Christiano AM - Search Results

1

Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.

Tadin M, Braverman E, Cianfarani S, Sobrino AJ, Levy B, Christiano AM, Warburton D. Tadin M, et al. Among authors: christiano am. Am J Med Genet. 2001 Jul 22;102(1):100-4. doi: 10.1002/1096-8628(20010722)102:1<100::aid-ajmg1396>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11471181

2

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM. Frank J, et al. Among authors: christiano am. J Med Genet. 1998 Mar;35(3):244-7. doi: 10.1136/jmg.35.3.244. J Med Genet. 1998. PMID: 9541112 Free PMC article.

3

Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.

Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM. Frank J, et al. Among authors: christiano am. Am J Med Genet. 1998 Aug 27;79(1):22-6. Am J Med Genet. 1998. PMID: 9738863

4

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.

Tadin-Strapps M, Salas-Alanis JC, Moreno L, Warburton D, Martinez-Mir A, Christiano AM. Tadin-Strapps M, et al. Among authors: christiano am. Clin Genet. 2003 May;63(5):418-22. doi: 10.1034/j.1399-0004.2003.00069.x. Clin Genet. 2003. PMID: 12752576

5

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz IM, Davalos NO, Alayan O, Liu J, Gilliam TC, Salas-Alanis JC, Christiano AM. Martinez-Mir A, et al. Among authors: christiano am. J Med Genet. 2003 Dec;40(12):872-8. doi: 10.1136/jmg.40.12.872. J Med Genet. 2003. PMID: 14684683 Free PMC article.

6

Fishing for new genes in skin biology: impact of cytogenetics on gene discovery.

Tadin-Strapps M, Warburton D, Salas-Alanis JC, Lopez-Cepeda LD, Christiano AM. Tadin-Strapps M, et al. Among authors: christiano am. Clin Genet. 2004 Aug;66(2):94-106. doi: 10.1111/j.0009-9163.2004.00301.x. Clin Genet. 2004. PMID: 15253757 Review.

7

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Tadin-Strapps M, Warburton D, Baumeister FA, Fischer SG, Yonan J, Gilliam TC, Christiano AM. Tadin-Strapps M, et al. Among authors: christiano am. Cytogenet Genome Res. 2004;107(1-2):68-76. doi: 10.1159/000079573. Cytogenet Genome Res. 2004. PMID: 15305058

8

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.

Martinez-Mir A, Zlotogorski A, Gordon D, Petukhova L, Mo J, Gilliam TC, Londono D, Haynes C, Ott J, Hordinsky M, Nanova K, Norris D, Price V, Duvic M, Christiano AM. Martinez-Mir A, et al. Among authors: christiano am. Am J Hum Genet. 2007 Feb;80(2):316-28. doi: 10.1086/511442. Epub 2007 Jan 5. Am J Hum Genet. 2007. PMID: 17236136 Free PMC article.

9

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM. Fantauzzo KA, et al. Among authors: christiano am. Hum Mol Genet. 2008 Nov 15;17(22):3539-51. doi: 10.1093/hmg/ddn247. Epub 2008 Aug 19. Hum Mol Genet. 2008. PMID: 18713754 Free PMC article.

10

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2).

Kim J, Lee G, Choi JR, Kurban M, Christiano AM, Levy B, Kim JH, Ma SH, Lee KA. Kim J, et al. Among authors: christiano am. J Dermatol Sci. 2010 Sep;59(3):204-6. doi: 10.1016/j.jdermsci.2010.07.006. Epub 2010 Jul 21. J Dermatol Sci. 2010. PMID: 20696554 No abstract available.

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