Ballabio A - Search Results

1

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. Franco B, et al. Among authors: ballabio a. Cell. 1995 Apr 7;81(1):15-25. doi: 10.1016/0092-8674(95)90367-4. Cell. 1995. PMID: 7720070 Free article.

2

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.

Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Guioli S, et al. Among authors: ballabio a. Nat Genet. 1992 Aug;1(5):337-40. doi: 10.1038/ng0892-337. Nat Genet. 1992. PMID: 1302031

3

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.

Ballabio A, Andria G. Ballabio A, et al. Hum Mol Genet. 1992 Jul;1(4):221-7. doi: 10.1093/hmg/1.4.221. Hum Mol Genet. 1992. PMID: 1303191 Review.

4

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, Bardoni B, Franco B, Wheeler D, Ballabio A, et al. Incerti B, et al. Among authors: ballabio a. Nat Genet. 1992 Dec;2(4):311-4. doi: 10.1038/ng1292-311. Nat Genet. 1992. PMID: 1303285

5

Physical mapping of 14 new DNA markers isolated from the human distal Xp region.

Wapenaar MC, Petit C, Basler E, Ballabio A, Henke A, Rappold GA, van Paassen HM, Blonden LA, van Ommen GJ. Wapenaar MC, et al. Among authors: ballabio a. Genomics. 1992 May;13(1):167-75. doi: 10.1016/0888-7543(92)90217-g. Genomics. 1992. PMID: 1349572

6

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Basler E, et al. Among authors: ballabio a. Am J Hum Genet. 1992 Mar;50(3):483-91. Am J Hum Genet. 1992. PMID: 1539590 Free PMC article.

7

The sulfatase gene family: cross-species PCR cloning using the MOPAC technique.

Grompe M, Pieretti M, Caskey CT, Ballabio A. Grompe M, et al. Among authors: ballabio a. Genomics. 1992 Apr;12(4):755-60. doi: 10.1016/0888-7543(92)90306-d. Genomics. 1992. PMID: 1572648

8

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Bick D, et al. Among authors: ballabio a. N Engl J Med. 1992 Jun 25;326(26):1752-5. doi: 10.1056/NEJM199206253262606. N Engl J Med. 1992. PMID: 1594017 Free article. No abstract available.

9

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.

Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Carrozzo R, et al. Among authors: ballabio a. Genomics. 1992 Jan;12(1):7-12. doi: 10.1016/0888-7543(92)90399-d. Genomics. 1992. PMID: 1733866

10

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, Ballabio A. Franco B, et al. Among authors: ballabio a. Nature. 1991 Oct 10;353(6344):529-36. doi: 10.1038/353529a0. Nature. 1991. PMID: 1922361

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