-
2
-
-
0037581419
-
The de Lange syndrome
-
Silver HK. The de Lange syndrome. Am J Dis Child 1964;108:523-29
-
(1964)
Am J Dis Child
, vol.108
, pp. 523-529
-
-
Silver, H.K.1
-
4
-
-
0028960163
-
Auditory brainstem responses in children with Cornelia de Lange syndrome
-
Kaga K, Tamai F, Kitazumi E, et al. Auditory brainstem responses in children with Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 1995;31:137-46
-
(1995)
Int J Pediatr Otorhinolaryngol
, vol.31
, pp. 137-146
-
-
Kaga, K.1
Tamai, F.2
Kitazumi, E.3
-
5
-
-
0037152609
-
Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome
-
Sakai Y, Watanabe T, Kaga K. Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 2002;66:63-69
-
(2002)
Int J Pediatr Otorhinolaryngol
, vol.66
, pp. 63-69
-
-
Sakai, Y.1
Watanabe, T.2
Kaga, K.3
-
6
-
-
0028567045
-
Hearing impairment in two boys with Cornelia de Lange syndrome
-
Ichiyama T, Hayashi T, Tanaka H, et al. Hearing impairment in two boys with Cornelia de Lange syndrome. Brain Dev 1994;16:485-87
-
(1994)
Brain Dev
, vol.16
, pp. 485-487
-
-
Ichiyama, T.1
Hayashi, T.2
Tanaka, H.3
-
7
-
-
0023601988
-
Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases)
-
Egelund EP. Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases). J Laryngol Otol 1987;101:1276-79
-
(1987)
J Laryngol Otol
, vol.101
, pp. 1276-1279
-
-
Egelund, E.P.1
-
9
-
-
0013811647
-
The Cornelia de Lange syndrome: A case report with mild mental retardation
-
McIntire MS, Eisen JD. The Cornelia de Lange syndrome: a case report with mild mental retardation. Am J Ment Defic 1965;70:438-42
-
(1965)
Am J Ment Defic
, vol.70
, pp. 438-442
-
-
McIntire, M.S.1
Eisen, J.D.2
-
10
-
-
0013920796
-
Cutaneous manifestations of the Cornelia de Lange syndrome
-
Schuster DS, Johnson SA. Cutaneous manifestations of the Cornelia de Lange syndrome. Arch Dermatol 1966;93:702-07
-
(1966)
Arch Dermatol
, vol.93
, pp. 702-707
-
-
Schuster, D.S.1
Johnson, S.A.2
-
11
-
-
0021948046
-
Mortality, pathological findings and causes of death in the de Lange syndrome
-
Beck B, Fenger K. Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr Scand 1985;74:765-69
-
(1985)
Acta Paediatr Scand
, vol.74
, pp. 765-769
-
-
Beck, B.1
Fenger, K.2
-
12
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006;38:528-30
-
(2006)
Nat Genet
, vol.38
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
-
13
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
Epub May 16
-
Tonkin ET, Wang TJ, Lisgo S, et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004;36:636-41. Epub 2004 May 16
-
(2004)
Nat Genet 2004
, vol.36
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.J.2
Lisgo, S.3
-
15
-
-
0021950757
-
Sixty-four patients with Brachmann-de Lange syndrome: A survey
-
Hawley PP, Jackson LG, Kurnit DM. Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet 1985;20:453-59
-
(1985)
Am J Med Genet
, vol.20
, pp. 453-459
-
-
Hawley, P.P.1
Jackson, L.G.2
Kurnit, D.M.3
-
16
-
-
0035123533
-
Temporal bone pathology in Cornelia de Lange syndrome
-
Yamanobe S, Ohtani I. Temporal bone pathology in Cornelia de Lange syndrome. Otol Neurotol 2001;22:57-60
-
(2001)
Otol Neurotol
, vol.22
, pp. 57-60
-
-
Yamanobe, S.1
Ohtani, I.2
-
17
-
-
0030222371
-
Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome
-
Sasaki T, Kaga K, Ohira Y, et al. Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 1996;36:195-204
-
(1996)
Int J Pediatr Otorhinolaryngol
, vol.36
, pp. 195-204
-
-
Sasaki, T.1
Kaga, K.2
Ohira, Y.3
-
18
-
-
0037287404
-
Establishment of normative cochlear and vestibular measurements to aid in the diagnosis of inner ear malformations
-
Purcell D, Johnson J, Fischbein N, et al. Establishment of normative cochlear and vestibular measurements to aid in the diagnosis of inner ear malformations. Otolaryngol Head Neck Surg 2003;128:78-87
-
(2003)
Otolaryngol Head Neck Surg
, vol.128
, pp. 78-87
-
-
Purcell, D.1
Johnson, J.2
Fischbein, N.3
-
19
-
-
0242659871
-
Identification of previously "undetectable" abnormalities of the bony labyrinth with computed tomography measurement
-
Purcell DD, Fischbein N, Lalwani AK. Identification of previously "undetectable" abnormalities of the bony labyrinth with computed tomography measurement. Laryngoscope 2003;113:1908-11
-
(2003)
Laryngoscope
, vol.113
, pp. 1908-1911
-
-
Purcell, D.D.1
Fischbein, N.2
Lalwani, A.K.3
-
20
-
-
0031032028
-
High-resolution CT of the temporal bone in dysplasia of the auricle and external auditory canal
-
Mayer TE, Brueckmann H, Siegert R, et al. High-resolution CT of the temporal bone in dysplasia of the auricle and external auditory canal. AJNR Am J Neuroradiol 1997;18:53-65
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 53-65
-
-
Mayer, T.E.1
Brueckmann, H.2
Siegert, R.3
-
21
-
-
0027366126
-
Clinical variability within Brachmann-de Lange syndrome: A proposed classification system
-
Van Allen MI, Filippi G, Siegel-Bartelt J, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993;47:947-58
-
(1993)
Am J Med Genet
, vol.47
, pp. 947-958
-
-
Van Allen, M.I.1
Filippi, G.2
Siegel-Bartelt, J.3
-
22
-
-
0027423908
-
Brachmann-de Lange syndrome: Delineation of the clinical phenotype
-
Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome: delineation of the clinical phenotype. Am J Med Genet 1993;47:959-64
-
(1993)
Am J Med Genet
, vol.47
, pp. 959-964
-
-
Ireland, M.1
Donnai, D.2
Burn, J.3
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