Melki J - Search Results

1

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Boespflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Pham Dinh D, Dastugue B, Dautigny A. Boespflug-Tanguy O, et al. Among authors: melki j. Am J Hum Genet. 1994 Sep;55(3):461-7. Am J Hum Genet. 1994. PMID: 7915877 Free PMC article.

2

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

Petit C, Melki J, Levilliers J, Serville F, Weissenbach J, Maroteaux P. Petit C, et al. Among authors: melki j. Hum Genet. 1990 Jul;85(2):247-50. doi: 10.1007/BF00193206. Hum Genet. 1990. PMID: 2370057

3

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y, et al. Hazan J, et al. Among authors: melki j. Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569. Hum Mol Genet. 1994. PMID: 7833913

4

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Among authors: melki j. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.

5

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.

Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, Mas JL, Cabanis EA, Baudrimont M, Maciazek J, et al. Tournier-Lasserve E, et al. Among authors: melki j. Nat Genet. 1993 Mar;3(3):256-9. doi: 10.1038/ng0393-256. Nat Genet. 1993. PMID: 8485581

6

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Maystadt I, et al. Among authors: melki j. Hum Mutat. 2004 May;23(5):525-6. doi: 10.1002/humu.9241. Hum Mutat. 2004. PMID: 15108294

7

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J. Mejlachowicz D, et al. Among authors: melki j. Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365340 Free PMC article.

8

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y, et al. Melki J, et al. J Med Genet. 1992 Mar;29(3):171-4. doi: 10.1136/jmg.29.3.171. J Med Genet. 1992. PMID: 1348092 Free PMC article.

9

Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Hentati A, et al. Among authors: melki j. Genomics. 1992 Jan;12(1):155-7. doi: 10.1016/0888-7543(92)90419-s. Genomics. 1992. PMID: 1733853

10

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, et al. Melki J, et al. Nature. 1990 Apr 19;344(6268):767-8. doi: 10.1038/344767a0. Nature. 1990. PMID: 1970420

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