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Results:
1-23
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Results: 23
Authors:
Moghadaszadeh, B
Petit, N
Jaillard, C
Brockington, M
Roy, SQ
Merlini, L
Romero, N
Estournet, B
Desguerre, I
Chaigne, D
Muntoni, F
Topaloglu, H
Guicheney, P
Citation: B. Moghadaszadeh et al., Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, NAT GENET, 29(1), 2001, pp. 17-18
Authors:
Dogulu, CF
Kansu, T
Seyrantepe, V
Ozguc, M
Topaloglu, H
Johns, DR
Citation: Cf. Dogulu et al., Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population, EYE, 15, 2001, pp. 183-188
Authors:
Bingol-Kologlu, M
Tanyel, FC
Akcoren, Z
Topaloglu, H
Gogus, S
Buyukpamukcu, N
Hicsonmez, A
Citation: M. Bingol-kologlu et al., A comparative histopathologic and immunohistopathologic evaluation of cremaster muscles from boys with various inguinoscrotal pathologies, EUR J PED S, 11(2), 2001, pp. 110-115
Authors:
Gucuyener, K
Ozgul, K
Paternotte, C
Erdem, H
Prud'homme, JF
Ozguc, M
Topaloglu, H
Citation: K. Gucuyener et al., Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelatedTurkish families, NEUROPEDIAT, 32(3), 2001, pp. 142-146
Authors:
Cormand, B
Pihko, H
Bayes, M
Valanne, L
Santavuori, P
Talim, B
Gershoni-Baruch, R
Ahmad, A
van Bokhoven, H
Brunner, HG
Voit, T
Topaloglu, H
Dobyns, WB
Lehesjoki, AE
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
Authors:
Talim, B
Kale, G
Topaloglu, H
Akcoren, Z
Caglar, M
Gogus, S
Elkay, M
Citation: B. Talim et al., Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy, PEDIATR D P, 3(2), 2000, pp. 168-176
Authors:
Nicole, S
Davoine, CS
Topaloglu, H
Cattolico, L
Barral, D
Beighton, P
Ben Hamida, C
Hammouda, H
Cruaud, C
White, PS
Samson, D
Urtizberea, JA
Lehmann-Horn, F
Weissenbach, J
Hentati, F
Fontaine, B
Citation: S. Nicole et al., Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia), NAT GENET, 26(4), 2000, pp. 480-483
Authors:
Bomont, P
Cavalier, L
Blondeau, F
Hamida, CB
Belal, S
Tazir, M
Demir, E
Topaloglu, H
Korinthenberg, R
Tuysuz, B
Landrieu, P
Hentati, F
Koenig, M
Citation: P. Bomont et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy, NAT GENET, 26(3), 2000, pp. 370-374
Authors:
Seyrantepe, V
Topaloglu, H
Citation: V. Seyrantepe et H. Topaloglu, Diagnosis of quantitative mitochondrial DNA defects by rapidly prepared whole mitochondrial DNA probe, DIAGN MOL P, 9(2), 2000, pp. 81-83
Authors:
Cavalier, L
BenHamida, C
Amouri, R
Belal, S
Bomont, P
Lagarde, N
Gressin, L
Callen, D
Demir, E
Topaloglu, H
Landrieu, P
Ioos, C
Ben Hamida, M
Koenig, M
Hentati, F
Citation: L. Cavalier et al., Giant axonal neuropathy locus refinement to a < 590 kb critical interval, EUR J HUM G, 8(7), 2000, pp. 527-534
Authors:
Talim, B
Ferreiro, A
Cormand, B
Vignier, N
Oto, A
Gogus, S
Cila, A
Lehesjoki, AE
Pihko, H
Guicheney, P
Topaloglu, H
Citation: B. Talim et al., Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci, NEUROMUSC D, 10(8), 2000, pp. 548-552
Authors:
Dincer, P
Bonnemann, CG
Aker, OE
Akcoren, Z
Nigro, V
Kunkel, LM
Topaloglu, H
Citation: P. Dincer et al., A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F, NEUROMUSC D, 10(4-5), 2000, pp. 247-250
Authors:
Dincer, P
Akcoren, Z
Demir, E
Richard, I
Sancak, O
Kale, G
Ozme, S
Karaduman, A
Tan, E
Urtizberea, JA
Beckmann, JS
Topaloglu, H
Citation: P. Dincer et al., A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families, J MED GENET, 37(5), 2000, pp. 361-367
Authors:
Brockington, M
Sewry, CA
Herrmann, R
Naom, I
Dearlove, A
Rhodes, M
Topaloglu, H
Dubowitz, V
Voit, T
Muntoni, F
Citation: M. Brockington et al., Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42, AM J HU GEN, 66(2), 2000, pp. 428-435
Authors:
Apak, RA
Kose, G
Anlar, B
Turanli, G
Topaloglu, H
Ozdirim, E
Citation: Ra. Apak et al., Acute disseminated encephalomyelitis in childhood: Report of 10 cases, J CHILD NEU, 14(3), 1999, pp. 198-201
Authors:
Seyrantepe, V
Kale, G
Topaloglu, H
Alikasifoglu, A
Ozguc, M
Citation: V. Seyrantepe et al., Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers, BRAIN DEVEL, 21(6), 1999, pp. 413-415
Authors:
Erdem, H
Pehlivan, S
Topaloglu, H
Ozguc, M
Citation: H. Erdem et al., Deletion analysis in Turkish patients with spinal muscular atrophy, BRAIN DEVEL, 21(2), 1999, pp. 86-89
Authors:
Nicole, S
White, PS
Topaloglu, H
Beigthon, P
Salih, M
Hentati, F
Fontaine, B
Citation: S. Nicole et al., The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene, HUM GENET, 105(1-2), 1999, pp. 98-103
Authors:
Alikasifoglu, M
Topaloglu, H
Tuncbilek, E
Ceviz, M
Anar, B
Demir, E
Ozme, S
Citation: M. Alikasifoglu et al., Clinical and genetic correlate in childhood onset Friedreich ataxia, NEUROPEDIAT, 30(2), 1999, pp. 72-76
Authors:
Richard, I
Roudaut, C
Saenz, A
Pogue, R
Grimbergen, JEMA
Anderson, LVB
Beley, C
Cobo, AM
de Diego, C
Eymard, B
Gallano, P
Ginjaar, HB
Lasa, A
Pollitt, C
Topaloglu, H
Urtizberea, JA
de Visser, M
van der Kooi, A
Bushby, K
Bakker, E
de Munain, AL
Fardeau, M
Beckmann, JS
Citation: I. Richard et al., Calpainopathy - A survey of mutations and polymorphisms, AM J HU GEN, 64(6), 1999, pp. 1524-1540
Authors:
Corman, B
Avela, K
Pihko, H
Santavuori, P
Talim, B
Topaloglu, H
de la Chapelle, A
Lehesjoki, AE
Citation: B. Corman et al., Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping, AM J HU GEN, 64(1), 1999, pp. 126-135
Authors:
Kupeli, B
Yalcinkaya, F
Topaloglu, H
Karabacak, O
Gunlusoy, B
Unal, S
Citation: B. Kupeli et al., Efficacy of transurethral electrovaporization of the prostate with respectto standard transurethral resection, J ENDOUROL, 12(6), 1998, pp. 591-594
Authors:
Dincer, P
Piccolo, F
Leturcq, F
Kaplan, JC
Jeanpierre, M
Topaloglu, H
Citation: P. Dincer et al., Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C, PRENAT DIAG, 18(12), 1998, pp. 1300-1303
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