-
1
-
-
0031892284
-
CHARGE association: an update and review for the primary pediatrician
-
Blake K.D., Davenport S.L., Hall B.D., Hefner M.A., Pagon R.A., Williams M.S., et al. CHARGE association: an update and review for the primary pediatrician. Clin. Pediatr. (Phila) 37 3 (1998) 159-173
-
(1998)
Clin. Pediatr. (Phila)
, vol.37
, Issue.3
, pp. 159-173
-
-
Blake, K.D.1
Davenport, S.L.2
Hall, B.D.3
Hefner, M.A.4
Pagon, R.A.5
Williams, M.S.6
-
2
-
-
0035281525
-
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
-
Amiel J., Attiee-Bitach T., Marianowski R., Cormier-Daire V., Abadie V., Bonnet D., et al. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am. J. Med. Genet. 99 2 (2001) 124-127
-
(2001)
Am. J. Med. Genet.
, vol.99
, Issue.2
, pp. 124-127
-
-
Amiel, J.1
Attiee-Bitach, T.2
Marianowski, R.3
Cormier-Daire, V.4
Abadie, V.5
Bonnet, D.6
-
3
-
-
43049109219
-
Cranial Nerve Manifestations in CHARGE Syndrome
-
Blake K., Harthorne T., Lawand C., Dailor N., and T.Thelin J.W. Cranial Nerve Manifestations in CHARGE Syndrome. Am. J. Med. Genet. A. 146A 5 (2008) 585-592
-
(2008)
Am. J. Med. Genet. A.
, vol.146 A
, Issue.5
, pp. 585-592
-
-
Blake, K.1
Harthorne, T.2
Lawand, C.3
Dailor, N.4
T.Thelin, J.W.5
-
4
-
-
37549039003
-
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
-
Jongmans M., Hoefsloot L., van der Donk K., Admiraal R., Magee A., van der Laar I., et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am. J. Med. Genet. A. 146A 1 (2008) 43-50
-
(2008)
Am. J. Med. Genet. A.
, vol.146 A
, Issue.1
, pp. 43-50
-
-
Jongmans, M.1
Hoefsloot, L.2
van der Donk, K.3
Admiraal, R.4
Magee, A.5
van der Laar, I.6
-
6
-
-
0032513590
-
CHARGE syndrome: report of 47 cases and review
-
Tellier A.L., Cormier-Daire V., Abadie V., Amiel J., Sigaudy S., Bonnet D., et al. CHARGE syndrome: report of 47 cases and review. Am. J. Med. Genet. 76 5 (1998) 402-409
-
(1998)
Am. J. Med. Genet.
, vol.76
, Issue.5
, pp. 402-409
-
-
Tellier, A.L.1
Cormier-Daire, V.2
Abadie, V.3
Amiel, J.4
Sigaudy, S.5
Bonnet, D.6
-
8
-
-
14344251519
-
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
-
Issekutz K.A., Graham Jr. J.M., Prasad C., Smith I.M., and Blake K.D. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am. J. Med. Genet. A 133 3 (2005) 309-317
-
(2005)
Am. J. Med. Genet. A
, vol.133
, Issue.3
, pp. 309-317
-
-
Issekutz, K.A.1
Graham Jr., J.M.2
Prasad, C.3
Smith, I.M.4
Blake, K.D.5
-
9
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 36 9 (2004) 955-957
-
(2004)
Nat. Genet.
, vol.36
, Issue.9
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
Janssen, I.M.6
-
10
-
-
0030761277
-
Characterization of the CHD family of proteins
-
Woodage T., Basrai M.A., Baxevanis A.D., Hieter P., and Collins F.S. Characterization of the CHD family of proteins. Proc. Natl. Acad. Sci. U.S.A. 94 21 (1997) 11472-11477
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, Issue.21
, pp. 11472-11477
-
-
Woodage, T.1
Basrai, M.A.2
Baxevanis, A.D.3
Hieter, P.4
Collins, F.S.5
-
11
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
Lalani S.R., Safiullah A.M., Fernbach S.D., Harutyunyan K.G., Thaller C., Peterson L.E., et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am. J. Hum. Genet. 78 2 (2006) 303-314
-
(2006)
Am. J. Hum. Genet.
, vol.78
, Issue.2
, pp. 303-314
-
-
Lalani, S.R.1
Safiullah, A.M.2
Fernbach, S.D.3
Harutyunyan, K.G.4
Thaller, C.5
Peterson, L.E.6
-
12
-
-
0027703916
-
CHARGE association looking at the future-the voice of a family support group
-
Blake K.D., and Brown D. CHARGE association looking at the future-the voice of a family support group. Child Care Health Dev. 19 6 (1993) 395-409
-
(1993)
Child Care Health Dev.
, vol.19
, Issue.6
, pp. 395-409
-
-
Blake, K.D.1
Brown, D.2
-
13
-
-
0025099446
-
Who's in CHARGE? Multidisciplinary management of patients with CHARGE association
-
Blake K.D., Russell-Eggitt I.M., Morgan D.W., Ratcliffe J.M., and Wyse R.K. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch. Dis. Child. 65 2 (1990) 217-223
-
(1990)
Arch. Dis. Child.
, vol.65
, Issue.2
, pp. 217-223
-
-
Blake, K.D.1
Russell-Eggitt, I.M.2
Morgan, D.W.3
Ratcliffe, J.M.4
Wyse, R.K.5
-
14
-
-
28444490780
-
Anesthetic management of children with Moebius sequence
-
Ames W.A., Shichor T.M., Speakman M., Zuker R.M., and McCaul C. Anesthetic management of children with Moebius sequence. Can. J. Anaesth. 52 8 (2005) 837-844
-
(2005)
Can. J. Anaesth.
, vol.52
, Issue.8
, pp. 837-844
-
-
Ames, W.A.1
Shichor, T.M.2
Speakman, M.3
Zuker, R.M.4
McCaul, C.5
-
15
-
-
0027417075
-
Congenital heart disease in CHARGE association
-
Wyse R.K., al-Mahdawi S., Burn J., and Blake K. Congenital heart disease in CHARGE association. Pediatr. Cardiol. 14 2 (1993) 75-81
-
(1993)
Pediatr. Cardiol.
, vol.14
, Issue.2
, pp. 75-81
-
-
Wyse, R.K.1
al-Mahdawi, S.2
Burn, J.3
Blake, K.4
-
16
-
-
0026647729
-
CHARGE and esophageal atresia
-
Kutiyanawala M., Wyse R.K., Brereton R.J., Spitz L., Kiely E.M., Drake D., et al. CHARGE and esophageal atresia. J. Pediatr. Surg. 27 5 (1992) 558-560
-
(1992)
J. Pediatr. Surg.
, vol.27
, Issue.5
, pp. 558-560
-
-
Kutiyanawala, M.1
Wyse, R.K.2
Brereton, R.J.3
Spitz, L.4
Kiely, E.M.5
Drake, D.6
-
17
-
-
0025737170
-
Incidence and management of airway problems in the CHARGE Association
-
Stack C.G., and Wyse R.K. Incidence and management of airway problems in the CHARGE Association. Anaesthesia 46 7 (1991) 582-585
-
(1991)
Anaesthesia
, vol.46
, Issue.7
, pp. 582-585
-
-
Stack, C.G.1
Wyse, R.K.2
-
18
-
-
25444448739
-
Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases
-
Dobbelsteyn C., Marche D.M., Blake K., and Rachid M. Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases. Dysphagia 20 Spring (2) (2005) 89-100
-
(2005)
Dysphagia
, vol.20
, Issue.Spring 2
, pp. 89-100
-
-
Dobbelsteyn, C.1
Marche, D.M.2
Blake, K.3
Rachid, M.4
-
19
-
-
44549084826
-
Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis
-
Dobbelsteyn C., Peacocke S.D., Blake K., Crist W., and Rachid M. Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis. Dysphagia 23 2 (2008) 127-135
-
(2008)
Dysphagia
, vol.23
, Issue.2
, pp. 127-135
-
-
Dobbelsteyn, C.1
Peacocke, S.D.2
Blake, K.3
Crist, W.4
Rachid, M.5
-
20
-
-
14344261381
-
Adolescent and adult issues in CHARGE syndrome
-
Blake K.D., Salem-Hartshorne N., Daoud M.A., and Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clin. Pediatr. (Phila) 44 2 (2005) 151-159
-
(2005)
Clin. Pediatr. (Phila)
, vol.44
, Issue.2
, pp. 151-159
-
-
Blake, K.D.1
Salem-Hartshorne, N.2
Daoud, M.A.3
Gradstein, J.4
-
21
-
-
33645781251
-
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
-
Jongmans M.C., Admiraal R.J., van der Donk K.P., Vissers L.E., Baas A.F., Kapusta L., et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43 4 (2006) 306-314
-
(2006)
J. Med. Genet.
, vol.43
, Issue.4
, pp. 306-314
-
-
Jongmans, M.C.1
Admiraal, R.J.2
van der Donk, K.P.3
Vissers, L.E.4
Baas, A.F.5
Kapusta, L.6
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