Bahuau M[au] - Search Results

Year	Number of Results
1993	2
1996	1
1997	1
1998	3
1999	3
2000	2
2001	5
2002	3
2003	1
2004	3
2005	4
2006	2
2007	3
2008	1
2009	3
2011	1
2012	1
2013	1
2014	1
2015	1
2020	1
2021	1
2022	0

1

Exome sequencing for diagnosis of congenital hemolytic anemia.

Mansour-Hendili L, Aissat A, Badaoui B, Sakka M, Gameiro C, Ortonne V, Wagner-Ballon O, Pissard S, Picard V, Ghazal K, Bahuau M, Guitton C, Mansour Z, Duplan M, Petit A, Costedoat-Chalumeau N, Michel M, Bartolucci P, Moutereau S, Funalot B, Galactéros F. Mansour-Hendili L, et al. Among authors: bahuau m. Orphanet J Rare Dis. 2020 Jul 8;15(1):180. doi: 10.1186/s13023-020-01425-5. Orphanet J Rare Dis. 2020. PMID: 32641076 Free PMC article.

2

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: bahuau m. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955

3

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. Tredano M, et al. Among authors: bahuau m. Clin Chem Lab Med. 2001 Feb;39(2):90-108. doi: 10.1515/CCLM.2001.018. Clin Chem Lab Med. 2001. PMID: 11341756 Free article. Review.

4

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. Brasch F, et al. Among authors: bahuau m. Eur Respir J. 2004 Jul;24(1):30-9. doi: 10.1183/09031936.04.00000104. Eur Respir J. 2004. PMID: 15293602 Free article. Review.

5

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. Bahuau M, et al. Am J Med Genet. 1998 Jan 23;75(3):265-72. Am J Med Genet. 1998. PMID: 9475595

6

[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. Tredano M, et al. Among authors: bahuau m. Ann Biol Clin (Paris). 2001 Mar-Apr;59(2):131-48. Ann Biol Clin (Paris). 2001. PMID: 11282516 Free article. Review. French.

7

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. Altounian L, et al. Among authors: bahuau m. Ann Biol Clin (Paris). 2015 Sep-Oct;73(5):587-90. doi: 10.1684/abc.2015.1078. Ann Biol Clin (Paris). 2015. PMID: 26489818 Free article.

8

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. Lirussi F, et al. Among authors: bahuau m. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567

9

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. Mamoune A, et al. Among authors: bahuau m. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.

10

Orofacial cleft defects: inference from nature and nurture.

Houdayer C, Bahuau M. Houdayer C, et al. Among authors: bahuau m. Ann Genet. 1998;41(2):89-117. Ann Genet. 1998. PMID: 9706339 Review.

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