-
1
-
-
0033929059
-
Vestibular anomalies in CHARGE syndrome: Investigations on and consequences for postural development
-
Abadie V, Wiener-Vacher SR, Morisseau-Durand MP, Poree C, Amiel J, Amanou L, et al. 2000. Vestibular anomalies in CHARGE syndrome: Investigations on and consequences for postural development. Eur J Pediatr 159:569-574.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 569-574
-
-
Abadie, V.1
Wiener-Vacher, S.R.2
Morisseau-Durand, M.P.3
Poree, C.4
Amiel, J.5
Amanou, L.6
-
3
-
-
0025976803
-
Effect of testosterone on radial bone mineral density in adolescent male hypogonadism
-
Arisaka O, Arisaka M, Hosaka A, Shimura N, Yabuta K. 1991. Effect of testosterone on radial bone mineral density in adolescent male hypogonadism. Acta Paediatr Scand 80:378-380.
-
(1991)
Acta Paediatr Scand
, vol.80
, pp. 378-380
-
-
Arisaka, O.1
Arisaka, M.2
Hosaka, A.3
Shimura, N.4
Yabuta, K.5
-
5
-
-
0027703916
-
CHARGE association looking at the future - The voice of a family support group
-
Blake KD, Brown D. 1993. CHARGE association looking at the future - The voice of a family support group. Child Care Health Dev 19:395-409.
-
(1993)
Child Care Health Dev
, vol.19
, pp. 395-409
-
-
Blake, K.D.1
Brown, D.2
-
7
-
-
0025099446
-
Who's in CHARGE? Multidisciplinary management of patients with CHARGE association
-
Blake KD, Russel-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RKH. 1990. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 65:217-223.
-
(1990)
Arch Dis Child
, vol.65
, pp. 217-223
-
-
Blake, K.D.1
Russel-Eggitt, I.M.2
Morgan, D.W.3
Ratcliffe, J.M.4
Wyse, R.K.H.5
-
9
-
-
0031892284
-
CHARGE association An update and review for the primary pediatrician
-
Blake KD, Davenport SLH, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr. 1998. CHARGE association An update and review for the primary pediatrician. Clin Pediatr 37:159-174.
-
(1998)
Clin Pediatr
, vol.37
, pp. 159-174
-
-
Blake, K.D.1
Davenport, S.L.H.2
Hall, B.D.3
Hefner, M.A.4
Pagon, R.A.5
Williams, M.S.6
Lin, A.E.7
Graham Jr., J.M.8
-
10
-
-
0035238037
-
Charge syndrome: Long-term survival. Report of a case
-
Civitelli S, Pelizzo G, LaRiccia A. 2001. Charge syndrome: Long-term survival. Report of a case. Pediatr Med Chir 23:69-70.
-
(2001)
Pediatr Med Chir
, vol.23
, pp. 69-70
-
-
Civitelli, S.1
Pelizzo, G.2
LaRiccia, A.3
-
11
-
-
0015098256
-
Uveal colobomata and other anomalies in three generations of one family
-
Collum LMT. 1971. Uveal colobomata and other anomalies in three generations of one family. Br J Ophthalmol 55:458-461.
-
(1971)
Br J Ophthalmol
, vol.55
, pp. 458-461
-
-
Collum, L.M.T.1
-
13
-
-
0036302843
-
CHARGE syndrome: A window of opportunity for audiologic intervention
-
Edwards BM, Kileny PR, Van Riper LA. 2002. CHARGE syndrome: A window of opportunity for audiologic intervention. Pediatrics 110: 119-126.
-
(2002)
Pediatrics
, vol.110
, pp. 119-126
-
-
Edwards, B.M.1
Kileny, P.R.2
Van Riper, L.A.3
-
14
-
-
0026602170
-
Osteopenia in men with a history of delayed puberty
-
Finkelstein JS, Neer RM, Biller BMK, Crawford JD, Klibanski A. 1992. Osteopenia in men with a history of delayed puberty. N Engl J Med 326:600-604.
-
(1992)
N Engl J Med
, vol.326
, pp. 600-604
-
-
Finkelstein, J.S.1
Neer, R.M.2
Biller, B.M.K.3
Crawford, J.D.4
Klibanski, A.5
-
17
-
-
0035281648
-
A recognizable syndrome within CHARGE association: Hall-Hittner syndrome
-
Graham JM Jr. 2001. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet 99:120-123.
-
(2001)
Am J Med Genet
, vol.99
, pp. 120-123
-
-
Graham Jr., J.M.1
-
19
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD. 1979. Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
-
(1979)
J Pediatr
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
21
-
-
0025730117
-
CHARGE association: Clinical manifestations and developmental outcome
-
Harvey SA, Leaper PM, Bankier A. 1991. CHARGE association: Clinical manifestations and developmental outcome. Am J Med Genet 39:48-55.
-
(1991)
Am J Med Genet
, vol.39
, pp. 48-55
-
-
Harvey, S.A.1
Leaper, P.M.2
Bankier, A.3
-
22
-
-
0018350904
-
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: A syndrome
-
Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: A syndrome. J Pediatr Ophthalmol Strabismus 16:122-128.
-
(1979)
J Pediatr Ophthalmol Strabismus
, vol.16
, pp. 122-128
-
-
Hittner, H.M.1
Hirsch, N.J.2
Kreh, G.M.3
Rudolph, A.J.4
-
23
-
-
0016718527
-
Ocular colobomata, cardiac defects, and other anomalies: A study of seven cases including two sibs
-
Ho CK, Kaufman RL, Podos SM. 1975. Ocular colobomata, cardiac defects, and other anomalies: A study of seven cases including two sibs. J Med Genet 12:289-293.
-
(1975)
J Med Genet
, vol.12
, pp. 289-293
-
-
Ho, C.K.1
Kaufman, R.L.2
Podos, S.M.3
-
25
-
-
0042321165
-
Toward a genetic etiology of CHARGE syndrome. A systematic scan for submicroscopic deletions
-
Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. 2003. Toward a genetic etiology of CHARGE syndrome. A systematic scan for submicroscopic deletions. Am J Med Genet 118A:260-266.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 260-266
-
-
Lalani, S.R.1
Stockton, D.W.2
Bacino, C.3
Molinari, L.M.4
Glass, N.L.5
Fernbach, S.D.6
Towbin, J.A.7
Craigen, W.J.8
Graham Jr., J.M.9
Hefner, M.A.10
Lin, A.E.11
McBride, K.L.12
Davenport, S.L.13
Belmont, J.W.14
-
27
-
-
0031882964
-
Quantitative bone SPECT in young males with delayed puberty and hypogonadism: Implications for treatment of low bone mineral density
-
Lubushitzky R, Front D, Iosilevsky G, Bettman L, Frenkel A, Kolodny GM, et al. 1998. Quantitative bone SPECT in young males with delayed puberty and hypogonadism: Implications for treatment of low bone mineral density. J Nucl Med 39:104-107.
-
(1998)
J Nucl Med
, vol.39
, pp. 104-107
-
-
Lubushitzky, R.1
Front, D.2
Iosilevsky, G.3
Bettman, L.4
Frenkel, A.5
Kolodny, G.M.6
-
28
-
-
0024348499
-
Unknown syndrome: Congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and a sister
-
Meinecke P, Blunck W. 1989. Unknown syndrome: Congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and a sister. J Med Genet 26: 407-409.
-
(1989)
J Med Genet
, vol.26
, pp. 407-409
-
-
Meinecke, P.1
Blunck, W.2
-
29
-
-
84907114401
-
Dominant CHARGE association
-
Mitchell JA, Giangiacomo J, Hefner MA, Thelin JW, Pickens JM. 1985. Dominant CHARGE association. Ophthalmol Pediatr Genet 6: 31-36.
-
(1985)
Ophthalmol Pediatr Genet
, vol.6
, pp. 31-36
-
-
Mitchell, J.A.1
Giangiacomo, J.2
Hefner, M.A.3
Thelin, J.W.4
Pickens, J.M.5
-
30
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon RA, Graham JM, Zonana J, Young SL. 1981. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227.
-
(1981)
J Pediatr
, vol.99
, pp. 223-227
-
-
Pagon, R.A.1
Graham, J.M.2
Zonana, J.3
Young, S.L.4
-
31
-
-
0038827382
-
Early prognostic factors for intellectual outcome in CHARGE syndrome
-
Raqbi F, LeBihan C, Morisseau MP, Dureau P, Lyonnet S, Abadie V. 2003. Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev Med Child Neurol 45:483-488.
-
(2003)
Dev Med Child Neurol
, vol.45
, pp. 483-488
-
-
Raqbi, F.1
LeBihan, C.2
Morisseau, M.P.3
Dureau, P.4
Lyonnet, S.5
Abadie, V.6
-
33
-
-
0036488109
-
A CGH study of 27 patients with CHARGE association
-
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, et al. 2002. A CGH study of 27 patients with CHARGE association. Clin Genet 61:135-138.
-
(2002)
Clin Genet
, vol.61
, pp. 135-138
-
-
Sanlaville, D.1
Romana, S.P.2
Lapierre, J.M.3
Amiel, J.4
Genevieve, D.5
Ozilou, C.6
-
34
-
-
14344254699
-
Behavioral phenotype of CHARGE syndrome: Preliminary data from the Canadian Pediatric Surveillance Program
-
in press
-
Smith IM, Nichols S, Issekutz K, Blake KD. 2004. Behavioral phenotype of CHARGE syndrome: Preliminary data from the Canadian Pediatric Surveillance Program. Am J Med Genet (in press).
-
(2004)
Am J Med Genet
-
-
Smith, I.M.1
Nichols, S.2
Issekutz, K.3
Blake, K.D.4
-
35
-
-
12644281611
-
Increased paternal age in CHARGE association
-
Tellier AL, Lyonnet S, Cormier V, Abadie V, Baumann C, Bonneau D, et al. 1996. Increased paternal age in CHARGE association. Clin Genet 50:548-550.
-
(1996)
Clin Genet
, vol.50
, pp. 548-550
-
-
Tellier, A.L.1
Lyonnet, S.2
Cormier, V.3
Abadie, V.4
Baumann, C.5
Bonneau, D.6
-
36
-
-
0032513590
-
CHARGE syndrome: Report of 47 cases and review
-
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. 1998. CHARGE syndrome: Report of 47 cases and review. Am J Med Genet 76:402-409.
-
(1998)
Am J Med Genet
, vol.76
, pp. 402-409
-
-
Tellier, A.L.1
Cormier-Daire, V.2
Abadie, V.3
Amiel, J.4
Sigaudy, S.5
Bonnet, D.6
-
37
-
-
0033034049
-
Vestibular function in children with the CHARGE association
-
Wiener-Vacher SR, Amanou L, Denise P, Narcy P, Manach Y. 1999. Vestibular function in children with the CHARGE association. Arch Otolaryngol Head Neck Surg 125:342-347.
-
(1999)
Arch Otolaryngol Head Neck Surg
, vol.125
, pp. 342-347
-
-
Wiener-Vacher, S.R.1
Amanou, L.2
Denise, P.3
Narcy, P.4
Manach, Y.5
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