-
2
-
-
0026500098
-
Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children
-
Weese-Mayer DE, Silvestri JM, Menzies LJ, Morrow-Kenny AS, Hunt CE, Hauptman SA. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr 1992;120:381-387.
-
(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
-
3
-
-
0018165812
-
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate
-
Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MAF, Epstein RA, Mellins RB. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine 1978;57:517-526.
-
(1978)
Medicine
, vol.57
, pp. 517-526
-
-
Haddad, G.G.1
Mazza, N.M.2
Defendini, R.3
Blanc, W.A.4
Driscoll, J.M.5
Epstein, M.A.F.6
Epstein, R.A.7
Mellins, R.B.8
-
4
-
-
0024314385
-
Congenital central hypoventilation syndrome associated with multiple ganglioneuromas
-
Swaminanthan S, Gilsanz V, Atkinson J, Keens TG. Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. Chest 1989;96:423-424.
-
(1989)
Chest
, vol.96
, pp. 423-424
-
-
Swaminanthan, S.1
Gilsanz, V.2
Atkinson, J.3
Keens, T.G.4
-
6
-
-
0032802151
-
Idiophatic congenital hypoventilation syndrome: Diagnosis and management [official statement]
-
Weese-Mayer DE, Shannon CD, Keens GT, Silvestri JM; for the American Thoracic Society. Idiophatic congenital hypoventilation syndrome: diagnosis and management [official statement]. Am J Respir Crit Care Med 1999;160:368-373.
-
(1999)
Am J Respir Crit Care Med
, vol.160
, pp. 368-373
-
-
Weese-Mayer, D.E.1
Shannon, C.D.2
Keens, G.T.3
Silvestri, J.M.4
-
7
-
-
3242882319
-
Genetics of congenital central hypoventilation syndrome: Lessons from a seemingly orphan disease
-
Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med 2004;170:16-21.
-
(2004)
Am J Respir Crit Care Med
, vol.170
, pp. 16-21
-
-
Weese-Mayer, D.E.1
Berry-Kravis, E.M.2
-
8
-
-
0030061014
-
Neuroradiologic MR applications with multiparametric color composite display
-
Philips WE II, Brown HK, Bouza J. Neuroradiologic MR applications with multiparametric color composite display. Magn Reson Imaging 1996;14:59-72.
-
(1996)
Magn Reson Imaging
, vol.14
, pp. 59-72
-
-
Philips II, W.E.1
Brown, H.K.2
Bouza, J.3
-
9
-
-
0037379890
-
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
-
Amiel J, Laudier B, Attiè-Bitach T, Trang H, De Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-461.
-
(2003)
Nat Genet
, vol.33
, pp. 459-461
-
-
Amiel, J.1
Laudier, B.2
Attiè-Bitach, T.3
Trang, H.4
De Pontual, L.5
Gener, B.6
Trochet, D.7
Etchevers, H.8
Ray, P.9
Simonneau, M.10
-
10
-
-
10744219538
-
Molecular analysis of congenital central hypoventilation syndrome
-
Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 2003;114:22-26.
-
(2003)
Hum Genet
, vol.114
, pp. 22-26
-
-
Sasaki, A.1
Kanai, M.2
Kijima, K.3
Akaba, K.4
Hashimoto, M.5
Otaki, S.6
Koizumi, T.7
Kusuda, S.8
Ogawa, Y.9
Tuchiya, K.10
-
11
-
-
0344033754
-
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b
-
Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri J-M, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b. Am J Med Genet 2003;123:267-278.
-
(2003)
Am J Med Genet
, vol.123
, pp. 267-278
-
-
Weese-Mayer, D.E.1
Berry-Kravis, E.M.2
Zhou, L.3
Maher, B.S.4
Silvestri, J.-M.5
Curran, M.E.6
Marazita, M.L.7
-
12
-
-
2342474459
-
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome
-
Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet 2004;41:373-380.
-
(2004)
J Med Genet
, vol.41
, pp. 373-380
-
-
Matera, I.1
Bachetti, T.2
Puppo, F.3
Di Duca, M.4
Morandi, F.5
Casiraghi, G.M.6
Cilio, M.R.7
Hennekam, R.8
Hofstra, R.9
Schober, J.G.10
-
13
-
-
26044440585
-
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
-
Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 2005;14:1815-1824.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1815-1824
-
-
Bachetti, T.1
Matera, I.2
Borghini, S.3
Di Duca, M.4
Ravazzolo, R.5
Ceccherini, I.6
-
14
-
-
22144462144
-
Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b
-
Durand E, Dauger S, Pattyn A, Gaultier C, Goridis C, Gallego J. Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b. Am J Respir Crit Care Med 2004;172:238-243.
-
(2004)
Am J Respir Crit Care Med
, vol.172
, pp. 238-243
-
-
Durand, E.1
Dauger, S.2
Pattyn, A.3
Gaultier, C.4
Goridis, C.5
Gallego, J.6
-
15
-
-
13844253252
-
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
-
Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson P-J, Uhrig S, Cole T, Munnich A, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2004;76:421-426.
-
(2004)
Am J Hum Genet
, vol.76
, pp. 421-426
-
-
Trochet, D.1
O'Brien, L.M.2
Gozal, D.3
Trang, H.4
Nordenskjold, A.5
Laudier, B.6
Svensson, P.-J.7
Uhrig, S.8
Cole, T.9
Munnich, A.10
-
16
-
-
13844316846
-
The French Congenital Central Hypoventilation Syndrome Registry
-
Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C; French CCHS Working Group. The French Congenital Central Hypoventilation Syndrome Registry. Chest 2005;127:72-79.
-
(2005)
Chest
, vol.127
, pp. 72-79
-
-
Trang, H.1
Dehan, M.2
Beaufils, F.3
Zaccaria, I.4
Amiel, J.5
Gaultier, C.6
-
17
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison ES, Mc Callion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chackravarti A. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005;434:857-863.
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
Mc Callion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
Lin, S.6
Portnoy, M.E.7
Cutler, D.J.8
Green, E.D.9
Chackravarti, A.10
-
18
-
-
33646386646
-
Mutations of the RET gene in isolated and syndromic Hirschsprung disease in human disclose major and modifier alleles at a single locus
-
De Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parilla Y, Munnich A, Brunet J-F, Goridis C, Feingold J, Lyonnet S, et al.Mutations of the RET gene in isolated and syndromic Hirschsprung disease in human disclose major and modifier alleles at a single locus. J Med Genet 2006;43:419-423.
-
(2006)
J Med Genet
, vol.43
, pp. 419-423
-
-
De Pontual, L.1
Pelet, A.2
Trochet, D.3
Jaubert, F.4
Espinosa-Parilla, Y.5
Munnich, A.6
Brunet, J.-F.7
Goridis, C.8
Feingold, J.9
Lyonnet, S.10
-
19
-
-
11144236141
-
Adult identified with congenital central hypoventilation syndrome-mutation in PHOX2B gene and late-onset CHS
-
Weese-Mayer DE, Berry-Kravis ME, Zhou L. Adult identified with congenital central hypoventilation syndrome-mutation in PHOX2B gene and late-onset CHS. Am J Respir Crit Care Med 2005;171:88.
-
(2005)
Am J Respir Crit Care Med
, vol.171
, pp. 88
-
-
Weese-Mayer, D.E.1
Berry-Kravis, M.E.2
Zhou, L.3
-
20
-
-
18344388635
-
Central alveolar hypoventilation syndrome and cerebral venous thrombosis: Fortuitous association?
-
Boubred F, Lethel V, Hugonencq C, Viard L, Raybaud C, Camboulives J, Mancini J, Chabrol B. Central alveolar hypoventilation syndrome and cerebral venous thrombosis: fortuitous association? Arch Pediatr 2002;9:266-270.
-
(2002)
Arch Pediatr
, vol.9
, pp. 266-270
-
-
Boubred, F.1
Lethel, V.2
Hugonencq, C.3
Viard, L.4
Raybaud, C.5
Camboulives, J.6
Mancini, J.7
Chabrol, B.8
-
21
-
-
0022499683
-
Abnormal ventilatory patterns during sleep in infants with myelomeningocele
-
Ward SL, Jacobs RA, Gates EP, Hart LD, Keens TG. Abnormal ventilatory patterns during sleep in infants with myelomeningocele. J Pediatr 1986;109:631-644.
-
(1986)
J Pediatr
, vol.109
, pp. 631-644
-
-
Ward, S.L.1
Jacobs, R.A.2
Gates, E.P.3
Hart, L.D.4
Keens, T.G.5
-
22
-
-
12144289329
-
Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B
-
Toyota T, Yoshitsugu K, Ebihara M, Yamada K, Ohba H, Fukasawa M, Minabe Y, Nakamure K, Sekine Y, Yoshikawa T. Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B. Hum Mol Genet 2004;13:551-561.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 551-561
-
-
Toyota, T.1
Yoshitsugu, K.2
Ebihara, M.3
Yamada, K.4
Ohba, H.5
Fukasawa, M.6
Minabe, Y.7
Nakamure, K.8
Sekine, Y.9
Yoshikawa, T.10
-
23
-
-
19944408364
-
Neuroanatomic deficits in congenital central hypoventilation syndrome
-
Kumar R, Macey PM, Woo MA, Alger JR, Keens TG, Harper RM. Neuroanatomic deficits in congenital central hypoventilation syndrome. J Comp Neurol 2005;487:361-371.
-
(2005)
J Comp Neurol
, vol.487
, pp. 361-371
-
-
Kumar, R.1
Macey, P.M.2
Woo, M.A.3
Alger, J.R.4
Keens, T.G.5
Harper, R.M.6
-
24
-
-
0036668282
-
Phox2 genes: From patterning to connectivity
-
Brunet JF, Pattyn A. Phox2 genes: from patterning to connectivity. Curr Opin Genet Dev 2002;12:435-440.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 435-440
-
-
Brunet, J.F.1
Pattyn, A.2
-
25
-
-
28744432065
-
Molecular consequences of PHOX2B missense frameshift and alanine expansion mutations leading to autonomic dysfunction
-
Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Goridis C, Amiel J. Molecular consequences of PHOX2B missense frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 2005;14:3697-3708.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3697-3708
-
-
Trochet, D.1
Hong, S.J.2
Lim, J.K.3
Brunet, J.F.4
Munnich, A.5
Kim, K.S.6
Goridis, C.7
Amiel, J.8
|