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Page 1
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Among authors: bindels de heus kgcb. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
Bindels-de Heus KGCB, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Encore Expertise Center For As, Elgersma Y, de Wit MY, Mous SE, Moll HA. Bindels-de Heus KGCB, et al. J Clin Med. 2023 Sep 15;12(18):5981. doi: 10.3390/jcm12185981. J Clin Med. 2023. PMID: 37762921 Free PMC article.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Eur J Pediatr. 2024 Jan;183(1):103-111. doi: 10.1007/s00431-023-05231-6. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831301 Free PMC article.
Outcome measures in Angelman syndrome.
Hagenaar DA, Bindels-de Heus KGCB, van Gils MM, van den Berg L, Ten Hoopen LW, Affourtit P, Pel JJM, Joosten KFM, Hillegers MHJ, Moll HA, de Wit MY, Dieleman GC, Mous SE. Hagenaar DA, et al. Among authors: bindels de heus kgcb. J Neurodev Disord. 2024 Mar 1;16(1):6. doi: 10.1186/s11689-024-09516-1. J Neurodev Disord. 2024. PMID: 38429713 Free PMC article.
Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.
Lubbers K, Hiralal KR, Dieleman GC, Hagenaar DA, Dierckx B, Legerstee JS, de Nijs PFA, Rietman AB, Oostenbrink R, Bindels-de Heus KGCB, de Wit MY, Hillegers MHJ, Ten Hoopen LW, Mous SE. Lubbers K, et al. Among authors: bindels de heus kgcb. J Autism Dev Disord. 2024 Oct 12. doi: 10.1007/s10803-024-06557-2. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39395123
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD. Amato ME, et al. Among authors: bindels de heus kgcb. Eur J Paediatr Neurol. 2024 Nov;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Epub 2024 Oct 9. Eur J Paediatr Neurol. 2024. PMID: 39413657
Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.
Hagenaar DA, Mous SE, Ten Hoopen LW, Rietman AB, Hiralal KR, Bindels-de Heus KGCB, de Nijs PFA, Mohr TC, Lens EJ, Hillegers MHJ, Moll HA, de Wit MY, Dieleman GC. Hagenaar DA, et al. Among authors: bindels de heus kgcb. Autism Res. 2025 Apr;18(4):870-880. doi: 10.1002/aur.70017. Epub 2025 Mar 21. Autism Res. 2025. PMID: 40116126 Free PMC article.
25 results