Baumann C - Search Results

1

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A. Titomanlio L, et al. Among authors: baumann c. Eur J Hum Genet. 2006 Aug;14(8):971-4. doi: 10.1038/sj.ejhg.5201635. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724010

2

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: baumann c. Eur J Hum Genet. 2005 Apr;13(4):409-13. doi: 10.1038/sj.ejhg.5201358. Eur J Hum Genet. 2005. PMID: 15702131

3

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S. Holder-Espinasse M, et al. Among authors: baumann c. Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622331 Free PMC article.

4

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. Dupont C, et al. Among authors: baumann c. Eur J Hum Genet. 2003 Jun;11(6):452-6. doi: 10.1038/sj.ejhg.5200984. Eur J Hum Genet. 2003. PMID: 12774038

5

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. Titomanlio L, et al. Among authors: baumann c. Am J Med Genet A. 2005 Sep 1;137A(3):332-5. doi: 10.1002/ajmg.a.30878. Am J Med Genet A. 2005. PMID: 16096999 Review.

6

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.

Titomanlio L, Baumann C, Bonyhay G, Huten Y, Oury JF, Vuillard E, Garel C, Terdjman P, Verloes A, Delezoide AL. Titomanlio L, et al. Among authors: baumann c. Am J Med Genet A. 2005 Sep 15;138(1):1-5. doi: 10.1002/ajmg.a.30914. Am J Med Genet A. 2005. PMID: 16097005

7

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Hadchouel A, Bellaiche M, Baumann C, Darnaud G, El Ghoneimi A, Ferkdadji L, Elmaleh M, Verloes A. Hadchouel A, et al. Among authors: baumann c. Eur J Med Genet. 2005 Oct-Dec;48(4):367-76. doi: 10.1016/j.ejmg.2005.05.006. Epub 2005 Jun 16. Eur J Med Genet. 2005. PMID: 16378921

8

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

Bélien V, Gérard-Blanluet M, Serero S, Le Dû N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A. Bélien V, et al. Among authors: baumann c. Am J Med Genet A. 2008 Jul 15;146A(14):1871-4. doi: 10.1002/ajmg.a.32392. Am J Med Genet A. 2008. PMID: 18553551

9

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A. Poirsier-Violle C, et al. Among authors: baumann c. Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19. Eur J Med Genet. 2013. PMID: 23337768

10

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A. Al Ageeli E, et al. Among authors: baumann c. Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12. Eur J Med Genet. 2014. PMID: 24239951

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