Demczuk S - Search Results

1

Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.

Demczuk S, Thomas G, Aurias A. Demczuk S, et al. Hum Mol Genet. 1996 May;5(5):633-8. doi: 10.1093/hmg/5.5.633. Hum Mol Genet. 1996. PMID: 8733130

2

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Demczuk S, Lévy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G, et al. Demczuk S, et al. Hum Genet. 1995 Jul;96(1):9-13. doi: 10.1007/BF00214179. Hum Genet. 1995. PMID: 7607662 Review.

3

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A. Demczuk S, et al. Hum Mol Genet. 1995 Apr;4(4):551-8. doi: 10.1093/hmg/4.4.551. Hum Mol Genet. 1995. PMID: 7633403

4

Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.

Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, Aurias A. Demczuk S, et al. Ann Genet. 1994;37(2):60-5. Ann Genet. 1994. PMID: 7985979

5

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.

Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien JP, Rouleau GA. Aubry M, et al. Among authors: demczuk s. Hum Mol Genet. 1993 Oct;2(10):1583-7. doi: 10.1093/hmg/2.10.1583. Hum Mol Genet. 1993. PMID: 8268910

6

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Debrus S, Berger G, de Meeus A, Sauer U, Guillaumont S, Voisin M, Bozio A, Demczuk S, Aurias A, Bouvagnet P. Debrus S, et al. Among authors: demczuk s. Hum Genet. 1996 Feb;97(2):138-44. doi: 10.1007/BF02265254. Hum Genet. 1996. PMID: 8566942

7

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Levy A, Demczuk S, Aurias A, Depétris D, Mattei MG, Philip N. Levy A, et al. Among authors: demczuk s. Hum Mol Genet. 1995 Dec;4(12):2417-9. doi: 10.1093/hmg/4.12.2417. Hum Mol Genet. 1995. PMID: 8634722 No abstract available.

8

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

Demczuk S, Aurias A. Demczuk S, et al. Ann Genet. 1995;38(2):59-76. Ann Genet. 1995. PMID: 7486827 Review.

9

Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.

Lorain S, Demczuk S, Lamour V, Toth S, Aurias A, Roe BA, Lipinski M. Lorain S, et al. Among authors: demczuk s. Genome Res. 1996 Jan;6(1):43-50. doi: 10.1101/gr.6.1.43. Genome Res. 1996. PMID: 8681138 Free article.

10

Physical mapping of 30 CA repeats on human chromosome 22.

Demczuk S, Delattre O, Vignal A, Weissenbach J, Thomas G, Aurias A. Demczuk S, et al. Genomics. 1995 May 20;27(2):345-7. doi: 10.1006/geno.1995.1053. Genomics. 1995. PMID: 7558003

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