Failure to thrive: van symptoom naar diagnose

Autor: van den Elzen, APM, Sibbles, Barbara, Nieuwenhuis, EES

Publikováno v: Praktische Pediatrie, 1, 48-52

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::f89df08d57b47d2be817a317c66bdc50
https://pure.eur.nl/en/publications/3eba80cd-b49c-4da6-b17f-e3878b4a8da3

Childhood determinants of vascular damage and body mass index in young adulthood

Autor: van den Elzen, APM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::3b8a100a1dfd324a6997ead48bfca168
https://pure.eur.nl/en/publications/e49b62e4-009f-41d4-9729-8d21d5b6b37d

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Young adolescent with trisomy 13.

Autor: Kramer BCE; Pediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands., Abdullahi NS; Pediatrics, Erasmus MC, Sophia Childrens Hospital, Rotterdam, The Netherlands., Ten Have LC; Pediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands., van den Elzen APM; Pediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands a.vandenelzen@rdgg.nl.

Publikováno v: BMJ case reports [BMJ Case Rep] 2022 Sep 23; Vol. 15 (9). Date of Electronic Publication: 2022 Sep 23.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Autor: Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy., Van Dijck A; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium; Department of Neurology, Antwerp University Hospital, Edegem, 2650 Belgium., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, Rome, 00161 Italy., Coluzzi E; Department of Science, University Roma Tre, Rome, 00146 Italy., Pannone L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Andreoli C; Department of Environment and Health, Istituto Superiore di Sanità, Rome, 00161 Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Carpentieri G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy., Catanzaro G; Department of Experimental Medicine, Sapienza University, Rome, 00161 Italy., Pedace L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Carcarino E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy; Current affiliation: Cordeliers Research Centre, Inserm 1138, Sorbonne Université, Paris, 75006 France., Ge X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Current affiliation: Department of Genetics and Genomic Sciences, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada., Lewis MES; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada., Meuwissen M; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium., Kenis S; Department of Neurology, Antwerp University Hospital, Edegem, 2650 Belgium., Van der Aa N; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium., Larson A; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA., Brown K; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA., Wasserstein MP; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA., Skotko BG; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02114, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Karayiorgou M; Department of Psychiatry, Columbia University Medical Center, New York, NY 10032, USA., Roos JL; Department of Psychiatry, University of Pretoria, Weskoppies Hospital, Pretoria, 0001 South Africa., Van Gassen KL; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3508 AB the Netherlands., Koopmans M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3508 AB the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., van den Elzen APM; Departement of Pediatrics, Reinier de Graaf Ziekenhuis, Delft, 2600 GA the Netherlands., Kamphuis DJ; Departement of Neurology, Reinier de Graaf Ziekenhuis, Delft, 2600 GA the Netherlands., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Viberti C; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Di Gaetano C; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Petrucci S; Department of Clinical and Molecular Medicine, Sapienza University, Rome, 00189 Italy; Division of Medical Genetics, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, 71013 Italy., De Luca A; Division of Medical Genetics, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, 71013 Italy., Rota R; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Ferretti E; Department of Experimental Medicine, Sapienza University, Rome, 00161 Italy; Istituto Neuromed, IRCCS, Pozzilli, 86077 Italy., Matullo G; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Sgura A; Department of Science, University Roma Tre, Rome, 00146 Italy., Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Current affiliation: National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD 20892, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium. Electronic address: frank.kooy@uantwerpen.be., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address: marco.tartaglia@opbg.net.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 493-508. Date of Electronic Publication: 2019 Aug 22.