Works matching AU Nikkels, Peter G. J.


Results: 62
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    Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

    Published in:
    Genes, 2022, v. 13, n. 2, p. 261, doi. 10.3390/genes13020261
    By:
    • Rosato, Simonetta;
    • Unger, Sheila;
    • Campos-Xavier, Belinda;
    • Caraffi, Stefano Giuseppe;
    • Beltrami, Laura;
    • Pollazzon, Marzia;
    • Ivanovski, Ivan;
    • Castori, Marco;
    • Bonasoni, Maria Paola;
    • Comitini, Giuseppina;
    • Nikkels, Peter G. J.;
    • Lindstrom, Kristin;
    • Umandap, Christine;
    • Superti-Furga, Andrea;
    • Garavelli, Livia
    Publication type:
    Article
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    5q11.2 deletion in a patient with tracheal agenesis.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1265, doi. 10.1038/ejhg.2010.84
    By:
    • de Jong, Elisabeth M.;
    • Douben, Hannie;
    • Eussen, Bert H.;
    • Felix, Janine F.;
    • Wessels, Marja W.;
    • Poddighe, Pino J.;
    • Nikkels, Peter G. J.;
    • de Krijger, Ronald R.;
    • Tibboel, Dick;
    • de Klein, Annelies
    Publication type:
    Article
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    CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
    By:
    • Van Dijk, Fleur S.;
    • Nesbitt, Isabel M.;
    • Nikkels, Peter G. J.;
    • Dalton, Ann;
    • Bongers, Ernie M. H. F.;
    • van de Kamp, Jiddeke M.;
    • Hilhorst-Hofstee, Yvonne;
    • Den Hollander, Nicolette S.;
    • Lachmeijer, Augusta M. A.;
    • Marcelis, Carlo L.;
    • Tan-Sindhunata, Gita M. B.;
    • van Rijn, Rick R.;
    • Meijers-Heijboer, Hanne;
    • Cobben, Jan M.;
    • Pals, Gerard
    Publication type:
    Article
    5

    Sampling and Definitions of Placental Lesions.

    Published in:
    Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 7, p. 698, doi. 10.5858/arpa.2015-0225-CC
    By:
    • Khong, T. Yee;
    • Mooney, Eoghan E.;
    • Ariel, Ilana;
    • Balmus, Nathalie C. M.;
    • Boyd, Theonia K.;
    • Brundler, Marie-Anne;
    • Derricott, Hayley;
    • Evans, Margaret J.;
    • Faye-Petersen, Ona M.;
    • Gillan, John E.;
    • Heazell, Alex E. P.;
    • Heller, Debra S.;
    • Jacques, Suzanne M.;
    • Keating, Sarah;
    • Kelehan, Peter;
    • Maes, Ann;
    • McKay, Eileen M.;
    • Morgan, Terry K.;
    • Nikkels, Peter G. J.;
    • Parks, W. Tony
    Publication type:
    Article
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    Pontocerebellar hypoplasia type 2: a neuropathological update.

    Published in:
    Acta Neuropathologica, 2007, v. 114, n. 4, p. 373, doi. 10.1007/s00401-007-0263-0
    By:
    • Barth, Peter G.;
    • Aronica, Eleonora;
    • de Vries, Linda;
    • Nikkels, Peter G. J.;
    • Scheper, Wiep;
    • Hoozemans, Jeroen J.;
    • Poll-The, Bwe - Tien;
    • Troost, Dirk
    Publication type:
    Article
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    Uneven Distribution of Purkinje Cell Injury in the Cerebellar Vermis of Term Neonates with Hypoxic-Ischemic Encephalopathy.

    Published in:
    Cerebellum, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s12311-024-01765-z
    By:
    • Annink, Kim V.;
    • van Leeuwen, Ilona C. E.;
    • Smeets, Nina A.;
    • Peeters, Lianne A. J.;
    • van der Aa, Niek E.;
    • Alderliesten, Thomas;
    • Groenendaal, Floris;
    • Jellema, Reint K.;
    • Nijboer, Cora H. A.;
    • Nikkels, Peter G. J.;
    • Lammens, Martin;
    • Benders, Manon J. N. L.;
    • Hoebeek, Freek E.;
    • Dudink, Jeroen
    Publication type:
    Article
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    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427
    By:
    • Valencia, María;
    • Caparrós‐Martin, Jose A.;
    • Sirerol‐Piquer, María Salomé;
    • García‐Verdugo, José Manuel;
    • Martínez‐Glez, Víctor;
    • Lapunzina, Pablo;
    • Temtamy, Samia;
    • Aglan, Mona;
    • Lund, Allan M.;
    • Nikkels, Peter G. J.;
    • Ruiz‐Perez, Victor L.;
    • Ostergaard, Elsebet
    Publication type:
    Article
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    Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1827
    By:
    • Tjon, Jill K.;
    • Lakeman, Phillis;
    • van Leeuwen, Elisabeth;
    • Waisfisz, Quinten;
    • Weiss, Marjan M.;
    • Tan‐Sindhunata, Gita M. B.;
    • Nikkels, Peter G. J.;
    • van der Voorn, Patrick J. P.;
    • Salomons, Gajja S.;
    • Burchell, George L.;
    • Linskens, Ingeborg H.;
    • van der Knoop, Bloeme J.;
    • de Vries, Johanna I. P.
    Publication type:
    Article
    34

    Placental Pathology Contributes to Impaired Volumetric Brain Development in Neonates With Congenital Heart Disease.

    Published in:
    Journal of the American Heart Association, 2024, v. 13, n. 5, p. 1, doi. 10.1161/JAHA.123.033189
    By:
    • Nijman, Maaike;
    • van der Meeren, Lotte E.;
    • Nikkels, Peter G. J.;
    • Stegeman, Raymond;
    • Breur, Johannes M. P. J.;
    • Jansen, Nicolaas J. G.;
    • ter Heide, Henriette;
    • Steenhuis, Trinette J.;
    • de Heus, Roel;
    • Bekker, Mireille N.;
    • Claessens, Nathalie H. P.;
    • Benders, Manon J. N. L.
    Publication type:
    Article
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    Celiac disease is overrepresented in patients with constipation.

    Published in:
    Jornal de Pediatria, 2012, v. 88, n. 2, p. 173, doi. 10.2223/JPED.2155
    By:
    • Pelleboer, Rolf A. A.;
    • Janssen, Rob L. H.;
    • Deckers-Kocken, Judith M.;
    • Wouters, Edward;
    • Nissen, Annemieke C.;
    • Bolz, Werner E. A.;
    • Tjon A. Ten, Walther E.;
    • Van der Feen, Cathelijne;
    • Oosterhuis, Koen J.;
    • Rövekamp, Mechelien H.;
    • Nikkels, Peter G. J.;
    • Houwen, Roderick H. J.
    Publication type:
    Article
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    Helicobacter heilmannii Gastritis Caused by Cat to Child Transmission.

    Published in:
    Journal of Pediatric Gastroenterology & Nutrition, 2003, v. 36, n. 3, p. 407, doi. 10.1097/00005176-200303000-00021
    By:
    • Sandra van Loon;
    • Aldert Bart;
    • Erik J. den Hertog;
    • Peter G. J. Nikkels;
    • Roderick H. J. Houwen;
    • Jan E. A. R. De Schryver;
    • Johanna H. Oudshoorn
    Publication type:
    Article
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    Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

    Published in:
    Nucleic Acids Research, 2020, v. 48, n. 2, p. 770, doi. 10.1093/nar/gkz1042
    By:
    • Lezzerini, Marco;
    • Penzo, Marianna;
    • O'Donohue, Marie-Françoise;
    • Marques dos Santos Vieira, Carolina;
    • Saby, Manon;
    • Elfrink, Hyung L;
    • Diets, Illja J;
    • Hesse, Anne-Marie;
    • Couté, Yohann;
    • Gastou, Marc;
    • Nin-Velez, Alexandra;
    • Nikkels, Peter G J;
    • Olson, Alexandra N;
    • Zonneveld-Huijssoon, Evelien;
    • Jongmans, Marjolijn C J;
    • Zhang, GuangJun;
    • van Weeghel, Michel;
    • Houtkooper, Riekelt H;
    • Wlodarski, Marcin W;
    • Kuiper, Roland P
    Publication type:
    Article
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    Substandard care in delivery-related asphyxia among term infants: prospective cohort study.

    Published in:
    Acta Obstetricia et Gynecologica Scandinavica, 2013, v. 92, n. 1, p. 85, doi. 10.1111/aogs.12012
    By:
    • EVERS, ANNEMIEKE C. C.;
    • BROUWERS, HENS A. A.;
    • NIKKELS, PETER G. J.;
    • BOON, JANINE;
    • VAN EGMOND‐LINDEN, ANNEKE;
    • GROENENDAAL, FLORIS;
    • HART, CLAARTJE;
    • HILLEGERSBERG, JACQUELINE;
    • SNUIF, YVETTE S.;
    • STERKEN‐HOOISMA, SIETSKE;
    • BISSCHOP, CHARLOTTE N. STEINS;
    • WESTERHUIS, MICHELLE E. M. H.;
    • BRUINSE, HEIN W.;
    • KWEE, ANNEKE
    Publication type:
    Article
    48

    Vascular Endothelial Growth Factor in Bacterial Meningitis: Detection in Cerebrospinal Fluid and Localization in Postmortem Brain.

    Published in:
    Journal of Infectious Diseases, 2001, v. 183, n. 1, p. 149
    By:
    • van der Flier, Michiel;
    • Stockhammer, Guenther;
    • Vonk, Gemma J. H.;
    • Nikkels, Peter G. J.;
    • van Diemen-Steenvoorde, Ronnie A. A. M.;
    • van der Vlist, Gert J.;
    • Rupert, Stijn W. M.;
    • Schmutzhard, Erich;
    • Gunsilius, Eberhard;
    • Gastl, Guenther;
    • Hoepelman, Andy I. M.;
    • Kimpen, Jan L. L.;
    • Geelen, Sibyl P. M.
    Publication type:
    Article
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