-
1
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon R.A., Graham J.M., Zonana J.Y.S.L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediatr. 1981, 99:223-227.
-
(1981)
J. Pediatr.
, vol.99
, pp. 223-227
-
-
Pagon, R.A.1
Graham, J.M.2
Zonana, J.Y.S.L.3
-
2
-
-
43049109219
-
Cranial nerve manifestations in CHARGE syndrome
-
Blake K.D., Hartshorne T.S., Lawand C., Dailor A.N., Thelin J.W. Cranial nerve manifestations in CHARGE syndrome. Am. J. Med. Genet. A 2008, 146A:585-592.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 585-592
-
-
Blake, K.D.1
Hartshorne, T.S.2
Lawand, C.3
Dailor, A.N.4
Thelin, J.W.5
-
3
-
-
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., Wyse R.K.H. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch. Dis. Child. 1990, 65:217-223.
-
(1990)
Arch. Dis. Child.
, vol.65
, pp. 217-223
-
-
Blake, K.D.1
Russell-Eggitt, I.M.2
Morgan, D.W.3
Ratcliffe, J.M.4
Wyse, R.K.H.5
-
4
-
-
0038827382
-
Early prognostic factors for intellectual outcome in CHARGE syndrome
-
Raqbi F., Le Bihan C., Morisseau-Durand M.P., Dureau P., Lyonnet S., Abadie V. Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev. Med. Child Neurol. 2003, 45:483-488.
-
(2003)
Dev. Med. Child Neurol.
, vol.45
, pp. 483-488
-
-
Raqbi, F.1
Le Bihan, C.2
Morisseau-Durand, M.P.3
Dureau, P.4
Lyonnet, S.5
Abadie, V.6
-
6
-
-
14344261381
-
Adolescent and adult issues in CHARGE syndrome
-
Blake K.D., Salem-Hartshorne N., Daoud M.A., Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clin. Pediatr. 2005, 44:151-159.
-
(2005)
Clin. Pediatr.
, vol.44
, pp. 151-159
-
-
Blake, K.D.1
Salem-Hartshorne, N.2
Daoud, M.A.3
Gradstein, J.4
-
7
-
-
14344255717
-
Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data
-
Smith I.M., Nichols S.L., Issekutz K., Blake K. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. Am. J. Med. Genet. A 2005, 133A:248-256.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 248-256
-
-
Smith, I.M.1
Nichols, S.L.2
Issekutz, K.3
Blake, K.4
-
8
-
-
14344252476
-
Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
-
Graham J.M., Rosner B., Dykens E., Visootsak J. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. Am. J. Med. Genet. A 2005, 133A:240-247.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 240-247
-
-
Graham, J.M.1
Rosner, B.2
Dykens, E.3
Visootsak, J.4
-
9
-
-
14344264661
-
Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options
-
Bernstein V., Denno L.S. Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options. Am. J. Med. Genet. A 2005, 133A:232-239.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 232-239
-
-
Bernstein, V.1
Denno, L.S.2
-
10
-
-
33645570346
-
CHARGE syndrome: relations between behavioral characteristics and medical conditions
-
Vervloed M.P.J., Hoevenaars-van den Boom M.A.A., Knoors H., van Ravenswaaij C.M.A., Admiraal R.J.C. CHARGE syndrome: relations between behavioral characteristics and medical conditions. Am. J. Med. Genet. A 2006, 140A:851-862.
-
(2006)
Am. J. Med. Genet. A
, vol.140 A
, pp. 851-862
-
-
Vervloed, M.P.J.1
Hoevenaars-van den Boom, M.A.A.2
Knoors, H.3
van Ravenswaaij, C.M.A.4
Admiraal, R.J.C.5
-
11
-
-
14344251895
-
Adaptive behavior in children with CHARGE syndrome
-
Salem-Hartshorne N., Jacob S. Adaptive behavior in children with CHARGE syndrome. Am. J. Med. Genet. A 2005, 133A:262-267.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 262-267
-
-
Salem-Hartshorne, N.1
Jacob, S.2
-
12
-
-
70350719241
-
Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects
-
Johansson M., Gillberg C., Råstam M. Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects. Res. Dev. Disabil. 2010, 31:9-24.
-
(2010)
Res. Dev. Disabil.
, vol.31
, pp. 9-24
-
-
Johansson, M.1
Gillberg, C.2
Råstam, M.3
-
13
-
-
4344619862
-
Genetic heterogeneity in Usher syndrome
-
Keats B.J., Savas S. Genetic heterogeneity in Usher syndrome. Am. J. Med. Genet. A 2004, 130A:13-16.
-
(2004)
Am. J. Med. Genet. A
, vol.130 A
, pp. 13-16
-
-
Keats, B.J.1
Savas, S.2
-
14
-
-
38749124706
-
Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy
-
Williams D.S. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008, 48:433-441.
-
(2008)
Vision Res.
, vol.48
, pp. 433-441
-
-
Williams, D.S.1
-
15
-
-
77954161995
-
Genetics and pathological mechanisms of Usher syndrome
-
Yan D., Liu X.Z. Genetics and pathological mechanisms of Usher syndrome. J. Hum. Genet. 2010, 55:327-335.
-
(2010)
J. Hum. Genet.
, vol.55
, pp. 327-335
-
-
Yan, D.1
Liu, X.Z.2
-
16
-
-
7944229728
-
Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study
-
Hallgren B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study. Acta Psychiatr. Scand. Suppl. 1959, 34:1-101.
-
(1959)
Acta Psychiatr. Scand. Suppl.
, vol.34
, pp. 1-101
-
-
Hallgren, B.1
-
17
-
-
0022891165
-
Usher syndrome in four Norwegian counties
-
Grøndahl J., Mjøen S. Usher syndrome in four Norwegian counties. Clin. Genet. 1986, 30:14-28.
-
(1986)
Clin. Genet.
, vol.30
, pp. 14-28
-
-
Grøndahl, J.1
Mjøen, S.2
-
18
-
-
0014780501
-
Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome
-
Nuutila A. Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome. J. Genet. Hum. 1970, 18:57-88.
-
(1970)
J. Genet. Hum.
, vol.18
, pp. 57-88
-
-
Nuutila, A.1
-
19
-
-
63649099320
-
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management
-
Rijavec N., Grubic V.N. Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. Psychiatr. Danub. 2009, 21:68-71.
-
(2009)
Psychiatr. Danub.
, vol.21
, pp. 68-71
-
-
Rijavec, N.1
Grubic, V.N.2
-
20
-
-
68149125338
-
A case of Usher's syndrome associated with psychotic symptoms: diagnosis and follow-up in a psychiatric unit
-
Viala A., Nicot T., Levy F., Vacheron M.N. A case of Usher's syndrome associated with psychotic symptoms: diagnosis and follow-up in a psychiatric unit. Encephale 2009, 35:286-291.
-
(2009)
Encephale
, vol.35
, pp. 286-291
-
-
Viala, A.1
Nicot, T.2
Levy, F.3
Vacheron, M.N.4
-
21
-
-
33748339351
-
Usher syndrome with psychotic symptoms: two cases in the same family
-
Wu C.Y., Chiu C.C. Usher syndrome with psychotic symptoms: two cases in the same family. Psychiatry Clin. Neurosci. 2006, 60:626-628.
-
(2006)
Psychiatry Clin. Neurosci.
, vol.60
, pp. 626-628
-
-
Wu, C.Y.1
Chiu, C.C.2
-
22
-
-
0028673976
-
Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness
-
Sharp C.W., Muir W.J., Blackwood D.H., Walker M., Gosden C., St Clair D.M. Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. Am. J. Med. Genet. 1994, 54:354-360.
-
(1994)
Am. J. Med. Genet.
, vol.54
, pp. 354-360
-
-
Sharp, C.W.1
Muir, W.J.2
Blackwood, D.H.3
Walker, M.4
Gosden, C.5
St Clair, D.M.6
-
23
-
-
0031913495
-
A case report of Usher's syndrome and anorexia nervosa
-
Chapman V., Valmana A., Lacey J.H. A case report of Usher's syndrome and anorexia nervosa. Int. J. Eat. Disord. 1998, 23:223-226.
-
(1998)
Int. J. Eat. Disord.
, vol.23
, pp. 223-226
-
-
Chapman, V.1
Valmana, A.2
Lacey, J.H.3
-
24
-
-
0029044747
-
Psychosocial implications of Usher syndrome, Type 1, throughout the life cycle
-
Miner I.D. Psychosocial implications of Usher syndrome, Type 1, throughout the life cycle. J. Vis. Impair. Blin. 1995, 89:287-297.
-
(1995)
J. Vis. Impair. Blin.
, vol.89
, pp. 287-297
-
-
Miner, I.D.1
-
25
-
-
33645883543
-
The Usher lifestyle survey: maintaining independence: a multi-centre study
-
Damen G.W.J.A., Krabbe P.F.M., Kilsby M., Mylanus E.A.M. The Usher lifestyle survey: maintaining independence: a multi-centre study. Int. J. Rehabil. Res. 2005, 28:309-320.
-
(2005)
Int. J. Rehabil. Res.
, vol.28
, pp. 309-320
-
-
Damen, G.W.J.A.1
Krabbe, P.F.M.2
Kilsby, M.3
Mylanus, E.A.M.4
-
27
-
-
79851512734
-
Prevalence and aetiology of congenitally deafblind people in Denmark
-
Dammeyer J. Prevalence and aetiology of congenitally deafblind people in Denmark. Int. J. Audiol. 2011, 32:571-575.
-
(2011)
Int. J. Audiol.
, vol.32
, pp. 571-575
-
-
Dammeyer, J.1
-
28
-
-
0035193037
-
Sensory impairments, intellectual disability and psychiatry
-
Carvill S. Sensory impairments, intellectual disability and psychiatry. J. Intellect. Disabil. Res. 2001, 45:467-483.
-
(2001)
J. Intellect. Disabil. Res.
, vol.45
, pp. 467-483
-
-
Carvill, S.1
-
29
-
-
4243101604
-
Characteristics and development of children with CHARGE association/syndrome
-
Salem-Hartshorne N., Jacob S. Characteristics and development of children with CHARGE association/syndrome. J. Early Interv. 2004, 26:292-301.
-
(2004)
J. Early Interv.
, vol.26
, pp. 292-301
-
-
Salem-Hartshorne, N.1
Jacob, S.2
-
31
-
-
58849087624
-
Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being
-
Hartshorne T.S., Heussler H.S., Dailor A.N., Williams G.L., Papadopoulos D., Brandt K.K. Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being. Dev. Med. Child Neurol. 2009, 51:143-150.
-
(2009)
Dev. Med. Child Neurol.
, vol.51
, pp. 143-150
-
-
Hartshorne, T.S.1
Heussler, H.S.2
Dailor, A.N.3
Williams, G.L.4
Papadopoulos, D.5
Brandt, K.K.6
-
32
-
-
34548564703
-
Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: a pediatric survey
-
Wachtel L.E., Hartshorne T.S., Dailor A.N. Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: a pediatric survey. J. Dev. Phys. Disabil. 2007, 19:471-483.
-
(2007)
J. Dev. Phys. Disabil.
, vol.19
, pp. 471-483
-
-
Wachtel, L.E.1
Hartshorne, T.S.2
Dailor, A.N.3
-
33
-
-
14344263807
-
Factors related to the development of communication in CHARGE syndrome
-
Thelin J.W., Fussner J.C. Factors related to the development of communication in CHARGE syndrome. Am. J. Med. Genet. A 2005, 133A:282-290.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 282-290
-
-
Thelin, J.W.1
Fussner, J.C.2
-
35
-
-
0003667465
-
-
Stoelting Company, Wheat Lane, IL
-
Roid G.H., Miller L.J. Examiner's Manual, Leiter International Performance Scale-Revised 1997, Stoelting Company, Wheat Lane, IL.
-
(1997)
Examiner's Manual, Leiter International Performance Scale-Revised
-
-
Roid, G.H.1
Miller, L.J.2
-
38
-
-
0023789328
-
CNS changes in Usher's syndrome with mental disorder: CT, MRI and PET findings
-
Koizumi J., Ofuku K., Sakuma K., Shiraishi H., Iio M., Nawano S. CNS changes in Usher's syndrome with mental disorder: CT, MRI and PET findings. J. Neurol. Neurosurg. Psychiatry 1988, 51:987-990.
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, pp. 987-990
-
-
Koizumi, J.1
Ofuku, K.2
Sakuma, K.3
Shiraishi, H.4
Iio, M.5
Nawano, S.6
-
39
-
-
0034207789
-
Developmental psychopathology: concepts and challenges
-
Rutter M., Sroufe L.A. Developmental psychopathology: concepts and challenges. Dev. Psychopathol. 2000, 12:265-296.
-
(2000)
Dev. Psychopathol.
, vol.12
, pp. 265-296
-
-
Rutter, M.1
Sroufe, L.A.2
-
40
-
-
14344257058
-
CHARGE syndrome " behaviors": challenges or adaptations?
-
Brown D. CHARGE syndrome " behaviors": challenges or adaptations?. Am. J. Med. Genet. A 2005, 133A:268-272.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 268-272
-
-
Brown, D.1
-
41
-
-
84865353143
-
Changes over the life cycle. Childhood
-
Plural Publishing, San Diego, CA, T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.)
-
Salem-Hartshorne N., Hartshorne T.S. Changes over the life cycle. Childhood. CHARGE Syndrome 2011, 231-236. Plural Publishing, San Diego, CA. T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.).
-
(2011)
CHARGE Syndrome
, pp. 231-236
-
-
Salem-Hartshorne, N.1
Hartshorne, T.S.2
-
42
-
-
79851513915
-
Interaction of dual sensory loss, cognitive function, and communication in people who are congenitally deaf-blind
-
Dammeyer J. Interaction of dual sensory loss, cognitive function, and communication in people who are congenitally deaf-blind. J. Vis. Impair. Blin. 2010, 104:719-725.
-
(2010)
J. Vis. Impair. Blin.
, vol.104
, pp. 719-725
-
-
Dammeyer, J.1
-
43
-
-
63349105864
-
Congenitally deafblind children and cochlear implants-effect on communication
-
Dammeyer J. Congenitally deafblind children and cochlear implants-effect on communication. J. Deaf Stud. Deaf Educ. 2008, 14:278-288.
-
(2008)
J. Deaf Stud. Deaf Educ.
, vol.14
, pp. 278-288
-
-
Dammeyer, J.1
-
44
-
-
0035014982
-
A review and evaluation of research on the deaf-blind from perceptual, communicative, social and rehabilitative perspectives
-
Rönnberg J., Borg E. A review and evaluation of research on the deaf-blind from perceptual, communicative, social and rehabilitative perspectives. Scand. Audiol. 2001, 30:67-77.
-
(2001)
Scand. Audiol.
, vol.30
, pp. 67-77
-
-
Rönnberg, J.1
Borg, E.2
-
45
-
-
0345062136
-
Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome
-
Hess-Röver J., Crichton J., Byrne K., Holland A.J. Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome. J. Intellect. Disabil. Res. 1999, 43:428-434.
-
(1999)
J. Intellect. Disabil. Res.
, vol.43
, pp. 428-434
-
-
Hess-Röver, J.1
Crichton, J.2
Byrne, K.3
Holland, A.J.4
-
46
-
-
31144437077
-
Autism spectrum disorders and underlying brain pathology in CHARGE association
-
Johansson M., Råstam M., Billstedt E., Danielsson S., Strömland K., Miller M., et al. Autism spectrum disorders and underlying brain pathology in CHARGE association. Dev. Med. Child Neurol. 2006, 48:40-50.
-
(2006)
Dev. Med. Child Neurol.
, vol.48
, pp. 40-50
-
-
Johansson, M.1
Råstam, M.2
Billstedt, E.3
Danielsson, S.4
Strömland, K.5
Miller, M.6
-
47
-
-
84865364303
-
Cognitive
-
Plural Publishing, San Diego, CA, T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.)
-
Salem-Hartshorne N. Cognitive. CHARGE Syndrome 2011, 199-204. Plural Publishing, San Diego, CA. T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.).
-
(2011)
CHARGE Syndrome
, pp. 199-204
-
-
Salem-Hartshorne, N.1
-
49
-
-
14344252300
-
CHARGE syndrome: developmental and behavioral data
-
Souriau J., Gimenes M., Bloulin C., Benbrik I., Benbrik E., Churakowskyi A., et al. CHARGE syndrome: developmental and behavioral data. Am. J. Med. Genet. A 2005, 133A:278-281.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 278-281
-
-
Souriau, J.1
Gimenes, M.2
Bloulin, C.3
Benbrik, I.4
Benbrik, E.5
Churakowskyi, A.6
|