Goossens M - Search Results

1

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.

Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V. Al-Sheikh M, et al. Among authors: goossens m. Haematologica. 2008 Jul;93(7):1072-5. doi: 10.3324/haematol.12260. Epub 2008 May 19. Haematologica. 2008. PMID: 18492694 Free article.

2

Chronic hemolytic anemia due to novel alpha-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect.

Préhu C, Moradkhani K, Riou J, Bahuau M, Launay P, Martin N, Wajcman H, Goossens M, Galactéros F. Préhu C, et al. Among authors: goossens m. Haematologica. 2009 Nov;94(11):1624-5. doi: 10.3324/haematol.2009.012971. Epub 2009 Oct 8. Haematologica. 2009. PMID: 19815833 Free PMC article. No abstract available.

3

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

Tchernitchko D, Goossens M, Wajcman H. Tchernitchko D, et al. Among authors: goossens m. Clin Chem. 2004 Nov;50(11):1974-8. doi: 10.1373/clinchem.2004.036053. Clin Chem. 2004. PMID: 15502081

4

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Pissard S, Max-Audit I, Skopinski L, Vasson A, Vivien P, Bimet C, Goossens M, Galacteros F, Wajcman H. Pissard S, et al. Among authors: goossens m. Br J Haematol. 2006 Jun;133(6):683-9. doi: 10.1111/j.1365-2141.2006.06076.x. Br J Haematol. 2006. PMID: 16704447 Free article.

5

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Costa C, Albuisson J, Le TH, Max-Audit I, Dinh KT, Tosi M, Goossens M, Pissard S. Costa C, et al. Among authors: goossens m. Haematologica. 2005 Jan;90(1):25-30. Haematologica. 2005. PMID: 15642665

6

Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.

Pissard S, de Montalembert M, Bachir D, Max-Audit I, Goossens M, Wajcman H, Bader-Meunier B. Pissard S, et al. Among authors: goossens m. J Pediatr. 2007 Apr;150(4):443-5. doi: 10.1016/j.jpeds.2007.01.039. J Pediatr. 2007. PMID: 17382129

7

PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.

Rouger H, Girodon E, Goossens M, Galactéros F, Cohen-Solal M. Rouger H, et al. Among authors: goossens m. Prenat Diagn. 1996 Feb;16(2):97-104. doi: 10.1002/(SICI)1097-0223(199602)16:2<97::AID-PD814>3.0.CO;2-O. Prenat Diagn. 1996. PMID: 8650134

8

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Riou J, Pissard S, Goossens M, Wajcman H. Riou J, et al. Among authors: goossens m. Int J Lab Hematol. 2015 Apr;37(2):279-86. doi: 10.1111/ijlh.12286. Epub 2014 Aug 11. Int J Lab Hematol. 2015. PMID: 25130136

9

Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M. Girodon E, et al. Among authors: goossens m. Ann Hematol. 1992 Oct;65(4):188-92. doi: 10.1007/BF01703113. Ann Hematol. 1992. PMID: 1420507

10

Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous.

Galacteros F, Girodon E, M'Rad A, Martin J, Goossens M, Jaber L, Cohen IJ, Tamary H, Goshen Y, Zaizov R, et al. Galacteros F, et al. Among authors: m rad a, goossens m. C R Acad Sci III. 1994 May;317(5):437-44. C R Acad Sci III. 1994. PMID: 7994622

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