Malformaciones congénitas de las extremidades: embriología, etiología
Tài liệu tham khảo
Abu-Abed, 2001, The retinoic acid-metabolizing enzyme. CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures., Genes Dev, 15, 226, 10.1101/gad.855001
Bamshad, 1997, Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome, Nat Genet, 16, 311, 10.1038/ng0797-311
Basson, 1997, Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome, Nat Genet, 15, 30, 10.1038/ng0197-30
Becerra, 1990, Diabetes mellitus during pregnancy and the risks for specific birth defects: a population based case-control study, Pediatrics, 85, 1, 10.1542/peds.85.1.1
Brunet, 1998, Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton, Science, 280, 1455, 10.1126/science.280.5368.1455
Capdevila, 1999, Control of vertebrate limb outgrowth by the proximal factor Meis2 and distal antagonism of BMPs by Gremlin, MolCell, 4, 839
Celli, 1999, Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome, Cell, 99, 143, 10.1016/S0092-8674(00)81646-3
Chiang, 1996, Cyclopia and axial patterning in mice lacking Sonic hedgehog gene function, Nature, 383, 407, 10.1038/383407a0
Clark, 2000, A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of hemimelic extra-toes mutant mice, Genomics, 67, 19, 10.1006/geno.2000.6225
Clavert, 1980, Experimental approach to the pathogenesis of the anomalies of amniotic disease, J Pediatr Surg, 15, 63, 10.1016/S0022-3468(80)80405-2
Cohn, 1995, Fibroblast growth factors induce additional limb development from the flank of chick embryos, Cell, 80, 739, 10.1016/0092-8674(95)90352-6
Crackower, 1996, Characterization of the split hand/split foot malformation locus SHFM1 at 7q21. 3-q22. 1 and analysis of a candidate gene for its expression during limb development, Hum Mol Genet, 5, 571, 10.1093/hmg/5.5.571
Davis, 1996, Absence of radius and ulna in mice lacking Hoxa-11 and Hoxd-11, Nature, 375, 791, 10.1038/375791a0
Del-Campo, 1999, Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster, Am J Hum Genet, 65, 104, 10.1086/302467
Dollé, 1998, Biologie moléculaire du développement des membres., 19
Dollé, 1993, Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs, Cell, 75, 431, 10.1016/0092-8674(93)90378-4
Dollé, 1989, Coordinate expression of the murine Hox-5 complex homeobox-containing genes during limb pattern formation, Nature, 342, 767, 10.1038/342767a0
El Ghouzzi, 1997, Mutations of the TWIST gene in the Saethre-Chotzen syndrome, Nat Genet, 15, 42, 10.1038/ng0197-42
Fromental-Ramain, 1996, Specific and redundant functions of the paralogous Hoxa-9 and Hoxd-9 genes in forelimb and axial skeleton patterning, Development, 122, 461, 10.1242/dev.122.2.461
Fromental-Ramain, 1996, Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod, Development, 122, 2997, 10.1242/dev.122.10.2997
Geduspan, 1993, Effects of the mesonephros and insulin-like growth factor I on chondrogenesis of limb explants, Dev Biol, 156, 177, 10.1006/dbio.1993.1096
Gejman, 1990, Genetic mapping of the G (s)-alpha gene and detection of mutations in Albright hereditary osteodystrophy (AHO) by using polymerase chain reaction (PCR), deanaturing gradient gel electrophoresis (DGGE) and direct sequencing, [abstract], Am J Hum Genet, 47, A217
Gibson-Brown, 1996, Evidence for a role of T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity, Mech Dev, 56, 93, 10.1016/0925-4773(96)00514-X
Gilbert, 1997
Gong, 1999, Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, Nat Genet, 21, 302, 10.1038/6821
Goodman, 2000, Novel HOXA1 3 mutations and the phenotypic spectrum of hand-foot-genital syndrome, Am J Hum Genet, 67, 197, 10.1086/302961
Hinchliffe, 1980
Hootnick, 1980, Vascular dysgenesis associated with skeletal dysplasia of the lower limb, J Bone Joint Surg Am, 62, 1123, 10.2106/00004623-198062070-00009
Howard, 1997, Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome, Nat Genet, 15, 36, 10.1038/ng0197-36
Hoyme, 1990, Prenatal cocaine exposure and fetal vascular disruption, Pediatrics, 85, 743, 10.1542/peds.85.5.743
Hoyme, 1982, Vascular pathogenesis of transverse limb reduction defects, J Pediatr, 101, 839, 10.1016/S0022-3476(82)80343-0
lanakiev, 1999, A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24, Biochem Biophys Res Commun, 261, 64, 10.1006/bbrc.1999.0963
lanakiev, 2000, Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27, Am J Hum Genet, 67, 59, 10.1086/302972
Kang, 1997, GLI3 frame-shift mutations cause autosomal dominant Pallister-Hall syndrome, Nat Genet, 15, 266, 10.1038/ng0397-266
Kohlhase, 1998, Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome, Nat Genet, 18, 81, 10.1038/ng0198-81
Langman, 1996
Larsen, 1997
Li, 1997, Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family, Nat Genet, 15, 21, 10.1038/ng0197-21
Logan, 1999, Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity, Science, 283, 1736, 10.1126/science.283.5408.1736
Loomis, 1996, The mouse Engrailed-1 gene and ventral limb patterning, Nature, 382, 360, 10.1038/382360a0
Macias, 1997, Role of BMP-2 and OP-1 (BMP-7) in programmed cell death and skeletogenesis during chick limb development, Development, 124, 1109, 10.1242/dev.124.6.1109
Manouvrier-Hanu, 1999, Genetics of limb anomalies in humans, Trends Genet, 15, 409, 10.1016/S0168-9525(99)01823-5
Maroteaux, 1995
McCabe, 1974, Ectodermal control of the dorsoventral axis in the leg bud of the chick embryo, Dev Biol, 39, 69, 10.1016/S0012-1606(74)80009-6
Mercader, 1999, Conserved regulation of proximodistal limb axis development by Meis1 /Hth, Nature, 402, 425, 10.1038/46580
Merino, 1999, The BMP antagonist Gremlin regulates outgrowth, chondrogenesis and programmed cell death in the developing limb, Development, 126, 5515, 10.1242/dev.126.23.5515
Muragaki, 1996, Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13, Science, 272, 448, 10.1126/science.272.5261.548
Neubert, 1999, Developmental model for thalidomide action, Nature, 400, 419, 10.1038/22685
Niswander, 1993, FGF-4 and BMP-2 have opposite effects on limb growth, Nature, 361, 68, 10.1038/361068a0
Niswander, 1993, FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb, Cell, 75, 579, 10.1016/0092-8674(93)90391-3
Ohuchi, 1997, The mesenchymal factor. FGF10, initiates and maintains the outgrowth of the chick limb bud through interaction with FGF8, an apical ectoderm factor, Development, 124, 2235, 10.1242/dev.124.11.2235
Ordahl, 1992, Two myogenic lineages within the developing somite, Development, 114, 339, 10.1242/dev.114.2.339
Pansky, 1986
Parr, 1995, Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb, Nature, 374, 350, 10.1038/374350a0
Passos-Bueno, 1999, Clinical spectrum of fibroblast growth factor receptor mutations, Hum Mutat, 14, 115, 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2
Pauli, 1986, Majorlimb malformations following intrauterine exposure to ethanol: two additional cases and literature review, Teratology, 33, 273, 10.1002/tera.1420330304
Pautou, 1977, Établissement de l'axe dorso-ventral dans le pied de l'embryon de poulet, J Embryol Exp Morphol, 42, 177
Petrij, 1995, Rubinstein-Taybi syndrome caused by mutations in the transcription al co-activator CBP, Nature, 376, 348, 10.1038/376348a0
Pizette, 1999, BMPs negatively regulate structure and function of the limb apical ectodermal ridge, Development, 126, 883, 10.1242/dev.126.5.883
Radhakrishna, 1999, The phenotypic spectrum of GLI 3 morpho-pathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations, Am J Hum Genet, 65, 645, 10.1086/302557
Riddle, 1993, Sonic hedgehog mediates the polarizing activity of the ZPA, Cell, 75, 1401, 10.1016/0092-8674(93)90626-2
Rodriguez-Esteban, 1997, Radical fringe positions the apical ectodermal ridge at the dorsoventral boundary of the vertebrate limb, Nature, 386, 360, 10.1038/386360a0
Roessler, 1996, Mutations in the human Sonic Hedgehog gene cause holoprosencephaly, Nat Genet, 14, 357, 10.1038/ng1196-357
Rombouts, 1998, La séquence disruptive et la maladie des brides amniotiques., 49
Ruiz-Perez, 2000, Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis, Nat Genet, 24, 283, 10.1038/73508
Saunders, 1948, The proximo-distal sequence of origin of the parts of the chick wing and the role of the ectoderm, J Exp Zool, 108, 363, 10.1002/jez.1401080304
Saunders, 1968, Ectodermal-mesenchymal interactions in the origin of limb symmetry, 78
Schimmang, 1994, The mouse mutant Polydactyly Nagoya (Pdn) defines a novel allele of the zinc finger gene Gli3, Mamm Genome, 5, 384, 10.1007/BF00356560
Schwabe, 2000, Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyiy type B, Am J Hum Genet, 67, 822, 10.1086/303084
Sekine, 1999, Fgf10 is essential for limb and lung formation, Nat Genet, 21, 138, 10.1038/5096
Shubin, 1986, A morphogenetic approach to the origin and basic organization of the tetra pod limb, Evol Biol, 20, 319, 10.1007/978-1-4615-6983-1_6
Stevenson, 1993, The limbs, 699
Stone, 2000, Mutation of a gne encoding a putative chaperonin causes McKusick-Kauf man syndrome, Nat Genet, 25, 79, 10.1038/75637
Tabin, 1998, A developmental model for thalidomide defects, Nature, 396, 322, 10.1038/24516
Thomas, 1997, Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1, Nat Genet, 17, 58, 10.1038/ng0997-58
Thompson, 2000, Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation, Nat Genet, 26, 397, 10.1038/82511
Vortkamp, 1991, GLI3 zinc-finger gene is interrupted by translocations in Greig syndrome families, Nature, 352, 539, 10.1038/352539a0
Warren, 1997, Polyala nine expansion in synpolydactyly might result from unequal crossing-over of HOXD13, Science, 275, 408, 10.1126/science.275.5298.408
Winter, 1993, Hands and feet., 805
Witsch-Baumgartner, 2000, Mutational spectrum in the delta-7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome, Am J Hum Genet, 66, 402, 10.1086/302760
Zakany, 1996, Synpolydactyly in mice with a targeted deficiency in the HoxD complex, Nature, 384, 69, 10.1038/384069a0
Zuniga, 1999, Signal relay by BMP antagonism controls the SHH/FGF4 feed back loop in vertebrate limb buds, Nature, 401, 598, 10.1038/44157
Zwilling, 1956, Interaction between ectoderm and mesoderm in the chick embryo II. Experimental limb duplication, J Exp Zool, 132, 173, 10.1002/jez.1401320111
