-
1
-
-
0018416379
-
Genetic heterogeneity in osteogenesis imperfecta
-
Sillence DO, Senn A., Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16:101-116.
-
(1979)
J Med Genet
, vol.16
, pp. 101-116
-
-
Sillence, D.O.1
Senn, A.2
Danks, D.M.3
-
2
-
-
0025138995
-
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2
-
Sykes B., Ogilvie D., Wordsworth P., et al. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet 1990; 46:293-307.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 293-307
-
-
Sykes, B.1
Ogilvie, D.2
Wordsworth, P.3
-
3
-
-
0017529070
-
-
Bergstrom L. Osteogenesis imperfecta: otologic and maxillofacial aspects. Laryngoscope 1977; 87 (9 pt 2 suppl 6) :1-42.
-
Bergstrom L. Osteogenesis imperfecta: otologic and maxillofacial aspects. Laryngoscope 1977; 87 (9 pt 2 suppl 6) :1-42.
-
-
-
-
4
-
-
68249090393
-
-
Garretsen AJTM. Osteogenesis Imperfecta Type I. Otological and Clinical Aspects. Thesis. Nijmegen, The Netherlands: University of Nijmegen; 1997.
-
Garretsen AJTM. Osteogenesis Imperfecta Type I. Otological and Clinical Aspects. Thesis. Nijmegen, The Netherlands: University of Nijmegen; 1997.
-
-
-
-
5
-
-
0021904667
-
Osteogenesis imperfecta clinical features, hearing loss and stapedectomy. Biochemical, osteodensitometric, corneometric and histological aspects in comparison with otosclerosis
-
Pedersen U. Osteogenesis imperfecta clinical features, hearing loss and stapedectomy. Biochemical, osteodensitometric, corneometric and histological aspects in comparison with otosclerosis. Acta Otolaryngol Suppl 1985; 415:1-36.
-
(1985)
Acta Otolaryngol Suppl
, vol.415
, pp. 1-36
-
-
Pedersen, U.1
-
6
-
-
0030740399
-
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I
-
Garretsen AJ, Cremers CW, Huygen PL. Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. Ann Otol Rhinol Laryngol 1997; 106 (7 pt 1) :575-582.
-
(1997)
Ann Otol Rhinol Laryngol
, vol.106
, Issue.7 PART 1
, pp. 575-582
-
-
Garretsen, A.J.1
Cremers, C.W.2
Huygen, P.L.3
-
8
-
-
0014060513
-
Osteogenesis imperfecta and otosclerosis: New investigations
-
Altmann F., Kornfeld M. Osteogenesis imperfecta and otosclerosis: new investigations. Ann Otol Rhinol Laryngol 1967; 76:89-104.
-
(1967)
Ann Otol Rhinol Laryngol
, vol.76
, pp. 89-104
-
-
Altmann, F.1
Kornfeld, M.2
-
9
-
-
0021274458
-
Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients
-
Pedersen U. Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scand Audiol 1984; 13:67-74.
-
(1984)
Scand Audiol
, vol.13
, pp. 67-74
-
-
Pedersen, U.1
-
11
-
-
0036162101
-
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta
-
McKenna MJ, Kristiansen AG, Tropitzsch AS. Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. Ann Otol Rhinol Laryngol 2002; 111: 184-189.
-
(2002)
Ann Otol Rhinol Laryngol
, vol.111
, pp. 184-189
-
-
McKenna, M.J.1
Kristiansen, A.G.2
Tropitzsch, A.S.3
-
12
-
-
0014542077
-
Otosclerosis and osteogenesis imperfecta
-
Bretlau P., Jorgensen MB. Otosclerosis and osteogenesis imperfecta. Arch Otolaryngol 1969; 90:4-10.
-
(1969)
Arch Otolaryngol
, vol.90
, pp. 4-10
-
-
Bretlau, P.1
Jorgensen, M.B.2
-
13
-
-
84942185003
-
Surgery and histopathology of the stapes in osteogenesis imperfecta tarda
-
Brosnan M., Burns H., Jahn AF, Hawke M. Surgery and histopathology of the stapes in osteogenesis imperfecta tarda. Arch Otolaryngol 1977; 103:294-298.
-
(1977)
Arch Otolaryngol
, vol.103
, pp. 294-298
-
-
Brosnan, M.1
Burns, H.2
Jahn, A.F.3
Hawke, M.4
-
14
-
-
0015717305
-
Comparative biochemical study of otosclerosis and osteogenesis imperfecta
-
Holdsworth CE, Endahl GL, Soifer N., Richardson KE, Eyring EJ. Comparative biochemical study of otosclerosis and osteogenesis imperfecta. Arch Otolaryngol 1973; 98: 336-339.
-
(1973)
Arch Otolaryngol
, vol.98
, pp. 336-339
-
-
Holdsworth, C.E.1
Endahl, G.L.2
Soifer, N.3
Richardson, K.E.4
Eyring, E.J.5
-
16
-
-
0026408989
-
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I
-
Garretsen TJ, Cremers CW. Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. Ann N Y Acad Sci 1991; 630:240-248.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 240-248
-
-
Garretsen, T.J.1
Cremers, C.W.2
-
17
-
-
0019994983
-
Findings and long-term surgical results in the hearing loss of osteogenesis imperfecta
-
Shea JJ, Postma DS. Findings and long-term surgical results in the hearing loss of osteogenesis imperfecta. Arch Otolaryngol 1982; 108:467-470.
-
(1982)
Arch Otolaryngol
, vol.108
, pp. 467-470
-
-
Shea, J.J.1
Postma, D.S.2
-
18
-
-
0025343413
-
Ear surgery in osteogenesis imperfecta. Clinical findings and short-term and longterm results
-
Garretsen TJ, Cremers CW. Ear surgery in osteogenesis imperfecta. Clinical findings and short-term and longterm results. Arch Otolaryngol Head Neck Surg 1990; 116:317-323.
-
(1990)
Arch Otolaryngol Head Neck Surg
, vol.116
, pp. 317-323
-
-
Garretsen, T.J.1
Cremers, C.W.2
-
19
-
-
1542515000
-
Stapes surgery in osteogenesis imperfecta in Finland
-
Kuurila K., Pynnonen S., Grenman R. Stapes surgery in osteogenesis imperfecta in Finland. Ann Otol Rhinol Laryngol 2004; 113 (3 pt 1) :187-193.
-
(2004)
Ann Otol Rhinol Laryngol
, vol.113
, Issue.3 PART 1
, pp. 187-193
-
-
Kuurila, K.1
Pynnonen, S.2
Grenman, R.3
-
20
-
-
0141677662
-
Stapes surgery in osteogenesis imperfecta: Results of a new series
-
van der Rijt AJ, Cremers CW. Stapes surgery in osteogenesis imperfecta: results of a new series. Otol Neurotol 2003; 24:717-722.
-
(2003)
Otol Neurotol
, vol.24
, pp. 717-722
-
-
van der Rijt, A.J.1
Cremers, C.W.2
-
21
-
-
68249126699
-
-
Dalgleish R. A. database of osteogenesis imperfecta and type III collagen mutations. [University of Leicaster Web site]. Updated August 6, 2008. Available at: http://www.le.ac.uk/genetics/collagen. Accessed September 18, 2008.
-
Dalgleish R. A. database of osteogenesis imperfecta and type III collagen mutations. [University of Leicaster Web site]. Updated August 6, 2008. Available at: http://www.le.ac.uk/genetics/collagen. Accessed September 18, 2008.
-
-
-
-
22
-
-
0025719856
-
Hearing gain after stapedotomy, partial platinectomy, or total stapedectomy for otosclerosis
-
Cremers CW, Beusen JM, Huygen PL. Hearing gain after stapedotomy, partial platinectomy, or total stapedectomy for otosclerosis. Ann Otol Rhinol Laryngol 1991; 100: 959-961.
-
(1991)
Ann Otol Rhinol Laryngol
, vol.100
, pp. 959-961
-
-
Cremers, C.W.1
Beusen, J.M.2
Huygen, P.L.3
-
23
-
-
0035191289
-
-
Fisch U., Acar GO, Huber AM. Malleostapedotomy in revision surgery for otosclerosis. Otol Neurotol 2001; 22: 776-785.
-
Fisch U., Acar GO, Huber AM. Malleostapedotomy in revision surgery for otosclerosis. Otol Neurotol 2001; 22: 776-785.
-
-
-
-
24
-
-
0029377758
-
-
Monsell EM. New and revised reporting guidelines from the Committee on Hearing and Equilibrium, American Academy of Otolaryngology-Head and Neck Surgery Foundation, Inc. Otolaryngol Head Neck Surg 1995; 113:176-178.
-
Monsell EM. New and revised reporting guidelines from the Committee on Hearing and Equilibrium, American Academy of Otolaryngology-Head and Neck Surgery Foundation, Inc. Otolaryngol Head Neck Surg 1995; 113:176-178.
-
-
-
-
25
-
-
3442883059
-
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
-
Hartikka H., Kuurila K., Korkko J., et al. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat 2004; 24:147-154.
-
(2004)
Hum Mutat
, vol.24
, pp. 147-154
-
-
Hartikka, H.1
Kuurila, K.2
Korkko, J.3
-
26
-
-
0028050102
-
Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
-
Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994; 55: 638-647.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 638-647
-
-
Willing, M.C.1
Deschenes, S.P.2
Scott, D.A.3
-
27
-
-
33846603716
-
Stapes surgery in Japanese patients with osteogenesis imperfecta
-
Doi K., Nishimura H., Ohta Y., Kubo T. Stapes surgery in Japanese patients with osteogenesis imperfecta. Adv Otorhinolaryngol 2007; 65:226-230.
-
(2007)
Adv Otorhinolaryngol
, vol.65
, pp. 226-230
-
-
Doi, K.1
Nishimura, H.2
Ohta, Y.3
Kubo, T.4
-
28
-
-
0014261238
-
Loss of hearing following the syndrome of Van der Hoeve-de Kleyn
-
Opheim O. Loss of hearing following the syndrome of Van der Hoeve-de Kleyn. Acta Otolaryngol 1968; 65:337-344.
-
(1968)
Acta Otolaryngol
, vol.65
, pp. 337-344
-
-
Opheim, O.1
-
29
-
-
0015011874
-
Surgical findings in van der Hoeve's syndrome
-
Kosoy J., Maddox HE III. Surgical findings in van der Hoeve's syndrome. Arch Otolaryngol 1971; 93:115-122.
-
(1971)
Arch Otolaryngol
, vol.93
, pp. 115-122
-
-
Kosoy, J.1
Maddox III, H.E.2
-
30
-
-
0033946842
-
-
Ferekidis E., Stavroulaki P., Vossinakis I., Yiotakis J., Manolopoulos L., Adamopoulos G. Stapedotomy in osteogenesis imperfecta patients. J Laryngol Otol 2000; 114:424-428.
-
Ferekidis E., Stavroulaki P., Vossinakis I., Yiotakis J., Manolopoulos L., Adamopoulos G. Stapedotomy in osteogenesis imperfecta patients. J Laryngol Otol 2000; 114:424-428.
-
-
-
-
31
-
-
24944480249
-
-
Vincent R., Gratacap B., Oates J., Sperling NM. Stapedotomy in osteogenesis imperfecta: a prospective study of 23 consecutive cases. Otol Neurotol 2005; 26:859-865.
-
Vincent R., Gratacap B., Oates J., Sperling NM. Stapedotomy in osteogenesis imperfecta: a prospective study of 23 consecutive cases. Otol Neurotol 2005; 26:859-865.
-
-
-
-
32
-
-
0024841998
-
Stapes surgery in osteogenesis imperfecta
-
Cremers C., Garretsen T. Stapes surgery in osteogenesis imperfecta. Am J Otol 1989; 10:474-476.
-
(1989)
Am J Otol
, vol.10
, pp. 474-476
-
-
Cremers, C.1
Garretsen, T.2
-
33
-
-
0026019743
-
Stapes surgery in osteogenesis imperfecta: Analysis of postoperative hearing loss
-
Garretsen TJ, Cremers CW. Stapes surgery in osteogenesis imperfecta: analysis of postoperative hearing loss. Ann Otol Rhinol Laryngol 1991; 100:120-130.
-
(1991)
Ann Otol Rhinol Laryngol
, vol.100
, pp. 120-130
-
-
Garretsen, T.J.1
Cremers, C.W.2
|