Fischbach M - Search Results

1

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H. Minn D, et al. Among authors: fischbach m. Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348. Am J Med Genet. 2002. PMID: 11977181 Review.

2

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H. Herenger Y, et al. Among authors: fischbach m. Eur J Med Genet. 2015 Sep;58(9):479-87. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15. Eur J Med Genet. 2015. PMID: 26188272

3

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M. Laugel V, et al. Among authors: fischbach m. Pediatr Neurol. 2007 Jan;36(1):54-7. doi: 10.1016/j.pediatrneurol.2006.08.007. Pediatr Neurol. 2007. PMID: 17162199

4

First model of spontaneous vagal hyperreactivity and its mode of genetic transmission.

Livolsi A, Feldman J, Feingold J, Weiss L, Alembik Y, Sharifah-Anion IM, Fischbach M, Messer J, Bousquet P. Livolsi A, et al. Among authors: fischbach m. Circulation. 2002 Oct 29;106(18):2301-4. doi: 10.1161/01.cir.0000039155.49920.1f. Circulation. 2002. PMID: 12403657

5

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.

Laugel V, Cossée M, Matis J, de Saint-Martin A, Echaniz-Laguna A, Mandel JL, Astruc D, Fischbach M, Messer J. Laugel V, et al. Among authors: fischbach m. Eur J Pediatr. 2008 May;167(5):517-23. doi: 10.1007/s00431-007-0539-3. Epub 2007 Jul 20. Eur J Pediatr. 2008. PMID: 17641914

6

A pediatric case of Fisher-Bickerstaff spectrum.

Tsapis M, Laugel V, Koob M, de Saint Martin A, Fischbach M. Tsapis M, et al. Among authors: fischbach m. Pediatr Neurol. 2010 Feb;42(2):147-50. doi: 10.1016/j.pediatrneurol.2009.09.009. Pediatr Neurol. 2010. PMID: 20117755

7

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.

Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H. Schaefer E, et al. Among authors: fischbach m. Mol Syndromol. 2011 Sep;1(6):273-281. doi: 10.1159/000331268. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190896 Free PMC article.

8

The onset of acute oxcarbazepine toxicity related to prescription of clarithromycin in a child with refractory epilepsy.

Santucci R, Fothergill H, Laugel V, Perville A, De Saint Martin A, Gerout AC, Fischbach M. Santucci R, et al. Among authors: fischbach m. Br J Clin Pharmacol. 2010 Mar;69(3):314-6. doi: 10.1111/j.1365-2125.2009.03593.x. Br J Clin Pharmacol. 2010. PMID: 20233205 Free PMC article. No abstract available.

9

Endoscopic Mic-Key button placement for continent vesicostomy.

Lacreuse I, Becmeur F, Dheu C, Moog R, Terzic J, Fischbach M. Lacreuse I, et al. Among authors: fischbach m. J Laparoendosc Adv Surg Tech A. 2010 Apr;20(3):297-9. doi: 10.1089/lap.2009.0191. J Laparoendosc Adv Surg Tech A. 2010. PMID: 19943778

10

Multiple intracranial tuberculomas associated with partial status epilepticus and refractory infantile spasms.

Zorn-Olexa C, Laugel V, Martin Ade S, Donato L, Fischbach M. Zorn-Olexa C, et al. Among authors: fischbach m. J Child Neurol. 2008 Apr;23(4):459-62. doi: 10.1177/0883073807309252. J Child Neurol. 2008. PMID: 18401037

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