Baumann C - Search Results

1

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A. Sznajer Y, et al. Among authors: baumann c. Eur J Pediatr. 2003 Dec;162(12):863-7. doi: 10.1007/s00431-003-1317-5. Epub 2003 Sep 30. Eur J Pediatr. 2003. PMID: 14648217 Review.

2

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Among authors: baumann c. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052

3

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

4

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cavé H, Verloes A. Sznajer Y, et al. Among authors: baumann c. Pediatrics. 2007 Jun;119(6):e1325-31. doi: 10.1542/peds.2006-0211. Epub 2007 May 21. Pediatrics. 2007. PMID: 17515436

5

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Kraoua L, Journel H, Bonnet P, Amiel J, Pouvreau N, Baumann C, Verloes A, Cavé H. Kraoua L, et al. Among authors: baumann c. Am J Med Genet A. 2012 Oct;158A(10):2407-11. doi: 10.1002/ajmg.a.35513. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887781

6

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

7

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Cavé H, et al. Among authors: baumann c. Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757980 Free PMC article.

8

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A. Morin G, et al. Among authors: baumann c. Clin Dysmorphol. 2003 Oct;12(4):237-40. doi: 10.1097/00019605-200310000-00005. Clin Dysmorphol. 2003. PMID: 14564210 Review.

9

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Verloes A, Misson JP, Gillet P, Baumann C, Spiritus M, Deprez M. Verloes A, et al. Among authors: baumann c. Ann Genet. 2003 Oct-Dec;46(4):449-52. doi: 10.1016/s0003-3995(03)00018-2. Ann Genet. 2003. PMID: 14659780

10

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Verloes A, Garel C, Robertson S, Le Merrer M, Baumann C. Verloes A, et al. Among authors: baumann c. Am J Med Genet A. 2005 Aug 30;137(2):199-203. doi: 10.1002/ajmg.a.30360. Am J Med Genet A. 2005. PMID: 16086393

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