-
2
-
-
0032802151
-
Idiopathic congenital central hypoventilation syndrome: Diagnosis and management. American Thoracic Society
-
Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. 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, D.C.2
Keens, T.G.3
Silvestri, J.M.4
-
3
-
-
33644817216
-
Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: Quantitative pattern of dysmorphology
-
Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res 2006;59:39-45.
-
(2006)
Pediatr Res
, vol.59
, pp. 39-45
-
-
Todd, E.S.1
Weinberg, S.M.2
Berry-Kravis, E.M.3
Silvestri, J.M.4
Kenny, A.S.5
Rand, C.M.6
Zhou, L.7
Maher, B.S.8
Marazita, M.L.9
Weese-Mayer, D.E.10
-
5
-
-
33749822541
-
PHOX2B
-
Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med 2006;174:923-927.
-
(2006)
mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood. Am J Respir Crit Care Med
, vol.174
, pp. 923-927
-
-
Antic, N.A.1
Malow, B.A.2
Lange, N.3
McEvoy, R.D.4
Olson, A.L.5
Turkington, P.6
Windisch, W.7
Samuels, M.8
Stevens, C.A.9
Berry-Kravis, E.M.10
Weese-Mayer, D.E.11
-
6
-
-
0037379890
-
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
-
Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:1-3.
-
(2003)
Nat Genet
, vol.33
, pp. 1-3
-
-
Amiel, J.1
Laudier, B.2
Attie-Bitach, T.3
Trang, H.4
de Pontual, L.5
Gener, B.6
Trochet, D.7
Etchevers, H.8
Ray, P.9
-
7
-
-
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 JM, 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;123A:267-278.
-
(2003)
Am J Med Genet
, vol.123 A
, 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
-
8
-
-
10744219538
-
Molecular analysis of congenital central hypoventilation syndrome
-
Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K. 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
Hasegawa, H.6
Otaki, S.7
Koizumi, T.8
Kusuda, S.9
Ogawa, Y.10
Tuchiya, K.11
Yamamoto, W.12
Nakamura, T.13
Hayasaka, K.14
-
9
-
-
2342474459
-
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated systems 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, Ravazzolo R, Ottonello G, Ceccherini I. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated systems 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
Ravazzolo, R.11
Ottonello, G.12
Ceccherini, I.13
-
11
-
-
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 PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2005;76:421-426.
-
(2005)
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
Niemann, S.10
Munnich, A.11
Gaultier, C.12
Lyonnet, S.13
Amiel, J.14
-
12
-
-
0026533586
-
Heart rate variability in congenital central hypoventilation syndrome
-
Woo MS, Woo MA, Gozal D, Jansen MT, Keens TG, Harper RM. Heart rate variability in congenital central hypoventilation syndrome. Pediatr Res 1992;31:291-296.
-
(1992)
Pediatr Res
, vol.31
, pp. 291-296
-
-
Woo, M.S.1
Woo, M.A.2
Gozal, D.3
Jansen, M.T.4
Keens, T.G.5
Harper, R.M.6
-
13
-
-
0027438536
-
Effect of mental activity on breathing in congenital central hypoventilation syndrome
-
Shea SA, Andres LP, Paydarfar D, Banzett RB, Shannon DC. Effect of mental activity on breathing in congenital central hypoventilation syndrome. Respir Physiol 1993;94:251-263.
-
(1993)
Respir Physiol
, vol.94
, pp. 251-263
-
-
Shea, S.A.1
Andres, L.P.2
Paydarfar, D.3
Banzett, R.B.4
Shannon, D.C.5
-
14
-
-
0142074252
-
24-hr BP in children with congenital central hypoventilation syndrome
-
Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hr BP in children with congenital central hypoventilation syndrome. Chest 2003;124:1393-1399.
-
(2003)
Chest
, vol.124
, pp. 1393-1399
-
-
Trang, H.1
Boureghda, S.2
Denjoy, I.3
Alia, M.4
Kabaker, M.5
-
15
-
-
0029349041
-
Congenital central hypoventilation syndrome: Cardiorespiratory responses to moderate exercise, simulating daily activity
-
Silvestri JM, Weese-Mayer DE, Flanagan EA. Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity. Pediatr Pulmonol 1995;20:89-93.
-
(1995)
Pediatr Pulmonol
, vol.20
, pp. 89-93
-
-
Silvestri, J.M.1
Weese-Mayer, D.E.2
Flanagan, E.A.3
-
16
-
-
0034058645
-
Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome
-
Silvestri JM, Hanna BD, Volgman AS, Jones PJ, Barnes SD, Weese-Mayer DE. Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome. Pediatr Pulmonol 2000;29:351-358.
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 351-358
-
-
Silvestri, J.M.1
Hanna, B.D.2
Volgman, A.S.3
Jones, P.J.4
Barnes, S.D.5
Weese-Mayer, D.E.6
-
17
-
-
14844307582
-
Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's Curse)
-
Trang H, Girard A, Laude D, Elghozi J. Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's Curse). Clin Sci 2005;108:225-230.
-
(2005)
Clin Sci
, vol.108
, pp. 225-230
-
-
Trang, H.1
Girard, A.2
Laude, D.3
Elghozi, J.4
-
18
-
-
0035795604
-
Cardiorespiratory events recorded on home monitors: Comparison of healthy infants with those at increased risk for SIDS
-
Ramanathan R, Corwin MJ, Hunt CE, Lister G, Tinsley LR, Baird T, Silvestri JM, Crowell DH, Hufford D, Martin RJ, Neuman MR, Weese-Mayer DE, Cupples LA, Peucker M, Willinger M, Keens TG. Cardiorespiratory events recorded on home monitors: comparison of healthy infants with those at increased risk for SIDS. JAMA 2001;285:2199-2207.
-
(2001)
JAMA
, vol.285
, pp. 2199-2207
-
-
Ramanathan, R.1
Corwin, M.J.2
Hunt, C.E.3
Lister, G.4
Tinsley, L.R.5
Baird, T.6
Silvestri, J.M.7
Crowell, D.H.8
Hufford, D.9
Martin, R.J.10
Neuman, M.R.11
Weese-Mayer, D.E.12
Cupples, L.A.13
Peucker, M.14
Willinger, M.15
Keens, T.G.16
-
19
-
-
0018838563
-
Study of cardiac rhythm in healthy newborn infants
-
Southall DP, Richards J, Mitchell P, Brown DJ, Johnston PGB, Shinebourn EA. Study of cardiac rhythm in healthy newborn infants. Br Heart J 1980;43:14-20.
-
(1980)
Br Heart J
, vol.43
, pp. 14-20
-
-
Southall, D.P.1
Richards, J.2
Mitchell, P.3
Brown, D.J.4
Johnston, P.G.B.5
Shinebourn, E.A.6
-
20
-
-
0019423757
-
24-hour electrocardiographic study of heart rate and rhythm patterns in population of healthy children
-
Southall DP, Johnston F, Shinebourne EA, Johnston PG. 24-hour electrocardiographic study of heart rate and rhythm patterns in population of healthy children. Br Heart J 1981;45:281-291.
-
(1981)
Br Heart J
, vol.45
, pp. 281-291
-
-
Southall, D.P.1
Johnston, F.2
Shinebourne, E.A.3
Johnston, P.G.4
-
21
-
-
0023195338
-
Cardiac arrhythmias in healthy children revealed by 24-hour ambulatory ECG monitoring
-
Nagashima M, Matsushima M, Ogawa A, Ohsuga A, Kaneko T, Yazaki T, Okajima M. Cardiac arrhythmias in healthy children revealed by 24-hour ambulatory ECG monitoring. Pediatr Cardiol 1987;8:103-108.
-
(1987)
Pediatr Cardiol
, vol.8
, pp. 103-108
-
-
Nagashima, M.1
Matsushima, M.2
Ogawa, A.3
Ohsuga, A.4
Kaneko, T.5
Yazaki, T.6
Okajima, M.7
-
22
-
-
0020077038
-
Ambulatory electrocardiographic recording in endurance athletes
-
Viitasalo MT, Kala R, Eisalo A. Ambulatory electrocardiographic recording in endurance athletes. Br Heart J 1982;47:213-220.
-
(1982)
Br Heart J
, vol.47
, pp. 213-220
-
-
Viitasalo, M.T.1
Kala, R.2
Eisalo, A.3
-
24
-
-
0027296372
-
Measurement of the QT interval and the risk associated with QTc interval prolongation: A review
-
Moss AJ. Measurement of the QT interval and the risk associated with QTc interval prolongation: a review. Am J Cardiol 1993;72:23B-25B.
-
(1993)
Am J Cardiol
, vol.72
-
-
Moss, A.J.1
-
25
-
-
0033609337
-
The homeobox gene PHOX2B is essential for the development of autonomic neural crest derivatives
-
Pattyn A, Morin X, Cremer H, Goridis C, Brunet J. The homeobox gene PHOX2B is essential for the development of autonomic neural crest derivatives. Nature 1999;399:366-370.
-
(1999)
Nature
, vol.399
, pp. 366-370
-
-
Pattyn, A.1
Morin, X.2
Cremer, H.3
Goridis, C.4
Brunet, J.5
-
26
-
-
0345181834
-
PHOX2B controls the development of peripheral chemoreceptors and afferent visceral pathways
-
Dauger S, Pattyn A, Lofaso F, Gaultier C, Goridis C, Gallego J, Brunet JF. PHOX2B controls the development of peripheral chemoreceptors and afferent visceral pathways. Development 2003;130:6635-6642.
-
(2003)
Development
, vol.130
, pp. 6635-6642
-
-
Dauger, S.1
Pattyn, A.2
Lofaso, F.3
Gaultier, C.4
Goridis, C.5
Gallego, J.6
Brunet, J.F.7
-
29
-
-
33846186813
-
Long QT syndrome in adults
-
Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M, Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Long QT syndrome in adults. J Am Coll Cardiol 2007;49:329-337.
-
(2007)
J Am Coll Cardiol
, vol.49
, pp. 329-337
-
-
Sauer, A.J.1
Moss, A.J.2
McNitt, S.3
Peterson, D.R.4
Zareba, W.5
Robinson, J.L.6
Qi, M.7
Goldenberg, I.8
Hobbs, J.B.9
Ackerman, M.J.10
Benhorin, J.11
Hall, W.J.12
Kaufman, E.S.13
Locati, E.H.14
Napolitano, C.15
Priori, S.G.16
Schwartz, P.J.17
Towbin, J.A.18
Vincent, G.M.19
Zhang, L.20
more..
|