Serum hepcidin concentrations in relation to iron status in children with type 1 diabetes.

Autor: Vreugdenhil M; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands., Akkermans MD; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands., van Swelm RPL; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML 830), Hepcidinanalysis.com, Radboud University Medical Center, Nijmegen, The Netherlands., Laarakkers CM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML 830), Hepcidinanalysis.com, Radboud University Medical Center, Nijmegen, The Netherlands., Houdijk ECAM; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands., Bakker B; Department of Pediatrics, Reinier de Graaf Hospital, Delft, The Netherlands., Clement-de Boers A; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands., van der Kaay DCM; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands., de Vries MC; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Woltering MC; Department of Pediatrics, Reinier de Graaf Hospital, Delft, The Netherlands., Mul D; Diabeter, Center for Pediatric and Adolescent Diabetes Care and Research, Rotterdam, The Netherlands., van Goudoever JB; Department of Pediatrics, Amsterdam University Medical Center, University of Amsterdam, Vrije Universiteit, Emma Children's Hospital, Amsterdam, The Netherlands., Brus F; Department of Pediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, The Netherlands.

Publikováno v: Pediatric hematology and oncology [Pediatr Hematol Oncol] 2021 Mar; Vol. 38 (2), pp. 108-123. Date of Electronic Publication: 2020 Oct 07.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Autor: Mackay, Deborah J. G.¹ (AUTHOR) djgm@soton.ac.uk, Gazdagh, Gabriella^1,2 (AUTHOR), Monk, David³ (AUTHOR), Brioude, Frederic⁴ (AUTHOR), Giabicani, Eloise⁴ (AUTHOR), Krzyzewska, Izabela M.⁵ (AUTHOR), Kalish, Jennifer M.^6,7 (AUTHOR), Maas, Saskia M.⁵ (AUTHOR), Kagami, Masayo⁸ (AUTHOR), Beygo, Jasmin⁹ (AUTHOR), Kahre, Tiina^10,11 (AUTHOR), Tenorio-Castano, Jair^12,13 (AUTHOR), Ambrozaitytė, Laima¹⁴ (AUTHOR), Burnytė, Birutė¹⁴ (AUTHOR), Cerrato, Flavia¹⁵ (AUTHOR), Davies, Justin H.^1,16 (AUTHOR), Ferrero, Giovanni Battista¹⁷ (AUTHOR), Fjodorova, Olga¹⁰ (AUTHOR), Manero-Azua, Africa¹⁸ (AUTHOR), Pereda, Arrate¹⁸ (AUTHOR)

Publikováno v: Clinical Epigenetics. 8/1/2024, Vol. 16 Issue 1, p1-19. 19p.

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

Autor: Bakker B; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Sonneveld LJ; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Woltering MC; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Bikker H; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Kant SG; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Nov; Vol. 100 (11), pp. 3963-6. Date of Electronic Publication: 2015 Sep 14.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Autor: Pignata, Laura¹ (AUTHOR), Cecere, Francesco^1,2 (AUTHOR), Verma, Ankit² (AUTHOR), Hay Mele, Bruno³ (AUTHOR), Monticelli, Maria³ (AUTHOR), Acurzio, Basilia² (AUTHOR), Giaccari, Carlo² (AUTHOR), Sparago, Angela¹ (AUTHOR), Hernandez Mora, Jose Ramon⁴ (AUTHOR), Monteagudo-Sánchez, Ana⁴ (AUTHOR), Esteller, Manel^5,6,7,8 (AUTHOR), Pereda, Arrate⁹ (AUTHOR), Tenorio-Castano, Jair^10,11,12 (AUTHOR), Palumbo, Orazio¹³ (AUTHOR), Carella, Massimo¹³ (AUTHOR), Prontera, Paolo¹⁴ (AUTHOR), Piscopo, Carmelo¹⁵ (AUTHOR), Accadia, Maria¹⁶ (AUTHOR), Lapunzina, Pablo^10,11,12 (AUTHOR), Cubellis, Maria Vittoria³ (AUTHOR)

Publikováno v: Clinical Epigenetics. 5/28/2022, Vol. 14, p1-15. 15p.

Childhood obesity: an overview of laboratory medicine, exercise and microbiome.

Autor: Scudiero, Olga, Pero, Raffaela, Ranieri, Annaluisa, Terracciano, Daniela, Fimiani, Fabio, Cesaro, Arturo, Gentile, Luca, Leggiero, Eleonora, Laneri, Sonia, Moscarella, Elisabetta, Mazzaccara, Cristina, Frisso, Giulia, D'Alicandro, Giovanni, Limongelli, Giuseppe, Pastore, Lucio, Calabrò, Paolo, Lombardo, Barbara

Publikováno v: Clinical Chemistry & Laboratory Medicine; Sep2020, Vol. 58 Issue 9, p1385-1406, 22p