-
1
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia and complete heart block
-
Kearns TP, Sayre CP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophtalm 1958;60:280-9.
-
(1958)
Arch Ophtalm
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, C.P.2
-
2
-
-
10044286499
-
Le malattie mitocondriali con turbe della fosforilazione ossidativa
-
Tesi di Dottorato Università di Genova
-
Piazzi A. Le malattie mitocondriali con turbe della fosforilazione ossidativa. Aspetti diagnostici, odontoiatrici, terapeutici e pedagogici. Tesi di Dottorato Università di Genova 1994.
-
(1994)
Aspetti diagnostici, odontoiatrici, terapeutici e pedagogici
-
-
Piazzi, A.1
-
3
-
-
0030445566
-
Craniofacial anomalies and malformations in respiratory chain deficiency
-
Cormier Daire V, Rustin P, Rötig A, Chretien D, Le Merrer M, Belòli D et al. Craniofacial anomalies and malformations in respiratory chain deficiency. Am J Med Gen 1996;66:457-63.
-
(1996)
Am J Med Gen
, vol.66
, pp. 457-463
-
-
Cormier Daire, V.1
Rustin, P.2
Rötig, A.3
Chretien, D.4
Le Merrer, M.5
Belòli, D.6
-
4
-
-
0004925580
-
Diverse clinical disorders associated with morphological abnormalities of mitochondria
-
Scarlato G, Cerri C, editors, Padova:Piccin;
-
Rowland IP, Hays AP, Di Mauro S, De Vivo DC, Behrens ML. Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C, editors. Mitochondrial pathology in muscle disease. Padova:Piccin;1983. p. 141-58.
-
(1983)
Mitochondrial pathology in muscle disease
, pp. 141-158
-
-
Rowland, I.P.1
Hays, A.P.2
Di Mauro, S.3
De Vivo, D.C.4
Behrens, M.L.5
-
5
-
-
0021084496
-
Nouvelle concéption du syndrome de Pierre Robin.Rev Stomatol Chir Maxillo Fac
-
Couly G. Nouvelle concéption du syndrome de Pierre Robin.Rev Stomatol Chir Maxillo Fac 1983;84:225-30.
-
(1983)
, vol.84
, pp. 225-230
-
-
Couly, G.1
-
7
-
-
1942466507
-
Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia
-
Jeong G, Meo J, Tenzen T, Kottmann AH, McMahon AP. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev 2004;18:937-51.
-
(2004)
Genes Dev
, vol.18
, pp. 937-951
-
-
Jeong, G.1
Meo, J.2
Tenzen, T.3
Kottmann, A.H.4
McMahon, A.P.5
-
8
-
-
0142184265
-
Neural crest specification: Migrating into genomics
-
Gammil S, Bronner Fraser M. Neural crest specification: migrating into genomics. Nature Rev 2003;4:795-805.
-
(2003)
Nature Rev
, vol.4
, pp. 795-805
-
-
Gammil, S.1
Bronner Fraser, M.2
-
9
-
-
0043037247
-
Congenital abnormalities of body patterning: Embryology revisited
-
Goodman FR. Congenital abnormalities of body patterning: embryology revisited, Lancet 2003;362:651-62.
-
(2003)
Lancet
, vol.362
, pp. 651-662
-
-
Goodman, F.R.1
-
10
-
-
0037008305
-
Riding the crest of the Wnt signaling wave
-
Trainor P, Krumlauf R. Riding the crest of the Wnt signaling wave. Science 2002;297:781-3.
-
(2002)
Science
, vol.297
, pp. 781-783
-
-
Trainor, P.1
Krumlauf, R.2
-
11
-
-
0342959301
-
Ectodermal origin of the cartilage of the head
-
Platt JB. Ectodermal origin of the cartilage of the head. Anat Anz 1893;8:506-9.
-
(1893)
Anat Anz
, vol.8
, pp. 506-509
-
-
Platt, J.B.1
-
12
-
-
1142298447
-
Instructive role of WNT/B-catening in sensory fate specification in neural crest stem cells
-
Lee HY, Kleber M, Hari L, Brault V, Suter U, Taketo MM et al. Instructive role of WNT/B-catening in sensory fate specification in neural crest stem cells. Science 2004;303:1020-3.
-
(2004)
Science
, vol.303
, pp. 1020-1023
-
-
Lee, H.Y.1
Kleber, M.2
Hari, L.3
Brault, V.4
Suter, U.5
Taketo, M.M.6
-
13
-
-
0037673939
-
Cranial skeletal biology
-
Helms JA, Schneider RA. Cranial skeletal biology. Nature 2003;423:325-31.
-
(2003)
Nature
, vol.423
, pp. 325-331
-
-
Helms, J.A.1
Schneider, R.A.2
-
15
-
-
0036336298
-
Interaction between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head
-
Couly J, Creuzet S, Bennaceur S, Vincent C, Le Douarin U.M. Interaction between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head. Development 2002;129:1061-73.
-
(2002)
Development
, vol.129
, pp. 1061-1073
-
-
Couly, J.1
Creuzet, S.2
Bennaceur, S.3
Vincent, C.4
Le Douarin, U.M.5
-
16
-
-
0037064154
-
Specification of jaw subdivisions by Dlxgenes
-
Depew M, Lufkin T, Rubinstein JLR. Specification of jaw subdivisions by Dlxgenes. Science 2002;298:381-5.
-
(2002)
Science
, vol.298
, pp. 381-385
-
-
Depew, M.1
Lufkin, T.2
Rubinstein, J.L.R.3
-
17
-
-
0015923569
-
Contribution du meséctoderme à la genèse des arcs aortiques chez l'embrion d'oiseau
-
Le Lievre C, Le Douarin N. Contribution du meséctoderme à la genèse des arcs aortiques chez l'embrion d'oiseau. C R Acad Sci 1973;276:383-6.
-
(1973)
C R Acad Sci
, vol.276
, pp. 383-386
-
-
Le Lievre, C.1
Le Douarin, N.2
-
18
-
-
2942581169
-
Growth hormone deficiency and relate disorders: Insights into causation, diagnosis and treatment
-
Dattani M, Preece M. Growth hormone deficiency and relate disorders: insights into causation, diagnosis and treatment. Lancet 2004;363:1977-86.
-
(2004)
Lancet
, vol.363
, pp. 1977-1986
-
-
Dattani, M.1
Preece, M.2
-
19
-
-
0030695926
-
Multistep control of pituitary organogenesis
-
Sheng H, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA et al. Multistep control of pituitary organogenesis. Science 1997;278:1809-12.
-
(1997)
Science
, vol.278
, pp. 1809-1812
-
-
Sheng, H.1
Moriyama, K.2
Yamashita, T.3
Li, H.4
Potter, S.S.5
Mahon, K.A.6
-
20
-
-
34249721406
-
Alterazioni maxillo-facciali nella sindrome di Kearns - Sayre: Una neurocristopatia
-
Piazzi A, Berio A. Alterazioni maxillo-facciali nella sindrome di Kearns - Sayre: una neurocristopatia. Ped Med Chir 2003;25:53-7.
-
(2003)
Ped Med Chir
, vol.25
, pp. 53-57
-
-
Piazzi, A.1
Berio, A.2
-
21
-
-
10044269574
-
Facial anomalies in patients with cytochrome-c-oxidase deficiency: A dysneurulation
-
Piazzi A, Berio A. Facial anomalies in patients with cytochrome-c-oxidase deficiency: a dysneurulation. Minerva Pediat 2004;56:547-50.
-
(2004)
Minerva Pediat
, vol.56
, pp. 547-550
-
-
Piazzi, A.1
Berio, A.2
-
22
-
-
0001181845
-
Neurocristopathies: From basic science to clinical practice
-
Molenaar JC, Brooks A, Meijers C. Neurocristopathies: from basic science to clinical practice. Gaslini 1998;30:105-10.
-
(1998)
Gaslini
, vol.30
, pp. 105-110
-
-
Molenaar, J.C.1
Brooks, A.2
Meijers, C.3
-
23
-
-
30944466636
-
Fetal alcohol spectrum disorders: Practical clinical evaluation and diagnosis
-
Spagnolo PA, Ceccanti M, Hoyme HE. Fetal alcohol spectrum disorders: practical clinical evaluation and diagnosis. Ital J Pediat 2005;31:244-53.
-
(2005)
Ital J Pediat
, vol.31
, pp. 244-253
-
-
Spagnolo, P.A.1
Ceccanti, M.2
Hoyme, H.E.3
-
24
-
-
34249674884
-
-
Robinson BM. Lactacidemia. In: Scriver CR, Beaudet CR, Valle D, Sly WJ, editors. The metabolic and molecular bases of inherited disease. New York:McGraw-Hill; 2001.p.2275-96.
-
Robinson BM. Lactacidemia. In: Scriver CR, Beaudet CR, Valle D, Sly WJ, editors. The metabolic and molecular bases of inherited disease. New York:McGraw-Hill; 2001.p.2275-96.
-
-
-
-
25
-
-
0036677570
-
Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure
-
Ahlgren S, Thakur V, Bronner Fraser M. Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure. Proc Natl Acad Sci USA 2002;99:10476-81.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10476-10481
-
-
Ahlgren, S.1
Thakur, V.2
Bronner Fraser, M.3
-
26
-
-
1242271426
-
-
Marsoth Dupuich K, Smoker WRK, Grauer W. A rare expression of neural crest disorder: an intrasphenoidal development of the anterior pituitary gland. AJNR Am J Neurorad 2004;25:285-8.
-
Marsoth Dupuich K, Smoker WRK, Grauer W. A rare expression of neural crest disorder: an intrasphenoidal development of the anterior pituitary gland. AJNR Am J Neurorad 2004;25:285-8.
-
-
-
|