Gilgenkrantz S - Search Results

1

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S. Bonaventure J, et al. Among authors: gilgenkrantz s. Hum Genet. 1992 Sep-Oct;90(1-2):164-8. doi: 10.1007/BF00210766. Hum Genet. 1992. PMID: 1358786

2

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Chery M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A. Chery M, et al. Among authors: gilgenkrantz s. Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829. Hum Genet. 1994. PMID: 8168840

3

Distal trisomy 14q. I. Clinical and cytogenetical studies.

Gilgenkrantz S, Vigneron J, Peter MO, Dufier JL, Teboul M, Chery M, Keyeux G, Lefranc MP. Gilgenkrantz S, et al. Hum Genet. 1990 Oct;85(6):612-6. doi: 10.1007/BF00193584. Hum Genet. 1990. PMID: 2227953 Review.

4

Chromosome rearrangements and human gene mapping.

Gilgenkrantz S, Philippe C, Chery M. Gilgenkrantz S, et al. Biomed Pharmacother. 1994;48(5-6):225-30. doi: 10.1016/0753-3322(94)90137-6. Biomed Pharmacother. 1994. PMID: 7999983

5

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.

van der Maarel SM, Scholten IH, Huber I, Philippe C, Suijkerbuijk RF, Gilgenkrantz S, Kere J, Cremers FP, Ropers HH. van der Maarel SM, et al. Among authors: gilgenkrantz s. Hum Mol Genet. 1996 Jul;5(7):887-97. doi: 10.1093/hmg/5.7.887. Hum Mol Genet. 1996. PMID: 8817323

6

Incontinentia pigmenti (type 1) and X;5 translocation.

Bitoun P, Philippe C, Cherif M, Mulcahy MT, Gilgenkrantz S. Bitoun P, et al. Among authors: gilgenkrantz s. Ann Genet. 1992;35(1):51-4. Ann Genet. 1992. PMID: 1610121 Review.

7

Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: gilgenkrantz s. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

8

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C, et al. Biancalana V, et al. Among authors: gilgenkrantz s. Am J Hum Genet. 1992 May;50(5):981-7. Am J Hum Genet. 1992. PMID: 1349200 Free PMC article.

9

Monosomy 21q: two cases of del(21q) and review of the literature.

Huret JL, Léonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, Labrune B, Gilgenkrantz S. Huret JL, et al. Among authors: gilgenkrantz s. Clin Genet. 1995 Sep;48(3):140-7. doi: 10.1111/j.1399-0004.1995.tb04074.x. Clin Genet. 1995. PMID: 8556821 Review.

10

[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands].

Cossée M, Moutou C, Biancalana V, Bouix JC, Plessis G, Delobel B, Croquette MF, Gilgenkrantz S, Lambert JC, Malpuech G, Stoll C, Lanoe JL, Pechevis M, Mandel JL. Cossée M, et al. Among authors: gilgenkrantz s. Arch Pediatr. 1997 Mar;4(3):227-36. doi: 10.1016/s0929-693x(97)87235-1. Arch Pediatr. 1997. PMID: 9181015 French.

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