-
1
-
-
0006694567
-
-
American Thoracic Society, 1999. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am. J. Respir. Crit. Care Med. 160, 368-373.
-
-
-
-
2
-
-
9044220230
-
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 355-357
-
-
Amiel, J.1
Attie, T.2
Jan, D.3
Pelet, A.4
Edery, P.5
Bidaud, C.6
Lacombe, D.7
Tam, P.8
Simeoni, J.9
Flori, E.10
Nihoul-Fekete, C.11
Munnich, A.12
Lyonnet, S.13
-
4
-
-
0028862473
-
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2407-2409
-
-
Attie, T.1
Till, M.2
Pelet, A.3
Amiel, J.4
Edery, P.5
Boutrand, L.6
Munnich, A.7
Lyonnet, S.8
-
6
-
-
0030993331
-
2 sensitivity
-
(1997)
J. Auton. Nerv. Syst.
, vol.63
, pp. 137-143
-
-
Burton, M.D.1
Kawashima, A.2
Brayer, J.A.3
Kazemi, H.4
Shannon, D.C.5
Schuchardt, A.6
Costantini, F.7
Pachnis, V.8
Kinane, T.B.9
-
11
-
-
0032699705
-
Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice
-
(1999)
Pediatr. Res.
, vol.46
, pp. 535-542
-
-
Dauger, S.1
Renolleau, S.2
Vardon, G.3
Nepote, V.4
Mas, C.5
Simonneau, M.6
Gaultier, C.7
Gallego, J.8
-
12
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.M.3
Pelet, A.4
Dow, E.5
Abel, L.6
Holder, S.7
Nihoul-Fekete, C.8
Ponder, B.A.9
Munnich, A.10
-
13
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
(1996)
Nat. Genet.
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.6
Martelli, H.7
Bidaud, C.8
Munnich, A.9
Lyonnet, S.10
-
19
-
-
0028363655
-
Localization of putative neural respiratory regions in the human by functional magnetic resonance imaging
-
(1994)
J. Appl. Physiol.
, vol.76
, pp. 2076-2083
-
-
Gozal, D.1
Hathout, G.M.2
Kirlew, K.A.3
Tang, H.4
Woo, M.S.5
Zhang, J.6
Lufkin, R.B.7
Harper, R.M.8
-
27
-
-
0034284888
-
Multiple sites for central chemoreception: their roles in response sensitivity and in sleep and wakefulness
-
(2000)
Respir. Physiol.
, vol.122
, pp. 223-235
-
-
Nattie, E.1
-
32
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Luo, Y.3
Barone, V.4
Seri, M.5
Ceccherini, I.6
Pasini, B.7
Bocciardi, R.8
Lerone, M.9
Kääriäinen, H.10
Martucciello, G.11
-
34
-
-
16144368214
-
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
-
(1996)
Nat. Genet.
, vol.14
, pp. 345-347
-
-
Salomon, R.1
Attie, T.2
Pelet, A.3
Bidaud, C.4
Eng, C.5
Amiel, J.6
Sarnacki, S.7
Goulet, O.8
Ricour, C.9
Nihoul-Fekete, C.10
Munnich, A.11
Lyonnet, S.12
-
35
-
-
0023065608
-
Transcutaneous monitoring as trigger for therapy of hypoxemia during sleep
-
Huch A., Huch R., Rooth G. (Eds.), Continuous Transcutaneous Monitoring, New York: Plenum Press
-
(1987)
, pp. 95-100
-
-
Schlaefke, M.E.1
Schaefer, T.2
Kronberg, H.3
Ullrich, G.J.4
Hopmeier, J.5
-
42
-
-
17544388670
-
Rnx deficiency results in congenital central hypoventilation
-
(2000)
Nat. Genet.
, vol.24
, pp. 287-290
-
-
Shirasawa, S.1
Arata, A.2
Onimaru, H.3
Roth, K.A.4
Brown, G.A.5
Horning, S.6
Arata, S.7
Okumura, K.8
Sasazuki, T.9
Korsmeyer, S.J.10
-
47
-
-
0026500098
-
Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children
-
(1992)
J. Pediatr.
, vol.120
, pp. 381-387
-
-
Weese-Mayer, D.E.1
Silvestri, J.M.2
Menzies, L.J.3
Morrow-Kenny, A.S.4
Hunt, C.E.5
Hauptman, S.A.6
|