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1.

Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study.

Kenborg, Line; Boschini, Cristina; Bidstrup, Pernille E; Dalton, Susanne O; Doser, Karoline; Nielsen, Thomas T; Krøyer, Anja; Johansen, Christoffer; Frederiksen, Kirsten; Sørensen, Sven Asger; Hove, Hanne; Østergaard, John R; Mulvihill, John J; Winther, Jeanette F.

J Med Genet; 59(3): 237-242, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-33495305

2.

Isolated CHDs and neurodevelopmental follow-up using the Bayley Scales of Infant and Toddler Development and the Ages and Stages Questionnaire at 18 and 36 months.

Baunsgaard, Mette Marie; Henriksen, Tine B; Gilberg, Charlotte K; Wibroe, Dorthe B; Haugsted, Trine; Østergaard, John R; Hjortdal, Vibeke E; Lauridsen, Mette H.

Cardiol Young; 32(3): 390-397, 2022 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-34112277

3.

Congenital Heart Defects and the Risk of Spontaneous Preterm Birth.

Matthiesen, Niels B; Østergaard, John R; Hjortdal, Vibeke E; Henriksen, Tine B.

J Pediatr; 229: 168-174.e5, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-32980375

4.

Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study.

Kenborg, Line; Andersen, Elisabeth W; Duun-Henriksen, Anne Katrine; Jepsen, Jens R M; Doser, Karoline; Dalton, Susanne O; Bidstrup, Pernille E; Krøyer, Anja; Frederiksen, Line E; Johansen, Christoffer; Østergaard, John R; Hove, Hanne; Sørensen, Sven Asger; Riccardi, Vincent M; Mulvihill, John J; Winther, Jeanette F.

Am J Med Genet A; 185(12): 3706-3716, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34327813

5.

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.

Kenborg, Line; Duun-Henriksen, Anne Katrine; Dalton, Susanne O; Bidstrup, Pernille E; Doser, Karoline; Rugbjerg, Kathrine; Pedersen, Camilla; Krøyer, Anja; Johansen, Christoffer; Andersen, Klaus Kaae; Østergaard, John R; Hove, Hanne; Sørensen, Sven Asger; Riccardi, Vincent M; Mulvihill, John J; Winther, Jeanette F.

Genet Med; 22(6): 1069-1078, 2020 06.

Artículo en Inglés | MEDLINE | ID: mdl-32107470

6.

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Regalado, Ellen S; Mellor-Crummey, Lauren; De Backer, Julie; Braverman, Alan C; Ades, Lesley; Benedict, Susan; Bradley, Timothy J; Brickner, M Elizabeth; Chatfield, Kathryn C; Child, Anne; Feist, Cori; Holmes, Kathryn W; Iannucci, Glen; Lorenz, Birgit; Mark, Paul; Morisaki, Takayuki; Morisaki, Hiroko; Morris, Shaine A; Mitchell, Anna L; Ostergaard, John R; Richer, Julie; Sallee, Denver; Shalhub, Sherene; Tekin, Mustafa; Estrera, Anthony; Musolino, Patricia; Yetman, Anji; Pyeritz, Reed; Milewicz, Dianna M.

Genet Med; 20(10): 1206-1215, 2018 10.

Artículo en Inglés | MEDLINE | ID: mdl-29300374

7.

Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1.

Ejerskov, Cecilie; Krogh, Klaus; Ostergaard, John R; Joensson, Iben; Haagerup, Annette.

J Pediatr Gastroenterol Nutr; 66(6): 872-875, 2018 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-29240009

8.

Congenital Heart Defects and Indices of Fetal Cerebral Growth in a Nationwide Cohort of 924 422 Liveborn Infants.

Matthiesen, Niels B; Henriksen, Tine B; Gaynor, J William; Agergaard, Peter; Bach, Cathrine C; Hjortdal, Vibeke E; Østergaard, John R.

Circulation; 133(6): 566-75, 2016 Feb 09.

Artículo en Inglés | MEDLINE | ID: mdl-26769743

9.

Congenital Heart Defects and Indices of Placental and Fetal Growth in a Nationwide Study of 924 422 Liveborn Infants.

Matthiesen, Niels B; Henriksen, Tine B; Agergaard, Peter; Gaynor, J William; Bach, Cathrine C; Hjortdal, Vibeke E; Østergaard, John R.

Circulation; 134(20): 1546-1556, 2016 Nov 15.

Artículo en Inglés | MEDLINE | ID: mdl-27742737

10.

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

Møller, Lisbeth Birk; Schönewolf-Greulich, Bitten; Rosengren, Thomas; Larsen, Lasse Jonsgaard; Ostergaard, John R; Sommerlund, Mette; Ostenfeldt, Caroline; Stausbøl-Grøn, Brian; Linnet, Karen Markussen; Gregersen, Pernille Axél; Jensen, Uffe Birk.

Mol Genet Metab; 120(4): 384-391, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-28336152

11.

Nance-Horan syndrome-The oral perspective on a rare disease.

Gjørup, Hans; Haubek, Dorte; Jacobsen, Pernille; Ostergaard, John R.

Am J Med Genet A; 173(1): 88-98, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27616609

12.

Letter.

Ostergaard, John R.

Neuroradiology; 64(10): 1909-1910, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35869991

13.

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

Groth, Kristian A; Gaustadnes, Mette; Thorsen, Kasper; Østergaard, John R; Jensen, Uffe Birk; Gravholt, Claus H; Andersen, Niels H.

Genet Med; 18(1): 98-102, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25812041

14.

Reply.

Matthiesen, Niels B; Østergaard, John R; Hjortdal, Vibeke E; Henriksen, Tine B.

J Pediatr; 230: 273-274, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33253735

15.

Congenital Heart Defects and Measures of Fetal Growth in Newborns with Down Syndrome or 22q11.2 Deletion Syndrome.

Matthiesen, Niels B; Agergaard, Peter; Henriksen, Tine B; Bach, Cathrine C; Gaynor, J William; Hjortdal, Vibeke; Østergaard, John R.

J Pediatr; 175: 116-122.e4, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27245297

16.

Cantú syndrome is caused by mutations in ABCC9.

van Bon, Bregje W M; Gilissen, Christian; Grange, Dorothy K; Hennekam, Raoul C M; Kayserili, Hülya; Engels, Hartmut; Reutter, Heiko; Ostergaard, John R; Morava, Eva; Tsiakas, Konstantinos; Isidor, Bertrand; Le Merrer, Martine; Eser, Metin; Wieskamp, Nienke; de Vries, Petra; Steehouwer, Marloes; Veltman, Joris A; Robertson, Stephen P; Brunner, Han G; de Vries, Bert B A; Hoischen, Alexander.

Am J Hum Genet; 90(6): 1094-101, 2012 Jun 08.

Artículo en Inglés | MEDLINE | ID: mdl-22608503

17.

Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

Ostergaard, John R.

Am J Med Genet A; 167A(9): 2138-44, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-25832033

18.

Diagnostic practice of psychogenic nonepileptic seizures (PNES) in the pediatric setting.

Wichaidit, Bianca T; Østergaard, John R; Rask, Charlotte U.

Epilepsia; 56(1): 58-65, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25495882

19.

Impact of child and family characteristics on cerebral palsy treatment.

Rackauskaite, Gija; Uldall, Peter W; Bech, Bodil H; Østergaard, John R.

Dev Med Child Neurol; 57(10): 948-54, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-25952577

20.

Teenagers and young adults with neurofibromatosis type 1 are more likely to experience loneliness than siblings without the illness.

Ejerskov, Cecilie; Lasgaard, Mathias; Østergaard, John R.

Acta Paediatr; 104(6): 604-9, 2015 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-25625197

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