Tjora / Ingfrid S. Haldorsen
      138. MED12 and Opitz-Kaveggia Syndrome / Kathleen J. Millen
      139. Börjes on-Forssman-Lehmann Syndrome and PHF6 / Michael J. Lyons
      G. Regulation Of Chromatin Structure And Gene Expression / Mark A. Corbett / Jozef Gecz / Matthew Hunter
      140. Mechanisms of Regulated Gene Transcription / Mark A. Corbett / Jozef Gecz / Matthew Hunter
      141. CBP (CREBBP), the Rubinstein-Taybi Syndrome, and the 16p13.3 Duplication Syndrome / Robert B. Weiss / Kristen Jepsen / Christopher K. Glass / Victoria Lunyak / Michael G. Rosenfeld / Valentina Perissi
      142. ATRX, X-Linked cc-Thalassemia Mental Retardation / Dorien J.M. Peters / Fred Petrij
      143. IGF2, H19, CDKNIC, KCNQIOTI, and the Beckwith-Wiedemann Syndrome / Richard J. Gibbons / Takahito Wada / Christopher A. Fisher
      144. Prader-Willi Syndrome / Marcel Mannens / Frederic Brioude / I. Karen Temple
      145. Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome / Suzanne B. Cassidy / Shawn E. McCandless
      146. RSK2 and the Coffin-Lowry Syndrome / Corry Weemaes / Silvère Van Der Maarel
      147. BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome / Anne Schneider / Andre Hanauer / Jean-Pierre Delaunoy
      148. CHD7 and CHARGE Syndrome / Emma Hilton / Vivian Bardwell / Graeme C.M. Black
      149. Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome / Conny M.A. Van Ravenswaaij Arts / Donna M. Martin
      150. ESCO2 and Roberts Syndrome / Luba Kalaydjieva / Rebecca Gooding / Teodora Chamova
      151. MS. 173/Pathways-Cohesinopathies / Hugo Vega / Ethylin Wang Jabs / Miriam Gordillo
      152. NSD1 and Sotos Syndrome / Yaning Wu / Ian D. Krantz / Matthew A. Deardorff
      153. Kabuki Syndrome / Naomichi Matsumoto / Remco Visser
      154. SETBP1 and Schinzel-Giedion Syndrome / Louanne Hudgins / Margaret P. Adam
      155. HDAC4 and 2q37 Deletion Syndrome / Kenichi Yoshida / Seishi Ogawa / Bregje W.M. Van Bon
      156. Warsaw Breakage Syndrome / Sarah Elsea / Trang Le
      A. RNA Localization and Control of Activity / Johan P. De Winter
      157. Posttranscriptional Control: Nuclear RNA Processing / Johan P. De Winter
      158. FMR1 and the Fragile X Syndrome / John P. Aris / Maurice S. Swanson
      159. TCOF1 (Treacle) and the Treacher-Collins Syndrome / Kathryn B. Garber / Stephen T. Warren / Jeannie Visootsak
      160. RMRP and Cartilage-Hair Hypoplasia / Jill Dixon / Michael J. Dixon / Paul A. Trainor
      B. Posttranslational Control And Ubiquitination / Brendan H. Lee / Bernhard Zabel / Pia Hermann
      161. Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis / Pia Hermann / Brendan H. Lee / Bernhard Zabel
      162. UBE3A and the Angelman Syndrome / Peter K. Jackson
      163. VHL and Von Hippel-Lindau Disease / Charles A. Williams
      164. PQBP1 and Renpenning Syndrome, Related XLID Syndromes, and Nonsyndromic XLID / Eamonn R. Maher
      165. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome / Charles E. Schwartz
      166. UBR1, the N-End-Rule Pathway, and the Johanson-Blizzard Syndrome / George A. Diaz / Monica Sentmanat / Eli Hershkovitz / Ruti Parvari
      167. 3M Syndrome / Martin Zenker
      168. Peters Plus Syndrome / Valerie Cormier-Daire / Céline Huber
      169. X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome / Saskia A.J. Lesnik Oberstein / Raoul C.M. Hennekam / Martine J. Van Belzen
      C. Cell Cycle, Proliferation, And Apoptosis / Gholson Lyon / Alan Rope / Lynne M. Bird
      170. Introduction to the Mechanisms of Cell-Cycle Regulation and Apoptosis / Gholson Lyon / Lynne M. Bird / Alan Rope
      171. Hutchinson-Gilford Progeria Syndrome / Katrien Vermeulen / Zwi N. Berneman / Viggo F.I. Van Tendeloo / Dirk R. Van Bockstaele
      172. Fanconi Anemia / Leslie B. Gordon / Frank G. Rothman
      Contents note continued: 173. RECQL4-Related Recessive Conditions / Markus Grompe / Henri Van De Vrugt
      174. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Ha-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (Adult), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation) / L. Van Maldergem / L.L. Wang / L. Larizza / J. Piard
      175. Seckel Syndrome / Michael J. Bamshad
      176. Miller Syndrome / Mark O'Driscoll
      177. Meier-Gorlin Syndrome / David R. Fitzpatrick / Dagmar Wieczorek
      178. Desbuquois Dysplasia / Mark E. Samuels / David L. Skidmore / Cheri L. Deal
      D. Guanine Nucleotide-Binding Proteins / Valérie Cormier-Daire / Céline Huber
      179. GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism / Valérie Cormier-Daire / Céline Huber
      180. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400 / Lee S. Weinstein
      181. RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, and the Warburg Micro and Martsolf Syndromes / Jerome L. Gorski
      182. GPR56 and Bilateral Frontoparietal Polymicrogyria / Mark Handley / Irene Aligianis
      183. ARHGAP31, DOCK6, RBPJ, EOGT, and Adams-Oliver Syndrome / Xianhua Piao
      E. Microtubule Motors And The Cytoskeleton / Richard C. Trembath / Laura Southgate
      184. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration / Richard C. Trembath / Laura Southgate
      185. Classic Lissencephaly / Anthony J. Wynshaw-Boris
      186. Lissencephaly With Cerebellar Hypoplasia / Deborah J. Morris Rosendahl / Joseph G. Gleeson
      187. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III / Christopher A. Walsh / Eric C. Olson
      188. Oblique Facial Clefts / Deborah Krakow / Stephen R. Robertson
      189. Deletion of 7q11.23 Genes and Williams Syndrome / Valeriy Shubinets / Eric C. Liao / Richard L. Maas
      190. SH3PXD2B and Frank-Ter Haar Syndrome / Li Dai / Anna Järvinen / Ursula Bellugi / Julie R. Korenberg / Timothy T. Brown / Eric Halgren / Barbara R. Pober / Debra L. Mills
      F. Vesicle-Mediated Trafficking And Endocytosis / Hans Van Bokhoven
      191. Inborn Defects of Membrane Trafficking / Hans Van Bokhoven
      192. VPS13B and Cohen Syndrome / Elina Ikonen
      193. VPS33B, VIPAS39, and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome / Forbes D.C. Manson / Deborah J. Morris-Rosendahl / Graeme C.M. Black / Kate E. Chandler
      194. SEC23A and Cranio-Lenticulo-Sutural Dysplasia / Paul Gissen
      195. Griscelli Syndrome / Simeon A. Boyadjiev / Jinoh Kim
      G. Extracellular Matrix / Haggit Hurvitz / Yair Anikster / Marjan Huizing / Andrew R. Cullinane
      196. Extracellular Matrix and Signaling During Development / Haggit Hurvitz / Yair Anikster / Marjan Huizing / Andrew R. Cullinane
      197. GPC3 and the Simpson-Golabi-Behmel Syndrome / Joanna J. Phillips / Sally E. Stringer / Scott B. Selleck
      198. HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-Jampel Syndrome / Michael R. Debaun / Scott Saunders / Rick A. Martin
      199. L1CAM and X-Linked Hydrocephalus (L1 Syndrome) / Bertrand Fontaine / Sophie Nicole
      200. COMP and Pseudoachondroplasia / Yvonne Vos / Connie Schrander-Stumpel / Jean-Pierre Fryns
      201. ZIC3 Related Disorders: X-linked Heterotaxy, Vacterl-X, Situs Inversus and Isolated CHD* / Daniel H. Cohn / Matthew J. Rock
      202. Human MMP-2/MT1-MMP Deficiency: Multicentric Osteolysis With Nodulosis, Arthropathy (MONA), and Winchester Syndromes / Mardi J. Sutherland / Stephanie M. Ware
      203. ADAMTSIO, ADAMTS17, and FBN1: The Weill-Marchesani Syndrome / Rebecca A. Mosig / John A. Martignetti
      204. Fraser Syndrome and Related Conditions / Carine Le Goff / Valérie Cormier-Daire
      205. TRPS1 and the Tricho-Rhino-Phalangeal Syndrome / Peter J. Scambler
      206. Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Alpha-Dystroglycan / Bernhard Horst Hemke / Hermann-Josef Lüdecke
      207. HPSE2, LRIG2, and the Urofacial Syndrome / Moniek Riemersma / Dirk J. Lefeber / Hans Van Bokhoven
      208. Bifid Nose, Anorectal Malformation, and Renal Agenesis (BNAR) Syndrome / Helen M. Stuart / Adrian S. Woolf / William G. Newman
      209. CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome) / Fowzan S. Alkuraya
      210. Synpolydactyly and Mutations in the Hoxd13 Gene / Andreas R. Janecke
      H. Junctions, Transporters, And Channels / Philippe Debeer / Przemko Tylzanowski / Nathalie Brison
      211. GJA1 (Connexin 43) and the Oculodentodigital Syndrome / Philippe Debeer / Przemko Tylzanowski / Nathalie Brison
      212. KCNJ2 and the Andersen-Tawil Syndrome / Michael J. Dixon / Rebecca J. Richardson
      213. ANKH and Craniometaphyseal Dysplasia / Rabi Tawil / Martin Tristani-Firouzi / Louis J. Ptácek / David R. Renner
      214. Role of EVC and EVC2 in Ellis-van Creveld Syndrome and Weyers Acrofacial Dysostosis / Uwe Korank / Sigrid Tinschert / Peter Nürnberg
      215. P450 Oxidoreductase Deficiency and Antley-Bixler Syndrome / Edward I. Ginns / Janice A. Egeland / Marzena M. Galdzicka
      216. TRIM37 and Mulibrey Nanism / Walter L. Miller
      217. KIAA1279 and Goldberg-Shprintzen Syndrome / Anna-Elina Lehesjoki / Hannu Jalanko / Marita Lipsanen-Nyman / Susann Karlberg / Niklas Karlberg / Kaisa Kettunen
      218. GLMN and Glomuvenous Malformation / Alice S. Brooks / Robert M.W. Hofstra
      219. Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations / Laurence M. Boon / Miikka Vikkula / Pascal Brouillard
      220. Proteus Syndrome / David A. McDonald / Douglas A. Marchuk
      221. Microphthalmia 9 (PDAC) / Leslie G. Biesecker
      222. Ichthyosis Prematurity Syndrome / Julie Plaisancie / Nicolas Chassaing
      223. Microphthalmia With Linear Skin Lesions (MLS) Syndrome: An Unconventional Mitochondrial Disorder / Anders Vahlqvist / Joakim Klarjürgen Kohlhase / Niklas Dahl
      224. Mutations in SCARF2 Are Responsible for the Van Den Ende-Gupta Syndrome (VDEGS) / Alessia Indrieri / Brunella Franco.
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