Gene regulation and fetal development: proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993
Gespeichert in:
Format: | Tagungsbericht Buch |
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Sprache: | English |
Veröffentlicht: |
New York [u.a.]
Wiley-Liss
1996
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Schriftenreihe: | [Birth defects / Original article series]
30,1 |
Schlagworte: | |
Online-Zugang: | Inhaltsverzeichnis |
Beschreibung: | XXII, 438 S. Ill., graph. Darst. |
ISBN: | 047113791X |
Internformat
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245 | 1 | 0 | |a Gene regulation and fetal development |b proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 |c ed. Maria Enrica Martini-Neri ... |
264 | 1 | |a New York [u.a.] |b Wiley-Liss |c 1996 | |
300 | |a XXII, 438 S. |b Ill., graph. Darst. | ||
336 | |b txt |2 rdacontent | ||
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490 | 1 | |a [Birth defects / Original article series] |v 30,1 | |
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650 | 4 | |a Fetus |x Abnormalities |x Genetic aspects |x Congresses | |
650 | 4 | |a Genetic regulation |x Congresses | |
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Datensatz im Suchindex
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adam_text | Contents
Contributors xi
Preface
Maria Enrica Martini Neri, Giovanni Neri, and John M. Opitz xvii
Introduction: 1894 and All That...
John M. Opitz xix
Cellular Dialogues in Organogenesis
Scott F. Gilbert 1
Current Status of the Human Malformation Map
John C. Carey and David H. Viskochil 13
Limb Anomalies From Evolutionary, Developmental, and
Genetic Perspectives
John M. Opitz 35
Hand Malformations in the Aborted Embryo: An Important Source
of Genetic Information
M. Ramsing, V Duda, Y. Mehraein, H. Gruber, W. Coerdt,
W. Holzgreve, and H. Rehder 79
A Case of Short Rib Syndrome Without Polydactyly in a Stillborn:
A New Type?
Gioacchino Scarano, Matteo Delia Monica, Giuseppe Capece,
Fortunato Lonardo, Giovanni Neri, and Pierre Maroteaux 95
Abnormal Bone Development: Histopathology of Skeletal Dysplasias
Enid Gilbert Barness and John M. Opitz 103
Limb Body Wall Complex: Craniofacial Defects as a
Distinctive Factor
Rosa Russo and Raffaella Vecchione 157
Limb Body Wall Complex: Analysis of Eight Fetuses
V Cusi, M. Torrents, J. Vila, J. Antich, and J. M. Carrera 165
Amniotic Bands and the EEC Syndrome
M.L. Guion Almeida, E.S.O. Rodini, S.C.S. Pereira, and
A. Richieri Costa 171
vii
viii / Contents
Mapping of an X Linked Gene for Ventral Midline Defects
(the TAS Gene)
R. Carmi, R. Parvari, S. Ehrlich, B. Cwikel, andY. Weinstein 179
Pentalogy of Cantrell: Detection Through Fetal Board Registry and
Fetal Pathology
Boris G. Kousseff, Gabi L. Jervis, Enid Gilbert Barness,
Diane Debich Spicer, and Sivaselvi Gunasekaran 189
Multisite Neural Tube Closure in Humans
Morgot I. Van Allen 203
Severe Hemifacial Microsomia and Absent Right Pharyngeal Arch
Artery Derivatives in a 19 Week Old Fetus
J.S. Bamforth and G.A. Machin 227
The Search for Genes That Cause Holoprosencephaly:
Possible Approaches
Fiorella Gurrieri and Maximilian Muenke 247
Familial Holoprosencephaly: Further Example of Autosomal
Recessive Inheritance
Gabriele Gillessen Kaesbach 251
The Role of the Tumor Suppressor Genes p53 and Rb 1 in
Development and Cell Death
Alan R. Clarke 261
Atypical Presentation of Denys Drash Syndrome in a Female With
a Novel WTI Gene Mutation
Geoffrey A. Machin 269
Three Cases With Nasopharyngeal/Cranial Teratomata
Greetje de Jong and Pat A. Kirby 287
Two Different Pregnancy Outcomes of Trisomic Zygote Rescue
Through Postzygotic Mitotic Error
Dagmar K. Kalousek 295
Quantitative Study of Definitive Histogenesis in Normal and
Trisomy 21 Ovaries
A. Forabosco, C. Sforza, L. Marzona, A. De Pol, and VF. Ferrario 301
Postmortem Findings in Three Triploid Fetuses
T.J.L. de Ravel, C.A. Wright, and L.I. Moller 341
Cytogenetic and Morphologic Findings in Chorionic Villi From
Spontaneous Abortions
E. Silvestre, V Cusi, M. Borras, and J. Antich 353
Contents / ix
Two Cases of Neonatal Muscular Atrophy: Nosological Problems
Maria Enrica Martini, Francesca Stella, and Criselda Santacroce 359
Myosin Heavy Chain Expression in Muscles of Two Cases of Lethal
Congenital Contracture Syndrome
Katri Vuopala, Riitta Herva, Fatima Pedrosa Domellof,
and Lars Eric Thornell 369
Malformation Syndromes With Kidney Dysplasia
Maurizio Genuardi, Gioacchino Scarano, Carla Tozzi,
Massimo Chinca, Matteo Delia Monica, Maria Enrica Martini Neri,
Pia Picardi, and Giovanni Neri 379
Interpretation and Classification of Kidney Maldevelopment Based
on Kidney Embryology: A Study in 500 Autopsy Cases
Jaime Sanchez and Jose Ignacio Rodriguez 397
Fetal Valproate Embryopathy in Twins: Genetic Modification of the
Response to a Teratogen
Athel Hockey, Carol Bower, Jack Goldblatt, and Simon Knowles .... 401
Charge Associations in a Neonate Exposed In Utero to
Carbon Monoxide
W. Courtens, Y. Hennequin, D. Blum, and E. Vamos 407
Congenital Eye Malformations: A Descriptive Epidemiologic Study
in About One Million Newborns in Italy
Maurizio Clementi, Romano Tenconi, Fabrizio Bianchi, Lorenzo Botto,
Anna Calabro, Elisa Calzolari, Domenico Cianciulli, Isabella Mammi,
Pierpaolo Mastroiacovo, Paola Meli, Amedeo Spagnolo, Licia Turolla,
and Silvio Volpato 413
Colophon: On Doing Morphology
John M. Opitz 425
Index 431
|
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format | Conference Proceeding Book |
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spelling | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 ed. Maria Enrica Martini-Neri ... New York [u.a.] Wiley-Liss 1996 XXII, 438 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier [Birth defects / Original article series] 30,1 Fetal growth disorders Genetic aspects Congresses Fetus Abnormalities Genetic aspects Congresses Genetic regulation Congresses Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Fetalentwicklung (DE-588)4071188-2 gnd rswk-swf Genregulation (DE-588)4122166-7 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf (DE-588)1071861417 Konferenzschrift 1993 Perugia gnd-content Fetalentwicklung (DE-588)4071188-2 s Genregulation (DE-588)4122166-7 s DE-604 Molekulargenetik (DE-588)4039987-4 s Erbkrankheit (DE-588)4015106-2 s Martini-Neri, Maria E. Sonstige oth International Workshop on Fetal Genetic Pathology 3 1993 Perugia Sonstige (DE-588)5190584-X oth Original article series] [Birth defects 30,1 (DE-604)BV000004846 30,1 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007281224&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
spellingShingle | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 Fetal growth disorders Genetic aspects Congresses Fetus Abnormalities Genetic aspects Congresses Genetic regulation Congresses Molekulargenetik (DE-588)4039987-4 gnd Fetalentwicklung (DE-588)4071188-2 gnd Genregulation (DE-588)4122166-7 gnd Erbkrankheit (DE-588)4015106-2 gnd |
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title | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 |
title_auth | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 |
title_exact_search | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 |
title_full | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 ed. Maria Enrica Martini-Neri ... |
title_fullStr | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 ed. Maria Enrica Martini-Neri ... |
title_full_unstemmed | Gene regulation and fetal development proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 ed. Maria Enrica Martini-Neri ... |
title_short | Gene regulation and fetal development |
title_sort | gene regulation and fetal development proceedings of the third international workshop on fetal genetic pathology held in perugia italy june 3 6 1993 |
title_sub | proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3 - 6, 1993 |
topic | Fetal growth disorders Genetic aspects Congresses Fetus Abnormalities Genetic aspects Congresses Genetic regulation Congresses Molekulargenetik (DE-588)4039987-4 gnd Fetalentwicklung (DE-588)4071188-2 gnd Genregulation (DE-588)4122166-7 gnd Erbkrankheit (DE-588)4015106-2 gnd |
topic_facet | Fetal growth disorders Genetic aspects Congresses Fetus Abnormalities Genetic aspects Congresses Genetic regulation Congresses Molekulargenetik Fetalentwicklung Genregulation Erbkrankheit Konferenzschrift 1993 Perugia |
url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007281224&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
volume_link | (DE-604)BV000004846 |
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