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Items: 1 to 20 of 209

1.

Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).

Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L.

Otol Neurotol. 2001 Jul;22(4):506-11.

PMID:
11449109
2.

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.

Nat Genet. 1996 Oct;14(2):177-80.

PMID:
8841189
3.

Temporal bone histopathologic abnormalities associated with mitochondrial mutation T7511C.

Ishikawa K, Tamagawa Y, Takahashi K, Iino Y, Murakami Y, Kakizaki K, Kimura H, Kusakari J, Hara A, Ichimura K.

Laryngoscope. 2006 Nov;116(11):1982-6.

PMID:
17075421
4.

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K.

Ophthalmic Genet. 2001 Dec;22(4):207-23.

PMID:
11803487
5.

Otopathology in Mohr-Tranebjaerg syndrome.

Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L.

Laryngoscope. 2007 Jul;117(7):1202-8.

6.

Histopathologic features of the temporal bone in usher syndrome type I.

Wagenaar M, Schuknecht H, Nadol J Jr, Benraad-Van Rens M, Pieke-Dahl S, Kimberling W, Cremers C.

Arch Otolaryngol Head Neck Surg. 2000 Aug;126(8):1018-23. Review.

PMID:
10922238
7.

Cockayne syndrome--an audiologic and temporal bone analysis.

Shemen LJ, Mitchell DP, Farkashidy J.

Am J Otol. 1984 Apr;5(4):300-7.

PMID:
6720882
8.

Temporal bone histopathology in alport syndrome.

Merchant SN, Burgess BJ, Adams JC, Kashtan CE, Gregory MC, Santi PA, Colvin R, Collins B, Nadol JB Jr.

Laryngoscope. 2004 Sep;114(9):1609-18.

PMID:
15475791
9.

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.

Brookes JT, Kanis AB, Tan LY, Tranebjaerg L, Vore A, Smith RJ.

Int J Pediatr Otorhinolaryngol. 2008 Jan;72(1):121-6. Epub 2007 Oct 15.

PMID:
17936919
10.

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.

Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

PMID:
18952432
11.

Pathology and pathophysiology of idiopathic sudden sensorineural hearing loss.

Merchant SN, Adams JC, Nadol JB Jr.

Otol Neurotol. 2005 Mar;26(2):151-60.

PMID:
15793397
12.

Cochleosaccular dysplasia: a morphometric and histopathologic study in a series of temporal bones.

Sampaio AL, Cureoglu S, Schachern PA, Kusunoki T, Paparella MM, Oliveira CA.

Otol Neurotol. 2004 Jul;25(4):530-5.

PMID:
15241232
13.

[Temporal bone histopathology exhibiting cochleosaccular degeneration in a patient with profound deafness].

Saigusa H, Iino Y, Nakamoto Y, Miyazawa T, Murakami Y, Kodera K.

Nihon Jibiinkoka Gakkai Kaiho. 2004 Mar;107(3):195-8. Japanese.

PMID:
15103945
14.
15.

Pattern of degeneration of the spiral ganglion cell and its processes in the C57BL/6J mouse.

White JA, Burgess BJ, Hall RD, Nadol JB.

Hear Res. 2000 Mar;141(1-2):12-8.

PMID:
10713491
16.

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M.

Eur J Hum Genet. 2000 Jun;8(6):464-7.

17.

Temporal bone histopathologic findings in a case of interstitial deletion of the long arm of chromosome 2 [del(2) (q31q33)].

Kondo K, Kaga K, Ogawa Y, Fukushima Y.

Int J Pediatr Otorhinolaryngol. 1999 Apr 25;48(1):31-7.

PMID:
10365970
18.
20.

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF.

Brain. 2003 Aug;126(Pt 8):1814-20. Epub 2003 Jun 4. Review.

PMID:
12805099

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