Topaloglu H - Search Results

1

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Moghadaszadeh B, et al. Among authors: topaloglu h. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

2

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K, et al. Helbling-Leclerc A, et al. Among authors: topaloglu h. Nat Genet. 1995 Oct;11(2):216-8. doi: 10.1038/ng1095-216. Nat Genet. 1995. PMID: 7550355

3

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Hillaire D, et al. Among authors: topaloglu h. Hum Mol Genet. 1994 Sep;3(9):1657-61. doi: 10.1093/hmg/3.9.1657. Hum Mol Genet. 1994. PMID: 7833925

4

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P. Nissinen M, et al. Among authors: topaloglu h. Am J Hum Genet. 1996 Jun;58(6):1177-84. Am J Hum Genet. 1996. PMID: 8651294 Free PMC article.

5

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.

Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Fontaine B, et al. Among authors: topaloglu h. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312

6

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B, et al. Helbling-Leclerc A, et al. Among authors: topaloglu h. C R Acad Sci III. 1995 Dec;318(12):1245-52. C R Acad Sci III. 1995. PMID: 8745640

7

Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.

Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, Dinçer P, Lefranc G, Merlini L, Topaloglu H, Tomé FM, Cohen D, Jackson CE, Campbell KP, Fardeau M. Beckmann JS, et al. Among authors: topaloglu h. Neuromuscul Disord. 1996 Dec;6(6):455-62. doi: 10.1016/s0960-8966(96)00386-0. Neuromuscul Disord. 1996. PMID: 9027855

8

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. Among authors: topaloglu h. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

9

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Among authors: topaloglu h. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

10

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V. Tan E, et al. Among authors: topaloglu h. Neuromuscul Disord. 1997 Mar;7(2):85-9. doi: 10.1016/s0960-8966(96)00421-x. Neuromuscul Disord. 1997. PMID: 9131648

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