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Items: 14

1.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L.

Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23.

2.

Intravitreal drug dispersion and needle gauge.

Montero JA, Merino-Iglesias AA, Pérez-Martín S, Ruiz-Moreno JM.

Acta Ophthalmol. 2013 Dec;91(8):e646-7. doi: 10.1111/aos.12197. Epub 2013 Jul 26. No abstract available.

3.

Reply: To PMID 23099497.

Montero JA, Ruiz-Moreno JM, Sanchis-Merino ME, Perez-Martin S.

Retina. 2013 Nov-Dec;33(10):2185-6. doi: 10.1097/IAE.0b013e31829f7334. No abstract available.

PMID:
23873167
4.

DOT2: Macromolecular docking with improved biophysical models.

Roberts VA, Thompson EE, Pique ME, Perez MS, Ten Eyck LF.

J Comput Chem. 2013 Jul 30;34(20):1743-58. doi: 10.1002/jcc.23304. Epub 2013 May 21.

5.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.

J Pediatr. 2013 Sep;163(3):742-6. doi: 10.1016/j.jpeds.2013.02.032. Epub 2013 Mar 25.

PMID:
23535010
6.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His.

J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1.

PMID:
23378603
7.

Systemic beta-blockers may reduce the need for repeated intravitreal injections in patients with wet age-related macular degeneration treated by bevacizumab.

Montero JA, Ruiz-Moreno JM, Sanchis-Merino E, Perez-Martin S.

Retina. 2013 Mar;33(3):508-12. doi: 10.1097/IAE.0b013e3182695ba0.

PMID:
23099497
8.

Infectious encephalitis in france in 2007: a national prospective study.

Mailles A, Stahl JP; Steering Committee and Investigators Group.

Clin Infect Dis. 2009 Dec 15;49(12):1838-47. doi: 10.1086/648419.

PMID:
19929384
9.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.

Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H, Girodon E.

J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29.

PMID:
19880712
10.

[Bone health in cystic fibrosis].

Sermet-Gaudelus I, Castanet M, Souberbielle JC, Mallet E; Le Groupe de Travail sur Minéralisation Osseuse et Mucoviscidose de la Fédération Française des Centres de Ressource et de Compétence en Mucoviscidose.

Arch Pediatr. 2009 Jun;16(6):616-8. doi: 10.1016/S0929-693X(09)74088-6. French. No abstract available.

PMID:
19541106
11.

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L.

Eur J Med Genet. 2009 Jan-Feb;52(1):23-6. doi: 10.1016/j.ejmg.2008.10.003. Epub 2008 Nov 5.

PMID:
19026771
12.

[Recommendations for the management of bone demineralization in cystic fibrosis].

Sermet-Gaudelus I, Nove-Josserand R, Loeille GA, Dacremont G, Souberbielle JC, Fritsch J, Laurans M, Moulin P, Cortet B, Salles JP, Ginies JL, Guillot M, Perez-Martin S, Ruiz JC, Montagne V, Cohen-Solal M, Cormier C, Garabédian M, Mallet E; Fédération française des centres de ressource et de compétence en mucoviscidose.

Arch Pediatr. 2008 Mar;15(3):301-12. doi: 10.1016/j.arcped.2007.12.003. Epub 2008 Mar 5. French.

PMID:
18325750
13.

VEB-1 in Achromobacter xylosoxidans from cystic fibrosis patient, France.

Neuwirth C, Freby C, Ogier-Desserrey A, Perez-Martin S, Houzel A, Péchinot A, Duez JM, Huet F, Siebor E.

Emerg Infect Dis. 2006 Nov;12(11):1737-9. No abstract available.

14.

[International adoption and cultural background].

De Monléon JV, Crémillieux C, Perez-Martin S, Huet F.

Arch Pediatr. 2005 Jun;12(6):721-2. French. No abstract available.

PMID:
15904783

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