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152 related items for PubMed ID: 38988293

  • 1. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
    Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z.
    Clin Genet; 2024 Nov; 106(5):574-584. PubMed ID: 38988293
    [Abstract] [Full Text] [Related]

  • 2. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
    Kloth K, Lozic B, Tagoe J, Hoffer MJV, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au PYB, Denecke J, Bijlsma EK, Lessel D.
    Neurogenetics; 2021 Oct; 22(4):263-269. PubMed ID: 34218362
    [Abstract] [Full Text] [Related]

  • 3. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
    Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M, Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel.
    Genes (Basel); 2024 Mar 28; 15(4):. PubMed ID: 38674358
    [Abstract] [Full Text] [Related]

  • 4. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
    Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M.
    J Med Genet; 2020 Oct 28; 57(10):717-724. PubMed ID: 32152250
    [Abstract] [Full Text] [Related]

  • 5. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
    Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N.
    Am J Hum Genet; 2021 Apr 01; 108(4):739-748. PubMed ID: 33711248
    [Abstract] [Full Text] [Related]

  • 6. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
    Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D.
    Eur J Med Genet; 2017 Sep 01; 60(9):494-498. PubMed ID: 28687526
    [Abstract] [Full Text] [Related]

  • 7. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
    Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.
    Genet Med; 2019 Sep 01; 21(9):2059-2069. PubMed ID: 30923367
    [Abstract] [Full Text] [Related]

  • 8. Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
    Fang X, Fee T, Davis J, Stolerman ES, Caylor RC.
    Cold Spring Harb Mol Case Stud; 2023 Jun 01; 9(3):. PubMed ID: 37263801
    [Abstract] [Full Text] [Related]

  • 9. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
    Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B.
    Genes (Basel); 2021 Aug 30; 12(9):. PubMed ID: 34573342
    [Abstract] [Full Text] [Related]

  • 10. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Aug 30; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 11. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
    Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.
    Genet Med; 2020 Mar 30; 22(3):524-537. PubMed ID: 31578471
    [Abstract] [Full Text] [Related]

  • 12. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K.
    Am J Hum Genet; 2020 Nov 05; 107(5):963-976. PubMed ID: 33157009
    [Abstract] [Full Text] [Related]

  • 13. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
    Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E.
    Genet Med; 2024 May 05; 26(5):101087. PubMed ID: 38288683
    [Abstract] [Full Text] [Related]

  • 14. Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
    McKenna B, Koomar T, Vervier K, Kremsreiter J, Michaelson JJ.
    Cold Spring Harb Mol Case Stud; 2018 Dec 05; 4(6):. PubMed ID: 30559312
    [Abstract] [Full Text] [Related]

  • 15. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA.
    Hum Mutat; 2020 May 05; 41(5):921-925. PubMed ID: 31999386
    [Abstract] [Full Text] [Related]

  • 16. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
    Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW.
    Clin Genet; 2024 Jun 05; 105(6):620-629. PubMed ID: 38356149
    [Abstract] [Full Text] [Related]

  • 17. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K, Brimble E, Poduri A.
    Epilepsia; 2024 May 05; 65(5):1428-1438. PubMed ID: 38470175
    [Abstract] [Full Text] [Related]

  • 18. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
    Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A.
    Epilepsia; 2018 Mar 05; 59(3):679-689. PubMed ID: 29377098
    [Abstract] [Full Text] [Related]

  • 19. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
    Gupta A, de Bruyn G, Tousseyn S, Krishnan B, Lagae L, Agarwal N, TSC Natural History Database Consortium.
    Pediatr Neurol; 2020 May 05; 106():10-16. PubMed ID: 32139167
    [Abstract] [Full Text] [Related]

  • 20. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
    Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.
    Genet Med; 2019 Aug 05; 21(8):1797-1807. PubMed ID: 30679821
    [Abstract] [Full Text] [Related]

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