Deutsch S - Search Results

1

Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders.

Deutsch S, Darbellay R, Offord R, Frutiger A, Kister J, Wajcman H, Beris P. Deutsch S, et al. Am J Hematol. 1999 Jul;61(3):187-93. doi: 10.1002/(sici)1096-8652(199907)61:3<187::aid-ajh5>3.0.co;2-7. Am J Hematol. 1999. PMID: 10398311 Free article.

2

Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.

Beris P, Solenthaler M, Deutsch S, Darbellay R, Tobler A, Bochaton-Pialat ML, Gabbiani G. Beris P, et al. Among authors: deutsch s. Br J Haematol. 1999 Jun;105(4):1074-80. doi: 10.1046/j.1365-2141.1999.01451.x. Br J Haematol. 1999. PMID: 10554822 Free article.

3

Molecular pathology of thalassemia intermedia.

Beris P, Deutsch S, Darbellay R. Beris P, et al. Among authors: deutsch s. Hematol J. 2004;5 Suppl 3:S199-204. doi: 10.1038/sj.thj.6200453. Hematol J. 2004. PMID: 15190309 Review. No abstract available.

4

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P. Deutsch S, et al. Blood. 2003 Jul 15;102(2):529-34. doi: 10.1182/blood-2002-09-2783. Epub 2003 Mar 20. Blood. 2003. PMID: 12649151 Free article.

5

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.

Antonarakis SE, Lyle R, Deutsch S, Reymond A. Antonarakis SE, et al. Among authors: deutsch s. Int J Dev Biol. 2002 Jan;46(1):89-96. Int J Dev Biol. 2002. PMID: 11902692 Review.

6

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome.

Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE. Lyle R, et al. Among authors: deutsch s. Genome Res. 2004 Jul;14(7):1268-74. doi: 10.1101/gr.2090904. Genome Res. 2004. PMID: 15231743 Free PMC article.

7

Chromosome 21 and down syndrome: from genomics to pathophysiology.

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Antonarakis SE, et al. Among authors: deutsch s. Nat Rev Genet. 2004 Oct;5(10):725-38. doi: 10.1038/nrg1448. Nat Rev Genet. 2004. PMID: 15510164 Review.

8

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.

Ferrari SL, Deutsch S, Antonarakis SE. Ferrari SL, et al. Among authors: deutsch s. Curr Opin Lipidol. 2005 Apr;16(2):207-14. doi: 10.1097/01.mol.0000162326.62419.e4. Curr Opin Lipidol. 2005. PMID: 15767861 Review.

9

Detection of aneuploidies by paralogous sequence quantification.

Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE. Deutsch S, et al. J Med Genet. 2004 Dec;41(12):908-15. doi: 10.1136/jmg.2004.023184. J Med Genet. 2004. PMID: 15591276 Free PMC article.

10

Chromosome 21 and Down syndrome: the post-sequence era.

Antonarakis SE, Reymond A, Lyle R, Deutsch S, Dermitzakis ET. Antonarakis SE, et al. Among authors: deutsch s. Cold Spring Harb Symp Quant Biol. 2003;68:425-30. doi: 10.1101/sqb.2003.68.425. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338645 No abstract available.

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