Bachner L - Search Results

1

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M, et al. Romero NB, et al. Among authors: bachner l. C R Acad Sci III. 1994 Jan;317(1):70-6. C R Acad Sci III. 1994. PMID: 7987694

2

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

el Kerch F, Sefiani A, Azibi K, Boutaleb N, Yahyaoui M, Bentahila A, Vinet MC, Leturcq F, Bachner L, Beckmann J, et al. el Kerch F, et al. Among authors: bachner l. J Med Genet. 1994 Apr;31(4):342-3. doi: 10.1136/jmg.31.4.342. J Med Genet. 1994. PMID: 8071965 Free PMC article.

3

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.

Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, et al. Azibi K, et al. Among authors: bachner l. Hum Mol Genet. 1993 Sep;2(9):1423-8. doi: 10.1093/hmg/2.9.1423. Hum Mol Genet. 1993. PMID: 8242065

4

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.

Dodé C, Dürr A, Pêcheux C, Mouret JF, Belal S, Bachner L, Agid Y, Kaplan JC, Brice A, Feingold J. Dodé C, et al. Among authors: bachner l. C R Acad Sci III. 1993 Nov;316(11):1374-80. C R Acad Sci III. 1993. PMID: 8087617

5

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus.

Bachner L, Vinet MC, Lacave R, Babron MC, Rondeau E, Sraer JD, Chevet D, Kaplan JC. Bachner L, et al. Hum Genet. 1990 Jul;85(2):221-7. doi: 10.1007/BF00193200. Hum Genet. 1990. PMID: 2370053

6

Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.

Vinet MC, Dodé C, Pascal O, Monnier N, Rochette J, Bachner L. Vinet MC, et al. Among authors: bachner l. Hum Genet. 1989 Aug;83(1):55-7. doi: 10.1007/BF00274148. Hum Genet. 1989. PMID: 2767679

7

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J. des Portes V, et al. Among authors: bachner l. J Med Genet. 1997 Mar;34(3):177-83. doi: 10.1136/jmg.34.3.177. J Med Genet. 1997. PMID: 9132485 Free PMC article.

8

A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. des Portes V, et al. Among authors: bachner l. Am J Hum Genet. 1997 Apr;60(4):903-9. Am J Hum Genet. 1997. PMID: 9106537 Free PMC article.

9

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J. des Portes V, et al. Among authors: bachner l. Am J Med Genet. 1996 Jul 12;64(1):69-72. doi: 10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826451

10

Mapping of a gene for long QT syndrome to chromosome 4q25-27.

Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al. Schott JJ, et al. Among authors: bachner l. Am J Hum Genet. 1995 Nov;57(5):1114-22. Am J Hum Genet. 1995. PMID: 7485162 Free PMC article.

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