Association AP. DSM 5. 5th edn. Washington DC: American Psychiatric Association; 2013.
Organization W. The ICD-10 classification of mental and behavioural disorders: Diagnostic Criteria for Research. 1993.
Bloom B, Cohen R, Freeman G. Summary health statistics for U.S. children: National Health Interview Survey, 2009. Vital Health Stat. 2010;247:1–82.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. JAMA. 2015;314:895–903.
Thapar A, Cooper M, Eyre O, Langley K. Practitioner Review: What have we learnt about the causes of ADHD? J Child Psychol Psychiatry. 2016;54:3–16.
Gallo EF, Posner J. Moving towards causality in attention-deficit hyperactivity disorder: Overview of neural and genetic mechanisms. Lancet Psychiatry. 2017;3:555–67.
Neece CL, Baker BL, Crnic K, Blacher J. Examining the validity of ADHD as a diagnosis for adolescents with Intellectual Disabilities: Clinical presentation. J Abnorm Child Psychol. 2013;41:597–612.
Russell HF, Wallis D, Mazzocco MM, Moshang T, Zacka E, Zinn AR, Ross JL, Muenke M. Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects. J Pediatr Psychol. 2006;31:945–55.
Mautner V-F, Kluwe L, Thakker SD, Leark RA. Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol. 2002;44:164–70.
Pierpont EI, Tworog‐Dube E, Roberts AE. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Dev Med Child Neurol. 2015;57:385–92.
Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–44.
Garg S, Green J, Leadbitter K, Emsley R, Lehtonen A, Evans DG, Huson SM. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics. 2013;132:e1642–8.
Green T, Shrestha SB, Chromik LC, Rutledge K, Pennington BF, Hong DS, Reiss L. A. Elucidating X chromosome influences on Attention Deficit Hyperactivity Disorder and executive function. J Psychiatr Res. 2015;68:217–25.
Payne JM, Hyman SL, Shores EA, North KN. Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior. Child Neuropsychol. 2011;17:313–29.
Dennis EL, Thompson PM. Typical and atypical brain development: A review of neuroimaging studies. Dialogues Clin Neurosci. 2013;15:359–84.
Green T, Chromik LC, Mazaika PK, Fierro K, Raman MM, Lazzeroni LC, Hong DS, Reiss AL. Aberrant parietal cortex developmental trajectories in girls with turner syndrome and related visual–spatial cognitive development: A preliminary study. Am J Med Genet B Neuropsychiatr Genet. 2014;165:531–40.
Brown WE, Kesler SR, Eliez S, Warsofsky IS, Haberecht M, Reiss AL. A volumetric study of parietal lobe subregions in Turner syndrome. Dev Med Child Neurol. 2004;46:607–9.
Raznahan A, Lee Y, Stidd R, Long R, Greenstein D, Clasen L, Addington A, Gogtay N, Rapoport JL, Giedd JN. Longitudinally mapping the influence of sex and androgen signaling on the dynamics of human cortical maturation in adolescence. Proc Natl Acad Sci U S A. 2010;107:16988–93.
Holzapfel M, Barnea-Goraly N, Eckert MA, Kesler SR, Reiss AL. Selective Alterations of White Matter Associated with Visuospatial and Sensorimotor Dysfunction in Turner Syndrome. J Neurosci. 2006;26:7007–13.
Yamagata B, Barnea-Goraly N, Marzelli MJ, Park Y, Hong DD, Mimura M, Reiss AL. White matter aberrations in prepubertal estrogen-naive girls with monosomic Turner Syndrome. Cereb Cortex. 2012;22:2761–8.
Haberecht MF, Menon V, Warsofsky IS, White CD, Dyer‐Friedman J, Glover GH, Neely EK, Reiss AL. Functional neuroanatomy of visuo‐spatial working memory in turner syndrome. Hum Brain Mapp. 2001;14:96–107.
Hart SJ, Davenport ML, Hooper SR, Belger A. Visuospatial executive function in Turner syndrome: Functional MRI and neurocognitive findings. Brain. 2006;129:1125–36.
Tamm L, Menon V, Reiss AL. Abnormal prefrontal cortex function during response inhibition in turner syndrome: Functional magnetic resonance imaging evidence. Biol Psychiatry. 2003;53:107–11.
Xie S, Yang J, Zhang Z, Zhao C, Bi Y, Zhao Q, Pan H, Gong G. The effects of the X Chromosome on intrinsic functional connectivity in the human brain: Evidence from Turner Syndrome Patients. Cereb Cortex. 2017;27:474–84.
Raznahan A, Lue Y, Probst F, Greenstein D, Giedd J, Wang C, Lerch J, Swerdloff R. Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies. Brain Struct Funct. 2015;3581:220:3581-93.
Lynn PM, Davies W. The 39, XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders. Behav Brain Res. 2007;179:173–82.
Davies W. Using mouse models to investigate sex-linked genetic effects on brain, behaviour and vulnerability to neuropsychiatric disorders. Brain Res Bull. 2013;92:12–20.
Billiet T, Madler B, D’Arco F, Peeters R, Deprez S, Plasschaert E, Leemans A, Zhang H, den Bergh BV, Vandenbulcke M, et al. Characterizing the microstructural basis of “unidentified bright objects” in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin. 2014;4:649–58.
Payne JM, Pickering T, Porter M, Oates EC, Walia N, Prelog K, North KN. Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study. Am J Med Genet. 2014;164a:661–5.
Payne JM, Moharir MD, Webster R, North KN. Brain structure and function in neurofibromatosis type 1: Current concepts and future directions. J Neurol Neurosurg Psychiatry. 2010;81:304–9.
Margariti PN, Blekas K, Katzioti FG, Zikou AK, Tzoufi M, Argyropoulou MI. Magnetization transfer ratio and volumetric analysis of the brain in macrocephalic patients with neurofibromatosis type 1. Eur Radiol. 2007;17:433–8.
Huijbregts SC, Loitfelder M, Rombouts SA, Swaab H, Verbist BM, Arkink EB, Van Buchem MA, Veer IM. Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms. J Neurodev Disord. 2015;7:32.
Karlsgodt KJ, Rosser T, Lutkenhoff ES, Cannon TD, Silva A, Bearden CE. Alterations in White Matter Microstructure in Neurofibromatosis-1. PLoS One. 2012;7:e47854.
Loitfelder M, Huijbregts SCJ, Veer IM, Swaab HS, Van Buchem MA, Schmidt R, Rombouts SA. Functional connectivity changes and executive and social problems in neurofibromatosis type I. Brain Connect. 2015;5:312–20.
Tomson SN, Schreiner MJ, Narayan M, Rosser T, Enrique N, Silva AJ, Allen GI, Bookheimer SY, Bearden CE. Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1. Hum Brain Mapp. 2015;36:4566–81.
Sanchez-Ortiz E, Cho W, Nazarenko I, Mo W, Chen J, Parada LF. NF1 regulation of RAS/ERK signaling is required for appropriate granule neuron progenitor expansion and migration in cerebellar development. Genes Dev. 2014;28:2407–20.
Keh YS, Abernethy L, Pettorini B. Association between Noonan syndrome and Chiari I malformation: A case-based update. Childs Nerv Syst. 2013;29:749–52.
Zarate YA, Lichty AW, Champion KJ, Clarkson LK, Holden KR, Matheus MG. Unique cerebrovascular znomalies in Noonan Syndrome with RAF1 mutation. J Child Neurol. 2014;29:13–7.
Søvik O, Schubert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet. 2007;44:e84.
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet. 2013;161a:2420–30.
Davies W. Sex differences in attention Deficit Hyperactivity Disorder: Candidate genetic and endocrine mechanisms. Front Neuroendocrinol. 2014;35:331–46.
Trent S, Davies W. The influence of sex-linked genetic mechanisms on attention and impulsivity. Biol Psychol. 2012;89:1–13.
Gao F, Chang D, Biddanda A, Ma L, Guo Y, Zhou Z, Keinan A. XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome. J Hered. 2015;106:666–71.
Lyon MF. X-chromosome inactivation. Curr Biol. 1999;9:R235–7.
Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400–4.
Skuse DH, James RS, Bishop DVM, Coppin B, Dalton P, Aamodt-Leeper G, Bavarese-Hamilton M, Creswell C, McGurk R, Jacobs PA. Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature. 1997;387:705–8.
Davies W, Humby T, Kong W, Otter T, Burgoyne PS, Wilkinson LS. Converging pharmacological and genetic evidence indicates a role for steroid sulfatase in attention. Biol Psychiatry. 2009;66:360–7.
Lepage JF, Hong DS, Hallmayer J, Reiss AL. Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome. J Clin Endocrinol Metab. 2012;97:E460–4.
Davies W, Isles A, Smith R, Karunadasa D, Burrmann D, Humby T, Ojarikre O, Biggin C, Skuse D, Burgoyne P, Wilkinson L. Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice. Nat Genet. 2005;37:625–9.
Aguiar A, Eubig PA, Schantz SL. Attention deficit/hyperactivity disorder: A focused overview for children’s environmental health researchers. Environ Health Perspect. 2010;118:1646–53.
Loesch DZ, Bui QM, Kelso W, Huggins RM, Slater H, Warne G, Bergman PB, Rodda C, Mitchell RJ, Prior M. Effect of Turner’s syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data. Brain Dev. 2005;27:494–503.
Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. Br Med Bull. 2008;86:77–93.
Freriks K, Verhaak CM, Sas TC, Menke LA, Wit JM, Otten BJ, de Muinck Keizer-Schrama SM, Smeets DF, Netea-Maier RT, Hermus AR, et al. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome. Horm Behav. 2015;69:59–67.
Ross JL, Stefanatos GA, Kushner H, Bondy C, Nelson L, Zinn A, Roeltgen D. The effect of genetic differences and ovarian failure: Intact cognitive function in adult women with premature ovarian failure versus Turner syndrome. J Clin Endocrinol Metab. 2004;89:1817–22.
Kopsida E, Stergiakouli E, Lynn PM, Wilkinson LS, Davies W. The Role of the Y Chromosome in Brain Function. Open Neuroendocrinol J. 2009;2:20–30.
Zinn AR, Roeltgen D, Stefanatos G, Ramos P, Elder FF, Kushner H, Kowal K, Ross JL. A Turner syndrome neurocognitive phenotype maps to Xp22.3. Behav Brain Funct. 2007;3:24.
Berletch JB, Yang F, Xu J, Carrel L, Disteche CM. Genes that escape from X inactivation. Hum Genet. 2011;130:237–45.
Davies W, Humby T, Isles AR, Burgoyne PS, Wilkinson LS. X-monosomy effects on visuospatial attention in mice: a candidate gene and implications for Turner syndrome and attention deficit hyperactivity disorder. Biol Psychiatry. 2007;61:1351–60.
Trent S, Dean R, Veit B, Cassano T, Bedse G, Ojarikre OA, Humby T, Davies W. Biological mechanisms associated with increased perseveration and hyperactivity in a genetic mouse model of neurodevelopmental disorder. Psychoneuroendocrinology. 2013;38:1370–80.
Trent S, Dennehy A, Richardson H, Ojarikre OA, Burgoyne PS, Humby T, Davies W. Steroid sulfatase-deficient mice exhibit endophenotypes relevant to attention deficit hyperactivity disorder. Psychoneuroendocrinology. 2012;37:221–9.
Brookes KJ, Hawi Z, Kirley A, Barry E, Gill M, Kent L. Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder. Am J Med Genet. 2008;147B:1531–5.
Stergiakouli E, Langley K, Williams H, Walters J, Williams NM, Suren S, Giegling I, Wilkinson LS, Owen MJ, O’Donovan MC, et al. Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder. Genes Brain Behav. 2011;10:334–44.
Good CD, Lawrence K, Thomas NS, Price CJ, Ashburner J, Friston KJ, Frackowiak RSJ, Oreland L, Skuse DH. Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. Brain. 2003;126:2431–46.
Startin CM, Fiorentini C, de Haan M, Skuse DH. Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. PLoS One. 2015;10:e0131604.
Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Hum Mol Genet. 2007;16:107–13.
Zinn AR, Kushner H, Ross JL. EFHC2 SNP rs7055196 is not associated with fear recognition in 45, X Turner syndrome. Am J Med Genet. 2008;147B:507–9.
Aspan N, Bozsik C, Gadoros J, Nagy P, Inantsy-Pap J, Vida P, Halasz J. Emotion recognition pattern in adolescent boys with Attention-Deficit/Hyperactivity Disorder. BioMed Res Int. 2014;4:1–8.
He N, Li F, Li Y, Guo L, Chen L, Huang X, Lui S, Gong Q. Neuroanatomical deficits correlate with executive dysfunction in boys with attention deficit hyperactivity disorder. Neurosci Lett. 2015;600:45–9.
Seidman LJ, Biederman J, Liang L, Valera EM, Monuteaux MC, Brown A, Kaiser J, Spencer T, Faraone SV, Makris N. Gray matter alterations in adults with attention-deficit/hyperactivity disorder identified by voxel based morphometry. Biol Psychiatry. 2011;69:857–66.
Semrud-Clikeman M, Pliszka SR, Bledsoe J, Lancaster J. Volumetric MRI differences in treatment naive and chronically treated adolescents with ADHD-combined type. J Atten Disord. 2014;18:511–20.
Martinez-Garay I, Jablonka S, Sutajova M, Steuernagel P, Gal A, Katsche K. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: Implications for recombinations in this region. Genomics. 2002;80:259–67.
Ohlsson C, Wallaschofski H, Lunetta KL, Stolk L, Perry JR, Koster A, Petersen AK, Eriksson J, Lehtimaki T, Huhtaniemi IT, et al. Genetic determinants of serum testosterone concentrations in men. PLoS Genet. 2011;7:e1002313.
Massingham LJ, Johnson KL, Scholl TM, Slonim DK, Wick HC, Bianchi DW. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome. Hum Genet. 2014;133:1075–82.
Mick E, Todorov A, Smalley S, Hu X, Loo S, Todd RD, Biederman J, Byrne D, Dechairo B, Guiney A, et al. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:898–905.e893.
Shim SH, Hwangbo Y, Kwon YJ, Lee HY, Kim JH, Yoon HK, Hwang JA, Kim YK. Association between glycogen synthase kinase-3beta gene polymorphisms and attention deficit hyperactivity disorder in Korean children: A preliminary study. Prog Neuropsychopharmacol Bio Psychiatry. 2012;39:57–61.
Ribases M, Bosch R, Hervas A, Ramos-Quiroga JA, Sanchez-Mora C, Bielsa A, Gastaminza X, Guijarro-Domingo S, Nogueira M, Gomez-Barros N, et al. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biol Psychiatry. 2009;66:926–34.
Zhang R, Hao L, Wang L, Chen M, Li W, Li R, Yu J, Xiao J, Wu J. Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes. BMC Genomics. 2013;14 Suppl 5:S8.
Elia J, Sackett J, Turner T, Schardt M, Tang SC, Kurtz N, Dunfey M, McFarlane NA, Susi A, Danish D, et al. Attention-deficit/hyperactivity disorder genomics: Update for clinicians. Curr Psychiatry Rep. 2012;14:579–89.
Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, et al. Molecular genetics of adult ADHD: Converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm. 2008;115:1573–85.
Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature. 2002;415:526–30.
Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ. Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell. 2008;135:549–60.
Shilyansky C, Karlsgodt KH, Cummings DM, Sidiropoulou K, Hardt M, James AS, Ehninger D, Bearden CE, Poirazi P, Jentsch JD, et al. Neurofibromin regulates corticostriatal inhibitory networks during working memory performance. Proc Natl Acad Sci U S A. 2010;107:13141–6.
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 2005;15:1961–7.
Ribeiro MJ, d’Almeida OC, Ramos F, Saraiva J, Silva ED, Castelo-Branco M. Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: A link to visual and attention deficits. J Neurodev Disord. 2014;6:4.
Ribeiro MJ, Violante IR, Bernardino I, Edden RA, Castelo-Branco M. Abnormal relationship between GABA, neurophysiology and impulsive behavior in neurofibromatosis type 1. Cortex. 2015;64:194–208.
Molosh AI, Johnson PL, Spence JP, Arendt D, Federici LM, Bernabe C, Janasik SP, Segu ZM, Khanna R, Goswami C, et al. Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase. Nat Neurosci. 2014;17:1583–90.
Brown JA, Emnett RJ, White CR, Yuede CM, Conyers SB, O’Malley KL, Wozniak DF, Gutmann DH. Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet. 2010;19:4515–28.
Anastasaki C, Woo AS, Messiaen LM, Gutmann DH. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet. 2015;24:3518–28.
D’Amico AG, Castorina A, Leggio GM, Drago F, D’Agata V. Hippocampal neurofibromin and amyloid precursor protein expression in dopamine D3 receptor knock-out mice following passive avoidance conditioning. Neurochem Res. 2013;38:564–72.
Donarum EA, Halperin RF, Stephan DA, Narayanan V. Cognitive dysfunction in NFI knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex. BMC Neurosci. 2006;7:22.
van der Voet M, Harich B, Franke B, Schenck A. ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila. Mol Psychiatry. 2016;21:565–73.
Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kuhnisch J, Morreau H, Hes FJ, et al. Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. PLoS One. 2015;10:e0119030.
Fairchild G. Hypothalamic-pituitary-adrenocortical axis function in attention-deficit hyperactivity disorder. Curr Top Behav Neurosci. 2012;9:93–111.
Ehrman LA, Nardini D, Ehrman S, Rizvi TA, Gulick J, Krenz M, Dasgupta B, Robbins J, Ratner N, Nakafuku M, Waclaw RR. The protein tyrosine phosphatase Shp2 is required for the generation of oligodendrocyte progenitor cells and myelination in the mouse telencephalon. J Neurosci. 2014;34:3767–78.
Lee YS, Ehninger D, Zhou M, Oh JY, Kang M, Kwak C, Ryu HH, Butz D, Araki T, Cai Y, et al. Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. Nat Neurosci. 2014;17:1736–43.
Gauthier AS, Furstoss O, Araki T, Chan R, Neel BG, Kaplan DR, Miller FD. Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome. Neuron. 2007;54:245–62.
Kusakari S, Saitow F, Ago Y, Shibasaki K, Sato-Hashimoto M, Matsuzaki Y, Kotani T, Murata Y, Hirai H, Matsuda T, et al. Shp2 in forebrain neurons regulates synaptic plasticity, locomotion, and memory formation in mice. Mol Cell Biol. 2015;35:1557–72.
Diggs-Andrews KA, Brown JA, Gianino SM, Rubin JB, Wozniak DF, Gutmann DH. Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann Neurol. 2014;75:309–16.
Schorry EK, Lovell AM, Milatovich A, Saal HM. Ullrich-Turner syndrome and neurofibromatosis-1. Am J Med Genet. 1996;66:423–5.
Oliveira AF, Yasuda R. Neurofibromin Is the Major Ras Inactivator in Dendritic Spines. J Neurosci. 2014;34:776–83.
Apostolova I, Niedzielska D, Derlin T, Koziolek EJ, Amthauer H, Salmen B, Pahnke J, Brenner W, Mautner VF, Buchert R. Perfusion single photon emission computed tomography in a mouse model of neurofibromatosis type 1: towards a biomarker of neurologic deficits. J Cereb Blood Flow Metab. 2015;35:1304–12.
Davies W. Evidence suggesting a role for X-linked imprinted gene functioning on brain and behaviour in mice: A phenotypic investigation, Ph.D thesis, University of Cambridge. 2003.
Isles AR, Davies W, Burrmann D, Burgoyne PS, Wilkinson LS. Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner’s syndrome. Hum Mol Genet. 2004;13:1849–55.
Lopes AM, Burgoyne PS, Ojarikre A, Bauer J, Sargent CA, Amorim A, Affara NA. Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome. BMC Genomics. 2010;11:82.
Park CS, Zhong L, Tang SJ. Aberrant expression of synaptic plasticity-related genes in the NF1+/- mouse hippocampus. J Neurosci Res. 2009;87:3107–19.
Posner MI. Imaging attention networks. Neuroimage. 2012;61:450–6.
Humby T, Eddy JB, Good MA, Reichelt AC, Wilkinson LS. A novel translational assay of response inhibition and impulsivity: effects of prefrontal cortex lesions, drugs used in ADHD, and serotonin 2C receptor antagonism. Neuropsychopharmacology. 2013;38:2150–9.
Humby T, Laird FM, Davies W, Wilkinson LS. Visuospatial attentional functioning in mice: interactions between cholinergic manipulations and genotype. Eur J Neurosci. 1999;11:2813–23.
Romberg C, Bussey TJ, Saksida LM. Paying more attention to attention: towards more comprehensive cognitive translation using mouse models of Alzheimer’s disease. Brain Res Bull. 2013;92:49–55.
Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Penagarikano O, et al. Clustering autism: Using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Mol Psychiatry. 2015;20:118–1125.
Aoki Y, Nihori T, Inoue S, Matsubara Y. Recent advances in RASopathies. J Hum Genet. 2016;61:33–9.
Yap YS, McPherson JR, Ong CK, Rozen SG, Teh BT, Lee ASG, Callen DF. The NF1 gene revisited- from bench to bedside. Oncotarget. 2014;5:5873–92.
Helfferich J, Nijmeijer R, Brouwer OF, Boon M, Fock A, Hoving EW, Meijer L, den Dunnen WF, de Bont ESJM. Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas. Crit Rev Oncol Hematol. 2016;104:30–41.
Chacko EM, Rapaport R. Short stature and its treatment in Turner and Noonan syndromes. Curr Op Endocrinol Diabetes Obes. 2012;19:40–6.
Bhambhani V, Muenke M. Noonan Syndrome. Am Fam Physician. 2014;89:37–43.
Bondy CA, Group TTSCS. Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92:10–25.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007;39(8):1007–12.
Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet. 2006;79(1):129–35.
Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005;47(1):35–8.
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog‐Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009;8(3):275–82.
Zinn AR, Page DC, Fisher EM. Turner syndrome: the case of the missing sex chromosome. Trends Genet. 1993;9(3):90–3.
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