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Items: 41

1.

Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.

Altounian L, Perrin J, Fouyssac F, Fenneteau O, Da Costa L, Bahuau M, Leheup B, Jonveaux P, Lesesve JF.

Ann Biol Clin (Paris). 2015 Sep-Oct;73(5):587-90. doi: 10.1684/abc.2015.1078.

2.

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P.

PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov.

3.

[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].

Drouet A, Zagnoli F, Fassier T, Rannou F, Baverel F, Piraud M, Bahuau M, Petit F, Streichenberger N, Marcorelles P, Vital Durand D.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):613-24. doi: 10.1016/j.neurol.2013.02.006. Epub 2013 Sep 4. French.

PMID:
24011984
4.

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.

Moradkhani K, Mekki C, Bahuau M, Te VL, Holder M, Pissard S, Préhu C, Rose C, Wajcman H, Galactéros F.

Am J Hematol. 2012 Feb;87(2):208-10. doi: 10.1002/ajh.22218. Epub 2011 Dec 3.

5.

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.

Haematologica. 2009 Nov;94(11):1624-5. doi: 10.3324/haematol.2009.012971. Epub 2009 Oct 8. No abstract available.

6.

A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp).

Moradkhani K, Bahuau M, Préhu C, Martin N, Bimet C, Galactéros F, Wajcman H.

Blood Cells Mol Dis. 2009 Nov-Dec;43(3):226-9. doi: 10.1016/j.bcmd.2009.05.007. Epub 2009 Jul 25.

PMID:
19632868
7.

Neonatal screening for sickle cell disease in France.

Bardakdjian-Michau J, Bahuau M, Hurtrel D, Godart C, Riou J, Mathis M, Goossens M, Badens C, Ducrocq R, Elion J, Perini JM.

J Clin Pathol. 2009 Jan;62(1):31-3. doi: 10.1136/jcp.2008.058867. Erratum in: J Clin Pathol. 2009 Sep;62(9):864. Badens, C [added]; Ducrocq, R [added]; Elion, J [added]; Perini, J M [added].

PMID:
19103855
8.

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft.

Chevrier C, Bahuau M, Perret C, Iovannisci DM, Nelva A, Herman C, Vazquez MP, Francannet C, Robert-Gnansia E, Lammer EJ, Cordier S.

Am J Med Genet A. 2008 Sep 15;146A(18):2396-406. doi: 10.1002/ajmg.a.32505.

PMID:
18698632
9.

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M.

Am J Med Genet A. 2007 Dec 1;143A(23):2796-803.

PMID:
17994567
10.

Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts.

Chevrier C, Perret C, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Cordier S.

Am J Med Genet A. 2007 Jun 15;143A(12):1382-5. No abstract available.

PMID:
17506098
11.

Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts.

Chevrier C, Perret C, Bahuau M, Zhu H, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Finnell RH, Cordier S.

Am J Med Genet A. 2007 Feb 1;143A(3):248-57.

PMID:
17219389
12.

Occupational exposure to organic solvent mixtures during pregnancy and the risk of non-syndromic oral clefts.

Chevrier C, Dananché B, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Cordier S.

Occup Environ Med. 2006 Sep;63(9):617-23. Epub 2006 Apr 27.

13.

[Periconceptional folates and the prevention of orofacial clefts: role of dietary intakes in France].

Rouget F, Monfort C, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Cordier S.

Rev Epidemiol Sante Publique. 2005 Sep;53(4):351-60. French.

PMID:
16353510
14.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M.

Am J Med Genet A. 2006 Jan 1;140(1):62-9.

PMID:
16333843
15.

Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease.

Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, Beers MF, Bahuau M.

Respir Res. 2005 Jul 22;6:80.

16.

Anti-GM-CSF antibodies in paediatric pulmonary alveolar proteinosis.

Latzin P, Tredano M, Wüst Y, de Blic J, Nicolai T, Bewig B, Stanzel F, Köhler D, Bahuau M, Griese M.

Thorax. 2005 Jan;60(1):39-44.

17.

Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: an evaluation of the contribution of child and maternal genotypes.

Chevrier C, Perret C, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Cordier S.

Birth Defects Res A Clin Mol Teratol. 2005 Feb;73(2):114-22.

PMID:
15602753
18.

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.

Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Müller KM, Bahuau M, Beers MF.

Eur Respir J. 2004 Jul;24(1):30-9. Review.

19.

Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?

Gajdos V, Bahuau M, Robert-Gnansia E, Francannet C, Cordier S, Bonaïti-Pellié C.

Ann Genet. 2004 Jan-Mar;47(1):29-39.

PMID:
15050872
20.

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M.

Am J Med Genet A. 2004 Apr 1;126A(1):18-26.

PMID:
15039969
21.

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M.

Am J Med Genet A. 2003 Jun 15;119A(3):324-39.

PMID:
12784301
22.

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP.

Clin Genet. 2002 Dec;62(6):470-3.

PMID:
12485195
23.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC.

Nat Genet. 2002 Oct;32(2):285-9. Epub 2002 Sep 3.

24.

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

Houdayer C, Lourdaux J, Billette de Villemeur T, Royer-Legrain G, Bahuau M, Bonnefont JP, Feldmann D, Couderc R.

Genet Test. 2002 Summer;6(2):135-9.

PMID:
12215255
25.

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Houdayer C, Bonaïti-Pellié C, Erguy C, Soupre V, Dondon MG, Bürglen L, Cougoureux E, Couderc R, Vazquez MP, Bahuau M.

Am J Med Genet. 2001 Nov 15;104(1):86-92.

PMID:
11746036
26.

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.

Bahuau M, Pelet A, Vidaud D, Lamireau T, LeBail B, Munnich A, Vidaud M, Lyonnet S, Lacombe D.

J Med Genet. 2001 Sep;38(9):638-43. No abstract available.

27.

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.

Houdayer C, Portnoï MF, Vialard F, Soupre V, Crumière C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M.

Am J Med Genet. 2001 Aug 15;102(3):219-26.

PMID:
11484197
28.

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism.

Tredano M, De Blic J, Griese M, Fournet JC, Elion J, Bahuau M.

Clin Chem Lab Med. 2001 Feb;39(2):90-108. Review.

PMID:
11341756
29.

[Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis].

Tredano M, Blic JD, Griese M, Fournet JC, Elion J, Bahuau M.

Ann Biol Clin (Paris). 2001 Mar-Apr;59(2):131-48. Review. French.

30.

1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities.

Houdayer C, Soupre V, Karcenty B, Vazquez MP, Odent S, Lacombe D, Le Bouc Y, Munnich A, Bahuau M.

Am J Med Genet. 2000 Mar 13;91(2):161-3. No abstract available.

PMID:
10748420
31.

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

Bahuau M, Laurendeau I, Pelet A, Assouline B, Lamireau T, Taine L, Le Bail B, Vergnes P, Gallet S, Vidaud M, Lyonnet S, Lacombe D, Vidaud D.

J Med Genet. 2000 Feb;37(2):146-50. No abstract available.

32.

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M.

Hum Mutat. 1999;14(6):502-9.

PMID:
10571948
33.

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

Houdayer C, Soupre V, Rosenberg-Bourgin M, Martinez H, Tredano M, Feldmann D, Feingold J, Aymard P, Munnich A, Le Bouc Y, Vazquez MP, Bahuau M.

Ann Genet. 1999;42(2):69-74.

PMID:
10434119
34.

TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency.

Laurendeau I, Bahuau M, Vodovar N, Larramendy C, Olivi M, Bieche I, Vidaud M, Vidaud D.

Clin Chem. 1999 Jul;45(7):982-6.

35.

Orofacial cleft defects: inference from nature and nurture.

Houdayer C, Bahuau M.

Ann Genet. 1998;41(2):89-117. Review.

PMID:
9706339
36.

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

Bahuau M, Vidaud D, Jenkins RB, Bièche I, Kimmel DW, Assouline B, Smith JS, Alderete B, Cayuela JM, Harpey JP, Caille B, Vidaud M.

Cancer Res. 1998 Jun 1;58(11):2298-303.

37.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D.

Am J Med Genet. 1998 Jan 23;75(3):265-72.

PMID:
9475595
38.

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

Bahuau M, Vidaud D, Kujas M, Palangié A, Assouline B, Chaignaud-Lebreton M, Prieur M, Vidaud M, Harpey JP, Lafourcade J, Caille B.

Ann Genet. 1997;40(2):78-91.

PMID:
9259954
39.

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D.

Am J Med Genet. 1996 Dec 18;66(3):347-55.

PMID:
8985499
40.

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

Flintoff WF, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marçon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M.

Am J Med Genet. 1993 Jul 1;46(6):700-5.

PMID:
8362913
41.

In vitro infection of human macrophages with human T-cell leukemia virus type 1.

de Revel T, Mabondzo A, Gras G, Delord B, Roques P, Boussin F, Neveux Y, Bahuau M, Fleury HJ, Dormont D.

Blood. 1993 Mar 15;81(6):1598-606.

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