Búsqueda | Biblioteca Virtual en Salud

1.

Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).

Goyal, S; Jäger, M; Robinson, P N; Vanita, V.

Clin Genet ; 89(4): 454-460, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26195043

2.

The Tulip GT® airway versus the facemask and Guedel airway: a randomised, controlled, cross-over study by Basic Life Support-trained airway providers in anaesthetised patients.

Shaikh, A; Robinson, P N; Hasan, M.

Anaesthesia ; 71(3): 315-9, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26684684

3.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech, E M; Zemojtel, T; Sowinska-Seidler, A; Mundlos, S; Robinson, P N; Karczewski, M; Jamsheer, A.

Pol J Pathol ; 67(1): 78-83, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-27179278

4.

[Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome]. / Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms.

von Kodolitsch, Y; Blankart, C R; Vogler, M; Kallenbach, K; Robinson, P N.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz ; 58(2): 146-53, 2015 Feb.

Artículo en Alemán | MEDLINE | ID: mdl-25446311

5.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.

Sheikhzadeh, S; Sondermann, C; Rybczynski, M; Habermann, C R; Brockstaedt, L; Keyser, B; Kaemmerer, H; Mir, T; Staebler, A; Robinson, P N; Kutsche, K; Berger, J; Blankenberg, S; von Kodolitsch, Y.

Clin Genet ; 86(3): 238-45, 2014 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23991918

6.

A pilot study to examine the effect of the Tulip oropharyngeal airway on ventilation immediately after mask ventilation following the induction of anaesthesia.

Robinson, P N; Shaikh, A; Sabir, N M; Vaughan, D J A; Kynoch, M; Hasan, M.

Anaesthesia ; 69(7): 707-11, 2014 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-24773326

7.

TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.

Dziubianau, M; Hecht, J; Kuchenbecker, L; Sattler, A; Stervbo, U; Rödelsperger, C; Nickel, P; Neumann, A U; Robinson, P N; Mundlos, S; Volk, H-D; Thiel, A; Reinke, P; Babel, N.

Am J Transplant ; 13(11): 2842-54, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-24020931

8.

The carbon footprint of surgical operations: a systematic review update.

Robinson, P N; Surendran, Ksb; Lim, S J; Robinson, M.

Ann R Coll Surg Engl ; 105(8): 692-708, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37906978

9.

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.

Sheikhzadeh, S; Kade, C; Keyser, B; Stuhrmann, M; Arslan-Kirchner, M; Rybczynski, M; Bernhardt, A M; Habermann, C R; Hillebrand, M; Mir, T; Robinson, P N; Berger, J; Detter, C; Blankenberg, S; Schmidtke, J; von Kodolitsch, Y.

Clin Genet ; 82(3): 240-7, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-21883168

10.

The new Ghent criteria for Marfan syndrome: what do they change?

Faivre, L; Collod-Beroud, G; Adès, L; Arbustini, E; Child, A; Callewaert, B L; Loeys, B; Binquet, C; Gautier, E; Mayer, K; Arslan-Kirchner, M; Grasso, M; Beroud, C; Hamroun, D; Bonithon-Kopp, C; Plauchu, H; Robinson, P N; De Backer, J; Coucke, P; Francke, U; Bouchot, O; Wolf, J E; Stheneur, C; Hanna, N; Detaint, D; De Paepe, A; Boileau, C; Jondeau, G.

Clin Genet ; 81(5): 433-42, 2012 May.

Artículo en Inglés | MEDLINE | ID: mdl-21564093

11.

What mothers know, and want to know, about the complications of general anaesthesia.

Jackson, G N B; Robinson, P N; Lucas, D N; Natarajan, A; Gough, K; Woolnough, M; Yentis, S M.

Acta Anaesthesiol Scand ; 56(5): 585-8, 2012 May.

Artículo en Inglés | MEDLINE | ID: mdl-22260733

12.

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

Sheikhzadeh, S; Rybczynski, M; Habermann, C R; Bernhardt, A M J; Arslan-Kirchner, M; Keyser, B; Kaemmerer, H; Mir, T S; Staebler, A; Oezdal, N; Robinson, P N; Berger, J; Meinertz, T; von Kodolitsch, Y.

Clin Genet ; 79(6): 568-74, 2011 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20662850

13.

The human phenotype ontology.

Robinson, P N; Mundlos, S.

Clin Genet ; 77(6): 525-34, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20412080

14.

Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

von Kodolitsch, Y; Rybczynski, M; Bernhardt, A; Mir, T S; Treede, H; Dodge-Khatami, A; Robinson, P N; Sheikhzadeh, S; Reichenspurner, H; Meinertz, T.

Vasa ; 39(1): 17-32, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-20186673

15.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Faivre, L; Collod-Beroud, G; Callewaert, B; Child, A; Loeys, B L; Binquet, C; Gautier, E; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Kiotsekoglou, A; Comeglio, P; Grasso, M; Beroud, C; Bonithon-Kopp, C; Claustres, M; Stheneur, C; Bouchot, O; Wolf, J E; Robinson, P N; Adès, L; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Boileau, C; Jondeau, G.

Am J Med Genet A ; 149A(5): 854-60, 2009 May.

Artículo en Inglés | MEDLINE | ID: mdl-19353630

16.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Faivre, L; Collod-Beroud, G; Child, A; Callewaert, B; Loeys, B L; Binquet, C; Gautier, E; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Stheneur, C; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Halliday, D; Beroud, C; Bonithon-Kopp, C; Claustres, M; Plauchu, H; Robinson, P N; Adès, L; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Boileau, C; Jondeau, G.

J Med Genet ; 45(6): 384-90, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-18310266

17.

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.

Hecht, J; Seitz, V; Urban, M; Wagner, F; Robinson, P N; Stiege, A; Dieterich, C; Kornak, U; Wilkening, U; Brieske, N; Zwingman, C; Kidess, A; Stricker, S; Mundlos, S.

Gene Expr Patterns ; 7(1-2): 102-12, 2007 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16829211

18.

The molecular genetics of Marfan syndrome and related disorders.

Robinson, P N; Arteaga-Solis, E; Baldock, C; Collod-Béroud, G; Booms, P; De Paepe, A; Dietz, H C; Guo, G; Handford, P A; Judge, D P; Kielty, C M; Loeys, B; Milewicz, D M; Ney, A; Ramirez, F; Reinhardt, D P; Tiedemann, K; Whiteman, P; Godfrey, M.

J Med Genet ; 43(10): 769-87, 2006 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-16571647

19.

An ADEPT apology.

Shaikh, A; Robinson, P N.

Anaesthesia ; 67(4): 432-3; author reply 433-4, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22409802

20.

[Ocular manifestations and surgical results in patients with Marfan syndrome]. / Okuläre Manifestationen und chirurgische Ergebnisse beim Marfan-Syndrom.

Ladewig, M S; Robinson, P N; Neumann, L M; Holz, F G; Foerster, M H.

Ophthalmologe ; 103(9): 777-82, 2006 Sep.

Artículo en Alemán | MEDLINE | ID: mdl-16819661

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