Topaloglu H - Search Results

1

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Cormand B, et al. Among authors: topaloglu h. Am J Hum Genet. 1999 Jan;64(1):126-35. doi: 10.1086/302206. Am J Hum Genet. 1999. PMID: 9915951 Free PMC article.

2

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

3

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.

4

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

5

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

6

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Richard I, et al. Among authors: topaloglu h. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.

7

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: topaloglu h. Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882. Am J Hum Genet. 1998. PMID: 9585610 Free PMC article.

8

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.

Topaloğlu H, Talim B, Vignier N, Helbling-Leclerc AH, Yetük M, Afşin IE, Cağlar M, Kale G, Guicheney P. Topaloğlu H, et al. Neuromuscul Disord. 1998 May;8(3-4):169-74. doi: 10.1016/s0960-8966(98)00013-3. Neuromuscul Disord. 1998. PMID: 9631397

9

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Brockington M, et al. Among authors: topaloglu h. Am J Hum Genet. 2000 Feb;66(2):428-35. doi: 10.1086/302775. Am J Hum Genet. 2000. PMID: 10677302 Free PMC article.

10

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.

Talim B, Kale G, Topaloglu H, Akçören Z, Caglar M, Gögüş S, Elkay M. Talim B, et al. Among authors: topaloglu h. Pediatr Dev Pathol. 2000 Mar-Apr;3(2):168-76. doi: 10.1007/s100240050021. Pediatr Dev Pathol. 2000. PMID: 10679036

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