Grandchamp B - Search Results

1

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie; Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR. Denamur E, et al. Among authors: grandchamp b. Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25. Kidney Int. 2010. PMID: 19940839 Free article.

2

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N. Vuillaumier-Barrot S, et al. Among authors: grandchamp b. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009. Am J Hum Genet. 2012. PMID: 23217329 Free PMC article.

3

Denaturing gradient gel electrophoresis analysis for the detection of point mutations in the Chlamydia trachomatis major outer-membrane protein gene.

Sayada C, Denamur E, Grandchamp B, Orfila J, Elion J. Sayada C, et al. Among authors: grandchamp b. J Med Microbiol. 1995 Jul;43(1):14-25. doi: 10.1099/00222615-43-1-14. J Med Microbiol. 1995. PMID: 7608950

4

Reliability of PCR directly from stool samples: usefulness of an internal standard.

Cavé H, Mariani P, Grandchamp B, Elion J, Denamur E. Cavé H, et al. Among authors: grandchamp b. Biotechniques. 1994 May;16(5):809-10. Biotechniques. 1994. PMID: 8068331 No abstract available.

5

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.

Gérard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, Gérard-Blanluet M, Mayer M, Grandchamp B, Elion J. Gérard B, et al. Among authors: grandchamp b. Hum Mutat. 2000 Sep;16(3):253-63. doi: 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10980532

6

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B. Kannengiesser C, et al. Among authors: grandchamp b. Hum Mutat. 2008 Sep;29(9):E132-49. doi: 10.1002/humu.20820. Hum Mutat. 2008. PMID: 18546332

7

Fluorometric detection of HIV-1 genome through use of an internal control, inosine-substituted primers, and microtiter plate format.

Gérard B, Peponnet C, Brunie G, Cavé H, Denamur E, d'Auriol L, Monplaisir N, Simon F, Elion J, Grandchamp B. Gérard B, et al. Among authors: grandchamp b. Clin Chem. 1996 May;42(5):696-703. Clin Chem. 1996. PMID: 8653894

8

Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1.

Cavé H, Gérard B, Martin E, Guidal C, Devaux I, Weissenbach J, Elion J, Vilmer E, Grandchamp B. Cavé H, et al. Among authors: grandchamp b. Blood. 1995 Nov 15;86(10):3869-75. Blood. 1995. PMID: 7579355 Free article.

9

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias.

Guidal-Giroux C, Gérard B, Cavé H, Duval M, Rohrlich P, Elion J, Vilmer E, Grandchamp B. Guidal-Giroux C, et al. Among authors: grandchamp b. Br J Haematol. 1996 Feb;92(2):410-9. doi: 10.1046/j.1365-2141.1996.d01-1497.x. Br J Haematol. 1996. PMID: 8603008

10

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: grandchamp b. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21727005

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