Marlin S - Search Results

1

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. Portnoï MF, et al. Among authors: marlin s. Am J Med Genet A. 2005 Aug 15;137(1):47-51. doi: 10.1002/ajmg.a.30847. Am J Med Genet A. 2005. PMID: 16007629 Review.

2

Usher syndrome and cochlear implantation.

Loundon N, Marlin S, Busquet D, Denoyelle F, Roger G, Renaud F, Garabedian EN. Loundon N, et al. Among authors: marlin s. Otol Neurotol. 2003 Mar;24(2):216-21. doi: 10.1097/00129492-200303000-00015. Otol Neurotol. 2003. PMID: 12621335

3

Cochlear implantation in children with internal ear malformations.

Loundon N, Rouillon I, Munier N, Marlin S, Roger G, Garabedian EN. Loundon N, et al. Among authors: marlin s. Otol Neurotol. 2005 Jul;26(4):668-73. doi: 10.1097/01.mao.0000178126.58859.a9. Otol Neurotol. 2005. PMID: 16015165

4

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. Moore A, et al. Among authors: marlin s. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055928 Free PMC article.

5

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M. Portnoï MF, et al. Among authors: marlin s. Clin Dysmorphol. 2007 Oct;16(4):247-52. doi: 10.1097/MCD.0b013e328235a572. Clin Dysmorphol. 2007. PMID: 17786116

6

[Velopharyngeal insufficiency in children].

Rouillon I, Leboulanger N, Roger G, Marlin S, Garabédian EN. Rouillon I, et al. Among authors: marlin s. Ann Otolaryngol Chir Cervicofac. 2009 Jun;126(3):155-61. doi: 10.1016/j.aorl.2009.03.006. Epub 2009 May 20. Ann Otolaryngol Chir Cervicofac. 2009. PMID: 19467645 Review. French. No abstract available.

7

Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion.

Rouillon I, Leboulanger N, Roger G, Maulet M, Marlin S, Loundon N, Portnoï MF, Denoyelle F, Garabédian EN. Rouillon I, et al. Among authors: marlin s. Arch Otolaryngol Head Neck Surg. 2009 Jul;135(7):652-6. doi: 10.1001/archoto.2009.64. Arch Otolaryngol Head Neck Surg. 2009. PMID: 19620585

8

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F. Marlin S, et al. Am J Med Genet A. 2010 Jun;152A(6):1510-4. doi: 10.1002/ajmg.a.33242. Am J Med Genet A. 2010. PMID: 20503327

9

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF. Hyon C, et al. Among authors: marlin s. Eur J Med Genet. 2011 May-Jun;54(3):287-91. doi: 10.1016/j.ejmg.2010.12.006. Epub 2010 Dec 31. Eur J Med Genet. 2011. PMID: 21195811

10

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, Chantot-Bastaraud S, Metay C, Andrieux J, Annerén G, Gijsbers AC, Druart L, Hyon C, Portnoi MF, Stattin EL, Vincent-Delorme C, Kant SG, Steinraths M, Marlin S, Giurgea I, Thuresson AC. Wentzel C, et al. Among authors: marlin s. Eur J Hum Genet. 2011 Sep;19(9):959-64. doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522184 Free PMC article.

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