Publicaties

Dhaenens BAE, et.al. (2021). Identifying challenges in neurofibromatosis: a modified Delphi procedure. Eur J Hum Genet. 26:1–9 Pubmed

Onori MP & van Woerden GM. (2021) Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders. Brain Res Bull. S0361-9230(21)00090-3 Pubmed

Ragamin A, et.al. (2021) De novo TRPV4 Leu619Pro variant causes a new channelopathy characterized by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. J Med Genet. Pubmed

Bossuyt S, et.al. (2021) Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Hum Mol Genet. Pubmed

van Woerden GM, et.al. (2021) TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat. Pubmed

Elgersma Y & Sonzogni M. (2021) UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. Dev Med Child Neurol. Pubmed

Avagliano Trezza T, et.al. (2021) Mono-ubiquitination of Rhabphilin 3A by UBE3A serves a non-degradative function. Sci Rep. 11(1):3007. Pubmed

Müller AR, et al. (2021) The Power of 1: Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders. Neurology 10.1212/WNL.0000000000011597 Pubmed

Baer S. et.al. (2021) Growth charts in Cockayne syndrome type 1 and type 2. Eur J Med Genet. 64(1):104105 Pubmed

Proietti-Onori M, et.al. (2020) RHEB/mTOR-hyperactivity causing cortical malformations drives seizures through increased axonal connectivity bioRxiv 

Ribeiro-Silva C. et. al. (2020) Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair. Nat. Commun. 11:4868 Pubmed

Den Besten I, et.al. (2020) Clinical aspects of a large group of adults with Angelman syndrome. Am J Med Genet A. Pubmed

Sonzogni M, et.al. (2020) Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. Mol Autism. 11(1):70. Pubmed

Geerts-Haages A, et.al. (2020) A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Mol Genet Genomic Med. Pubmed

Zampeta IF, et.al. (2020) Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. Hum Mol Genet. Pubmed

Bindels-de Heus KGCB, et al. (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 182:53–63. Pubmed

Rotaru DC et.al. (2020) Angelman Syndrome: From Mouse Models to Therapy. Neuroscience. 4522:30103-2 . Pubmed

Moro A, et.al. (2020) CaMKll controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles. PLoS Biol. Pubmed

Bar C, et.al. (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. Pubmed

Oegema R, et.al. (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. Pubmed

Brock S, et.al. (2020) Defining the Phenotypical Spectrum Associated with Variants in TUBB2A. J Med Genet. Pubmed

Ragamin A, et al. (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am J Med Genet A. 1-9. Pubmed

Severino M, et.al. (2020) Definitions and classification of malformations of cortical development: practical guidelines. Brain. 143(10); 2874-94. Pubmed

Ottenhoff MJ, et.al. (2020) Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders. eNeuro. 7; 1-5. Pubmed

Fangusaro J, et.al. (2020) Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group. Lancet Oncol. 21(6); e305-16. Pubmed

Van Remmerden MC, et al. (2020) Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents. J Autism Dev Disord. Pubmed

Castricum J, et.al. (2020) Motor cortical excitability and plasticity in patients with neurofibromatosis type 1. Clin Neurophysiol. 131(11); 2673-81. Pubmed

Ottenhoff MJ, et al.(2020) Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genet Med.1-9. Pubmed

Heimer G, et al. (2020) Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. Hum Mutat 41, 476–86. Pubmed

Kumar R, et al. (2020) Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. Front Mol Neurosci. 13,1-15. Pubmed

Frebourg T, et.al. (2020) Guidelines for the Li-Fraumeni and heritable TP53 related cancer syndromes. Eur J Hum Genet. 28(10); 1379-86. Pubmed

Vos JR, et.al. (2019) Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. Fam Cancer. 18(2); 281-4. Pubmed

Koczkowska M, et.al. (2019) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet. Med. 21(4); 867-76. Pubmed

Sonzogni M, et al. (2019) Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes. Mol Autism. Pubmed

Tonazzini I, et.al. (2019) The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons. Mol Autism. Pubmed

Avagliano Trezza R, et al. (2019) Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome. Nat Neurosci. 22; 1235–47. Pubmed

Kool MJ, et al. (2019) CAMK2-dependent signaling in neurons is essential for survival. J Neurosci. 39; 5424–39. Pubmed

Gripp KW, et al. (2019) Costello Syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Gent A. 179 (9); 1725-1744. Pubmed

Vargas JY, et al. (2019) The Wnt/Ca 2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes. EMBO J. Pubmed

Lans H. et. al. (2019) The DNA damage response to transcription stress. Nature Reviews Mol. Cell Biol. 20:766-784. Pubmed

Kuo M.E. & Theil A.F. et. al. (2019). Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Am J Hum Genet. pii: S0002-9297 Pubmed

Theil A.F. & Botta E. et. al. (2019) Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am J Hum Genet. 105:434-440 Pubmed

Vandervore LV, et.al. (2019) TMX2 is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Am J Hum Genet. Pubmed

Lee S, et.al. (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia and Global Developmental Delay. Am J Hum Genet. Pubmed

Oegema R, et.al. (2019) EML1-associated Brain Overgrowth Syndrome with Ribbon-like Heterotopia. Am J Med Genet C Semin Med Genet. Pubmed

Magini P, et.al. (2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. Pubmed

Oegema R, et.al. (2019) Subcortical Heterotopic Gray Matter Brain Malformations: Classification Study of 107 Individuals. Neurology. Pubmed

Uzguiano A, et.al. (2019) Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. Cell Rep. Pubmed

Liang L, et.al. (2019) De Novo Loss-of-function KCNMA1 Variants are Associated With a New Multiple Malformation Syndrome and a Broad Spectrum of Development and Neurological Phenotypes. Hum Mol Genet. Pubmed

Vandervore LV, et.al. (2019) Heterogeneous Clinical Phenotypes and Cerebral Malformations Reflected by Rotatin Cellular Dynamics. Brain. Pubmed

Diets IJ, et.al. (2019) A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genet. Met. Pubmed

van Woerden GM. (2019) Measuring Electroencephalography: The Ups and Downs of Delta and Beta Bands as Biomarkers for 15q11-q13–Related Disorders. Biol Psychiatry. e45–6. Pubmed

Siebelt M, et al. (2019) Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition. J Pediatr Orthop. 40; e367-74. Pubmed

Vlaskamp DRM, et.al. (2019) SYNGAP1 Encephalopathy: A Distinctive Generalized Developmental and Epileptic Encephalopathy. Neurology. Pubmed

Koene LMC, et al. (2019) Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model. Ann Clin Transl Neurol. 6; 1273–91. Pubmed

Overwater IE, et al. (2019) A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. Neurology. 93; E200–9. Pubmed

Overwater IE, et.al. (2019) Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): Current perspectives. Ther Clin Risk Manag. 951–5. Pubmed

de Vrij FM, et al. (2019) Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia. Mol Psychiatry. 24; 757–71. Pubmed

Wang T, et.al. (2018) Enhanced transmission at the calyx of held synapse in a mouse model for angelman syndrome. Front Cell Neurosci. Pubmed

Rotaru DC, et.al. (2018) Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome. J Neurosci. 38; 8011–30. Pubmed

Sonzogni M, et.al. (2018) A behavioral test battery for mouse models of Angelman syndrome: A powerful tool for testing drugs and novel Ube3a mutants. Mol Autism. 14; 9-47. Pubmed

Onori MP, et al. (2018) The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Hum Mutat. 39; 2008–24. Pubmed

Dobyns WB, et.al. (2018) MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. Pubmed

Vandervore LV, et.al. (2018) Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. Eur J Med Genet. Pubmed

Smith RS, et.al. (2018) Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. Pubmed

Van der Schoot V, et.al. (2018) Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Mol. Genet. Genomic Med. Pubmed

Rietman AB, et al. (2018) Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 177; 319–28. Pubmed

Rietman AB, et al. (2018) Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 176; 1150–60. Pubmed

Eijk S, et al. (2018) Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1). J Autism Dev Disord. 48; 2278–85. Pubmed

Mous SE, et al. (2018) Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study. Eur Child Adolesc Psychiatry. 27; 753–65. Pubmed

Both P, et al. (2018) Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy BehavPubmed

White T, et al. (2018) Paediatric population neuroimaging and the Generation R Study: the second wave. Eur J Epidemiol. 33; 99–125. Pubmed

Zeidler S, et.al.(2018) Fragile X Syndrome: new therapeutic strategies. Tijdschr Psychiatr. 60(5); 338-42 Link

Menoni H & Wienholz F et. al. (2018) The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage.  Nucleic Acids Res. Pubmed

Ribeiro-Silva C. et. al. (2018). DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1. Nat. Commun. 9:4067 Pubmed

Sabatella M. et. al. (2018). Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. Nucleic Acids Res. 12;46(18):9563-9577. Pubmed

Zeidler S, et.al. (2017) Leidraad voor diagnostiek en behandeling van kinderen met het Fragiele X Syndroom. Expertisecentrum ENCORE. Link

Küry S, et al. (2017) De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 101; 768–88. Pubmed

Schreiber J, et al. (2017) Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. Sci Rep. Pubmed

Rietman AB, et al. (2017) Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood. Am J Med Genet A. 173; 2373–80. Pubmed

Rietman AB, et al. (2017) Motor problems in children with neurofibromatosis type 1. J Neurodev Disord. Pubmed

Amirnasr A, et.al. (2017) Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors. PLoS One. 12(8); e0183155. Pubmed

Overwater IE, et al. (2017) Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. J Neurol. 264; 161–7. Pubmed

Reijnders MRF, et al. (2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nat Commun. Pubmed

Reijnders M, et.al. (2017) Variation in a range of mTOR related genes associated with intracranial volume and intellectual disability. Nat Commun. 8(1); 1052. Pubmed

Reijnders MRF, et.al. (2017) RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet. 101(3); 466-77. Pubmed

De Mori R, et.al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranoi-facial and Skeletal Defects. Am J Hum Genet. 101(4); 552-63. Pubmed

Oegema R, et.al. (2017) Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 13(5); e1006809. Pubmed

Theil A.F. et. al. (2017). Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Hum Mol Genet. Dec 1;26(23):4689-4698.  Pubmed

Judson MCC, et al. (2016) GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. Neuron. 90; 56–69. Pubmed

Tonazzini I, et.al. (2016) Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates. Adv Healthc Mater 5; 850–62. Pubmed

Kool MJ, et.al. (2016) The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion. Sci Rep. Pubmed

van der Vaart T, et al. (2016) Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1. Neurology 86;154–60. Pubmed

Overwater IE, et al. (2016) Genotype and brain pathology phenotype in children with tuberous sclerosis complex. Eur J Hum Genet. 24; 1688–95. Pubmed

Overwater IE, et al. (2016) Sirolimus for epilepsy in children with tuberous sclerosis complex. Neurology. 87; 1011–8. Pubmed

Meuwissen ME, et.al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 213(7); 1163-74. Pubmed

Mancini GM, et.al. (2016) CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 86(9); 877-8. Pubmed

Vermeij W.P. et.al. (2016) Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice. Nature. 537(7620), 427-31 Pubmed

Elgersma Y. (2015) Neurodevelopmental disease: A molecular tightrope. Nature 526; 50–1. Pubmed

Silva-Santos S, et.al. (2015) Ube3a reinstatement identifies distinct developmental windows in a murine Angelman Syndrome model. J Clin Invest. 125; 2069-76. Pubmed

Wang T, et.al. (2015) In vivo synaptic transmission and morphology in mouse models of tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. Front Cell Neurosci. Pubmed

van der Vaart T, et.al. (2015) Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments. JAMA Neurol 72; 1052–60. Pubmed

Omrani A, et al. (2015) HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1. Mol Psychiatry 20; 1311–21. Pubmed

Omrani A, et.al. (2015) Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons. Mol Psychiatry. 20; 1263. Pubmed

Overwater IE, et al. (2015) Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Epilepsia. 56; 1239–45. Pubmed

Goorden SMI, et.al. (2015) Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments. Hum Mol Genet 24; 3390–8. Pubmed

Bruinsma CF, et al. (2015) An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. Hum Mol Genet. 25; 1-8. Pubmed

Yilmaz S, et.al. (2015) The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder. Brain Dev. 38(1); 124-7. Pubmed

Nellist M, et.al. (2015) Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 114(3); 467-73. Pubmed

Marteijn JA, Hoeijmakers JH, Vermeulen W (2015) Check, Check …Triple Check: Multi-Step DNA Lesion Identification by Nucleotide Excision Repair. Mol Cell 59:885-6 Pubmed

Tresini M. et al (2015). The core spliceosome as target and effector of non-canonical ATM signaling. Nature. 2;523(7558):53-8. Pubmed

Achterberg KG, et al. (2014) Temporal and region-specific requirements of αCaMKII in spatial and contextual learning. J Neurosci. 34; 11180–7. Pubmed

Peters JM, et al. (2014) Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions. Future Neurol 8; 583–97. Pubmed

Overwater IE, et.al. (2014) Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based. Ann Neurol. Pubmed

Kielar M, et.al. (2014) Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. Nat Neurosci. 17(7); 923-33. Pubmed

Poulton CJ, et.al. (2014) Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? Am J Med Genet A. 164A(9); 2161-71. Pubmed

Mirzaa G, et.al. (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 46(5); 510-5. Pubmed

Raj D.D. et.al. (2014) Priming of microglia in a DNA-repair deficient model of accelerated aging. Neurobiol. Aging. 35(9), 2147-60 Pubmed

Barnhoorn S, et.al. (2014) Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. PLoS Genet. 10(10), e1004686 Pubmed

Oegema, R. et al. (2013) Novel no-stop FLNA mutation causes multi-organ involvement in males. Am J Med Genet A 161, 2376–2384. Pubmed

Oegema, R. et al. (2013) A single strand that links multiple neuropathologies in human disease. BrainPubmed

Meuwissen, M.E.C. et al. (2013) ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet A 161, 1376–1380. Pubmed

Poulton, C. et al. (2013) Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics 14, 43–51. Pubmed

Beukers, W. et al. (2013) HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. Eur J Hum Genet DOI: 10.1038/ejhg.2013.251. Pubmed

Pop, A.S. et al. (2013) Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development. Psychopharmacology (Berl.) Pubmed

de Esch, C.E.F. et al. (2013) Translational endpoints in fragile X syndrome. Neurosci Biobehav Rev. Pubmed

Van Der Vaart, T. et al. (2013) Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol 12, 1076–1083. Pubmed

van Minkelen, R. et al. (2013) A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. Pubmed

Abs, E. et al. (2013) TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice. Ann Neurol 74, 569–579. Pubmed

Overwater, I.E. et al. (2013) Behandelingen voor genetische neurocognitieve aandoeningen. Neuropraxis 5, 132–138. Link

van Eeghen, A.M. et al. (2013) The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines. Neuroradiology 55, 1007–1014. Pubmed

Melser, S. et al. (2013) Rheb regulates mitophagy induced by mitochondrial energetic status. Cell Metabolism 17, 719–730. Pubmed

van Eeghen, A.M. et al. (2013) Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy Res 103, 83–87. Pubmed

Eussen, M.L. et al. (2013) The association of quality of social relations, symptom severity and intelligence with anxiety in children with autism spectrum disorders. Autism 17, 723–735. Pubmed

Marroun, El, H. et al. (2013) Prenatal Tobacco Exposure and Brain Morphology: A Prospective Study in Young Children. Neuropsychopharmacology. Pubmed

Louwerse, A. et al. (2013) Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder. Autism Res. Pubmed

So, P. et al. (2013) Using the Child Behavior Checklist and the Teacher’s Report Form for identification of children with autism spectrum disorders. Autism 17, 595–607. Pubmed

Román, G.C. et al. (2013) Association of gestational maternal hypothyroxinemia and increased autism risk. Ann Neurol. Pubmed

Greaves-Lord, K. et al. (2013) Empirically based phenotypic profiles of children with pervasive developmental disorders: interpretation in the light of the DSM-5. J Autism Dev Disord 43, 1784–1797. Pubmed

White, T. et al. (2013) Pediatric population-based neuroimaging and the Generation R Study: the intersection of developmental neuroscience and epidemiology. Eur. J. Epidemiol. 28, 99–111. Pubmed

Jaspers, M. et al. (2013) Early childhood assessments of community pediatric professionals predict autism spectrum and attention deficit hyperactivity problems. J Abnorm Child Psychol 41, 71–80. Pubmed

Jaarsma D, et.al. (2013) Cockayne syndrome pathogenesis: lessons from mouse models. Mech Ageing Dev. 134(5-6), 180-95 Pubmed

Steinkellner, T. et al. (2012) Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. J Biol Chem 287, 29627–29635. Pubmed

Verhagen, J.M.A. et al. (2012) Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet 158, 2412–2420. Link

Kheradmand Kia, S. et al. (2012) RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet 91, 533–540. Pubmed

Verbeek, E. et al. (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 20, 844–851. Pubmed

Oegema, R. et al. (2012) Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. Am J Med Genet A 158, 1472–1476. Pubmed

Meuwissen, M.E.C. and Mancini, G.M.S. (2012) Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet 55, 323–331. Pubmed

Pop, A.S. et al. (2012) Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant. Psychopharmacology (Berl.) Pubmed

Vinueza Veloz, M.F. et al. (2012) The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice. Genes Brain Behav 11, 325–331. Pubmed

Castrén, E. et al. (2012) Treatment of neurodevelopmental disorders in adulthood. J Neurosci 32, 14074–14079. Link

Acosta, M.T. et al. (2012) The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Am J Med Genet A 158, 2225–2232. Pubmed

van Eeghen, A.M. et al. (2012) Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Dev Med Child Neurol 55, 146–153. Pubmed

Hoogeveen-Westerveld, M. et al. (2012) Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Hum Mutat. Pubmed

van Eeghen, A.M. et al. (2012) Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet 20, 510–515. Pubmed

van Eeghen, A.M. et al. (2012) Cognitive and adaptive development of patients with tuberous sclerosis complex: A retrospective, longitudinal investigation. Epilepsy Behav 23, 10–15. Pubmed

Baudouin, S.J. et al. (2012) Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism. Science 338, 128–132. Pubmed

van der Vlugt, J.J.B. et al. (2012) Cognitive and behavioral functioning in 82 patients with trigonocephaly. Plast. Reconstr. Surg. 130, 885–893. Pubmed

Hermans, H. et al. (2012) Feasibility, reliability and validity of the Dutch translation of the Anxiety, Depression And Mood Scale in older adults with intellectual disabilities. Res Dev Disabil 33, 315–323. Pubmed

Vuijk, R. et al. (2012) Personality traits in adults with autism spectrum disorders measured by means of the Temperament and Character Inventory. Tijdschr Psychiatr 54, 699–707. Pubmed

Poulton, C.J. et al. (2011) Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet 89, 265–276. Pubmed

de Wit, M.C.Y. et al. (2011) Lung disease in FLNA mutation: confirmatory report. Eur J Med Genet 54, 299–300. Pubmed

de Wit, M.C.Y. et al. (2011) Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. Dev Med Child Neurol 53, 417–421. Pubmed

Meuwissen, M.E.C. et al. (2011) Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 76, 844–846. Pubmed

de Wit, M.C.Y. et al. (2011) Combined cardiological and neurological abnormalities due to filamin A gene mutation. Clin Res Cardiol 100, 45–50. Pubmed

Levenga, J. et al. (2011) AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis 42, 311–317. Pubmed

Levenga, J. et al. (2011) Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice. Neurobiol Learn Mem 95, 467–472. Pubmed

van der Vaart, T. et al. (2011) Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum. Genes Brain Behav 10, 404–409. Pubmed

Krab, L.C. et al. (2011) Motor learning in children with neurofibromatosis type I. Cerebellum 10, 14–21. Pubmed

Goorden, S.M.I. et al. (2011) Rheb is essential for murine development. Mol Cell Biol 31, 1672–1678. Pubmed

Goorden, S.M.I. and Elgersma, Y. (2011) Rheb: enrichment beyond the brain. Cell Cycle 10, 2412–2413. Pubmed

van den Ouweland, A.M.W. et al. (2011) Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. Eur J Hum Genet 19, 157–163. Pubmed

van Eeghen, A.M. et al. (2011) Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav 20, 68–74. Pubmed

Jaarsma D, et.al. (2011) Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet. 7(12), e1002405 Pubmed

Borgesius N.Z. et.al. (2011) Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair. J Neurosci. 31(35), 12543-53 Pubmed

de Wit, M.C.Y. et al. (2010) Absence epilepsy and periventricular nodular heterotopia. Seizure 19, 450–452. Pubmed

Oegema, R. et al. (2010) KBG syndrome associated with periventricular nodular heterotopia. Clin. Dysmorphol. 19, 164–165. Pubmed

Verkerk, A.J.M.H. et al. (2010) Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A 152, 1488–1497. Pubmed

de Wit, M.-C.Y. et al. (2010) Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. Am J Med Genet A 152, 954–959. Pubmed

Levenga, J. et al. (2010) Potential therapeutic interventions for fragile X syndrome. Trends Mol Med 16, 516–527. Pubmed

Nijmeijer, J.S. et al. (2010) Perinatal risk factors interacting with catechol O-methyltransferase and the serotonin transporter gene predict ASD symptoms in children with ADHD. J Child Psychol Psychiatry 51, 1242–1250. Pubmed

Tiemeier, H. et al. (2010) Cerebellum development during childhood and adolescence: a longitudinal morphometric MRI study. Neuroimage 49, 63–70. Pubmed

De Waard M.C. et.al. (2010) Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathol. 120(4), 461-75 Pubmed

de Wit, M.C.Y. et al. (2009) Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. Neurogenetics 10, 333–336. Pubmed

Verkerk, A.J.M.H. et al. (2009) Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 85, 40–52. Pubmed

de Wit, M.C.Y. et al. (2009) Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. J Neurol Neurosurg Psychiatry 80, 426–428. Pubmed

Brouwer, J.R. et al. (2009) The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am. J. Med Genet B Neuropsychiatr Genet, 150, 782–798. Pubmed

Levenga, J. et al. (2009) Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. Neurobiol Dis 35, 241–250. Pubmed

Van’t Padje, S. et al. (2009) Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish. J. Exp. Biol. 212, 2564–2570. Pubmed

Krab, L.C. et al. (2009) Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. J Pediatr 154, 420–5, 425.e1. Pubmed

de Bruin, E.I. et al. (2009) Autistic features in girls from a psychiatric sample are strongly associated with a low 2D:4D ratio. Autism 13, 511–521. Pubmed

Woerden G, et.al. (2009) betaCaMKll controls the direction of plasticity at parallel fiber-Purkinje cell synapses. Nat Neurosci. 12(7); 823-5. Pubmed

Maingay-de Groof, F. et al. (2008) Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur J Paediatr Neurol 12, 284–289. Pubmed

de Wit, M.C.Y. et al. (2008) Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification. Arch Neurol 65, 358–366. Pubmed

Krab, L.C. et al. (2008) Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases. Trends Genet 24, 498–510. Pubmed

Brouwer, J.R. et al. (2008) CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107, 1671–1682. Pubmed

Smit, A.E. et al. (2008) Savings and extinction of conditioned eyeblink responses in fragile X syndrome. Genes Brain Behav 7, 770–777. Pubmed

de Vrij, F.M.S. et al. (2008) Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis 31, 127–132. Pubmed

Brouwer, J.R. et al. (2008) Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 33, 863–873. Pubmed

Denayer, E. et al. (2008) Spred1 is required for synaptic plasticity and hippocampus-dependent learning. J Neurosci 28, 14443–14449. Pubmed

Cui, Y. et al. (2008) Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 135, 549–560. Pubmed

Krab, L.C. et al. (2008) Impact of neurofibromatosis type 1 on school performance. J Child Neurol 23, 1002–1010. Pubmed

Krab, L.C. et al. (2008) Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. JAMA 300, 287–294. Pubmed

Balgobind, B.V. et al. (2008) Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. Blood 111, 4322–4328. Pubmed

van Engelen, S.J.P.M. et al. (2008) Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. AJNR Am J Neuroradiol 29, 816–822. Pubmed

Herba, C.M. et al. (2008) Face and emotion recognition in MCDD versus PDD-NOS. J Autism Dev Disord 38, 706–718. Pubmed

van Woerden, G.M. et al. (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci 10, 280–282. Pubmed

Elgersma, Y. (2007) Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome. Pharmacogenomics 8, 539–541. Pubmed

Govaerts, L.C.P. et al. (2007) Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene. Clin Genet 72, 138–144. Pubmed

Brouwer, J.R. et al. (2007) Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res 313, 244–253. Pubmed

Oostenbrink, R. et al. (2007) Parental reports of health-related quality of life in young children with neurofibromatosis type 1: influence of condition specific determinants. J Pediatr 151, 182–6– 186.e1–2. Pubmed

Goorden, S.M.I. et al. (2007) Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures. Ann Neurol 62, 648–655. Pubmed

de Bruin, E.I. et al. (2007) Multiple complex developmental disorder delineated from PDD-NOS. J Autism Dev Disord 37, 1181–1191. Pubmed

de Bruin, E.I. et al. (2007) High rates of psychiatric co-morbidity in PDD-NOS. J Autism Dev Disord 37, 877–886. Pubmed

Hojjati M, et.al. (2007) Kinase activity is not required for alphaCaMKll-dependent presynaptic plasticity at CA3-CA1 synapses. Nat Neurosci. 10(9); 1125-7. Pubmed

van Ramshorst, G.H. et al. (2006) A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis. J. Pediatr. Surg. 41, e19–23. Pubmed

de Wit, M.C.Y. et al. (2006) Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics 7, 259–263. Pubmed

Breedveld, G. et al. (2006) Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 43, 490–495. Pubmed

de Wit, M.C.Y. et al. (2006) Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. Mol. Genet. Metab. 87, 102–106. Pubmed

Mientjes, E.J. et al. (2006) The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis 21, 549–555. Pubmed

de Bruin, E.I. et al. (2006) Differences in finger length ratio between males with autism, pervasive developmental disorder-not otherwise specified, ADHD, and anxiety disorders. Dev Med Child Neurol 48, 962–965. Pubmed

de Bruin, E.I. et al. (2006) WISC-R subtest but no overall VIQ-PIQ difference in Dutch children with PDD-NOS. J Abnorm Child Psychol 34, 263–271. Pubmed

Hansel C, et.al. (2006) alphaCaMKll is essential for cerebellar LTD and motor learning. Neuron. 51(6); 835-43. Pubmed

Brooks, A.S. et al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet 77, 120–126. Pubmed

Mancini, G.M.S. et al. (2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am. J. Med. Genet. A 132, 288–295. Pubmed

Kushner, S.A. et al. (2005) Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway. J Neurosci 25, 9721–9734. Pubmed

Koekkoek, S.K.E. et al. (2005) Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron 47, 339–352. Pubmed

van ’t Padje, S. et al. (2005) Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene. Dev. Genes Evol. 215, 198–206. Pubmed

Blonden, L. et al. (2005) Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis. Int. J. Dev. Biol. 49, 437–441. Pubmed

Sancak, O. et al. (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 13, 731–741. Pubmed

Nellist, M. et al. (2005) Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. Genet. Test. 9, 226–230. Pubmed

Mancini, G.M.S. et al. (2004) Hereditary porencephaly: clinical and MRI findings in two Dutch families. Eur J Paediatr Neurol 8, 45–54. Pubmed

Stoyanova, V. et al. (2004) Loss of FMR1 hypermethylation in somatic cell heterokaryons. FASEB J. 18, 1964–1966. Pubmed

Schrier, M. et al. (2004) Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells. Exp Neurol 189, 343–353. Pubmed

Mientjes, E.J. et al. (2004) Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet 13, 1291–1302. Pubmed

Elgersma Y, et.al. (2004) Mouse genetic approaches to investigating calcium/calmodulin-dependent protein kinase ll function in plasticity and cognition. J Neurosci. 24(39); 8410-5. Pubmed

Nellist, M. et al. (2003) Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins. Biochem Soc Trans 31, 587–591. Pubmed

De Diego Otero, Y. et al. (2002) Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. Mol Cell Biol 22, 8332–8341. Pubmed

Willemsen, R. et al. (2002) Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet 110, 601–605. Pubmed

Bontekoe, C.J.M. et al. (2002) Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet 11, 487–498. Pubmed

Dekker, M.C. et al. (2002) Assessing emotional and behavioral problems in children with intellectual disability: revisiting the factor structure of the developmental behavior checklist. J Autism Dev Disord 32, 601–610. Pubmed

van der Geest, J.N. et al. (2002) Gaze behavior of children with pervasive developmental disorder toward human faces: a fixation time study. J Child Psychol Psychiatry 43, 669–678. Pubmed

van der Geest, J.N. et al. (2002) Looking at images with human figures: comparison between autistic and normal children. J Autism Dev Disord 32, 69–75. Pubmed

Elgersma Y, et.al. (2002) Inhibitory autophosphorylation of CaMKll controls PSD association, plasticity and learning. Neuron. 36(3); 493-505. Pubmed

Bontekoe, C.J. et al. (2001) Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum Mol Genet 10, 1693–1699. Pubmed

Nellist, M. et al. (2001) TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. Hum Mol Genet 10, 2889–2898. Pubmed

Goedbloed, M.A. et al. (2001) Analysis of TSC2 stop codon variants found in tuberous sclerosis patients. Eur J Hum Genet 9, 823–828. Pubmed

Willemsen, R. et al. (2000) Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype. J Med Genet 37, 603–604. Pubmed

Bakker, C.E. et al. (2000) Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res 258, 162–170. Pubmed

Tamanini, F. et al. (2000) The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum Mol Genet 9, 1487–1493. Pubmed

van den Ouweland, A.M. et al. (1999) Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. J Med Genet 36, 723–724. Pubmed

Fang, P. et al. (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8, 129–135. Pubmed

Willemsen, R. et al. (1999) Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet 65, 98–103. Pubmed

de Vries, B.B. et al. (1999) Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group. J Med Genet 36, 467–470. Pubmed

Tamanini, F. et al. (1999) Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum Mol Genet 8, 863–869. Pubmed

de Vries, B.B. et al. (1999) Dilemmas in counselling females with the fragile X syndrome. J Med Genet 36, 167–170. Pubmed

Wildhagen, M.F. et al. (1999) Efficacy of cascade testing for fragile X syndrome. J Med Screen 6, 70–76. Pubmed

Nellist, M. et al. (1999) Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. J Biol Chem 274, 35647–35652. Pubmed

Verhoef, S. et al. (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64, 1632–1637. Pubmed

van Slegtenhorst, M. et al. (1999) Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. J Med Genet 36, 285–289. Pubmed

Verhoef, S. et al. (1999) Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. Eur J Pediatr 158, 284–287. Pubmed

Buiting, K. et al. (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63, 170–180. Pubmed

de Vries, B.B. et al. (1998) Screening with the FMR1 protein test among mentally retarded males. Hum Genet 103, 520–522. Pubmed

Cnossen, M.H. et al. (1998) Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children. J Med Genet 35, 624–627. Pubmed

Cnossen, M.H. et al. (1998) A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch. Dis. Child. 78, 408–412. Pubmed

van Slegtenhorst, M. et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7, 1053–1057. Pubmed

Wang, Q. et al. (1998) Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online. Hum Mutat 11, 331–332. Pubmed

Cnossen, M.H. et al. (1997) Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics 100, 667–670. Pubmed

Cnossen, M.H. et al. (1997) Diagnostic delay in neurofibromatosis type 1. Eur J Pediatr 156, 482–487. Pubmed

Cnossen, M.H. et al. (1997) Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 9, 458–464. Pubmed

van Slegtenhorst, M. et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805–808. Pubmed

Horsthemke, B. et al. (1996) Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. J Med Genet 33, 848–851. Pubmed

Rinke de Wit, T.F. et al. (1996) Expression of tyrosine kinase gene in mouse thymic stromal cells. Int Immunol. 8, 1787–1795. Pubmed

Vrtel, R. et al. (1996) Identification of a nonsense mutation at the 5′ end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. J Med Genet 33, 47–51. Pubmed

Halley, D.J. (1996) Tuberous sclerosis: between genetic and physical analysis. Acta Genet Med Gemellol (Roma) 45, 63–75. Pubmed

van den Ouweland, A.M. et al. (1995) DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 95, 562–567. Pubmed

van Slegtenhorst, M. et al. (1995) Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. Eur J Hum Genet 3, 78–86. Pubmed

Janssen, B. et al. (1994) Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families. Hum Genet 94, 437–440. Pubmed

Verheij, C. et al. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363, 722–724. Pubmed

Reyniers, E. et al. (1993) The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 4, 143–146. Pubmed

Verkerk, A.J. et al. (1993) Alternative splicing in the fragile X gene FMR1. Hum Mol Genet 2, 399–404. Pubmed

De Boulle, K. et al. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3, 31–35. Pubmed

de Vries, B.B. et al. (1993) Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1, 72–79. Pubmed

Willems, P.J. et al. (1992) Segregation of the fragile X mutation from an affected male to his normal daughter. Hum Mol Genet 1, 511–515. Pubmed

Verkerk, A.J. et al. (1992) Intragenic probe used for diagnostics in fragile X families. Am J Med Genet 43, 192–196. Pubmed

Oostra, B.A. and Verkerk, A.J. (1992) The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation. Chromosoma 101, 381–387. Pubmed

Faust, C.J. et al. (1992) Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Genomics 12, 814–817. Pubmed

Verkerk, A.J. et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914. Pubmed