These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

495 related articles for article (PubMed ID: 33985586)

  • 21. Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.
    AlMutiri R; Malta M; Shevell MI; Srour M
    Children (Basel); 2023 Feb; 10(3):. PubMed ID: 36979972
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
    Wang R; Lei T; Fu F; Li R; Jing X; Yang X; Liu J; Li D; Liao C
    Pediatr Neonatol; 2019 Feb; 60(1):35-42. PubMed ID: 29631977
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
    Di Gregorio E; Riberi E; Belligni EF; Biamino E; Spielmann M; Ala U; Calcia A; Bagnasco I; Carli D; Gai G; Giordano M; Guala A; Keller R; Mandrile G; Arduino C; Maffè A; Naretto VG; Sirchia F; Sorasio L; Ungari S; Zonta A; Zacchetti G; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Ferrero M; Brussino A; Savin E; Gandione M; Pelle A; Giachino DF; De Marchi M; Restagno G; Provero P; Cirillo Silengo M; Grosso E; Buxbaum JD; Pasini B; De Rubeis S; Brusco A; Ferrero GB
    Clin Genet; 2017 Oct; 92(4):415-422. PubMed ID: 28295210
    [TBL] [Abstract][Full Text] [Related]  

  • 24. SCN2A channelopathies: Mechanisms and models.
    Hedrich UBS; Lauxmann S; Lerche H
    Epilepsia; 2019 Dec; 60 Suppl 3():S68-S76. PubMed ID: 31904120
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Application of copy number variation sequencing in patients with intellectual disability/developmental delay and autistic spectrum disorder].
    Lei J; Zhao G; Huang Y; Long M; Li W; Deng X; Xiu Z; Xiao Y; Zeng S; Zhang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):308-316. PubMed ID: 36854406
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Application of apparent diffusion coefficient in children aged 2-12 years with intellectual disability/global developmental delay who have normal conventional brain MRI findings].
    Li L; Zhao JS; Gao ZF; Ma CY; Dong CH; Zhang HW
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Jun; 21(6):541-546. PubMed ID: 31208506
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Diagnostic Yield of Intellectual Disability Gene Panels.
    Pekeles H; Accogli A; Boudrahem-Addour N; Russell L; Parente F; Srour M
    Pediatr Neurol; 2019 Mar; 92():32-36. PubMed ID: 30581057
    [TBL] [Abstract][Full Text] [Related]  

  • 28. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
    Le Roux M; Barth M; Gueden S; Desbordes de Cepoy P; Aeby A; Vilain C; Hirsch E; de Saint Martin A; Portes VD; Lesca G; Riquet A; Chaton L; Villeneuve N; Villard L; Cances C; Valton L; Renaldo F; Vermersch AI; Altuzarra C; Nguyen-Morel MA; Van Gils J; Angelini C; Biraben A; Arnaud L; Riant F; Van Bogaert P
    Eur J Paediatr Neurol; 2021 Jul; 33():75-85. PubMed ID: 34102571
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier M; Coarelli G; Monin ML; Konop J; Davoine CS; Tesson C; Valter R; Anheim M; Behin A; Castelnovo G; Charles P; David A; Ewenczyk C; Fradin M; Goizet C; Hannequin D; Labauge P; Riant F; Sarda P; Sznajer Y; Tison F; Ullmann U; Van Maldergem L; Mochel F; Brice A; Stevanin G; Durr A;
    Brain; 2017 Jun; 140(6):1579-1594. PubMed ID: 28444220
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Comprehensive evaluation of the child with global developmental delays or intellectual disability.
    Aldosari AN; Aldosari TS
    Clin Exp Pediatr; 2024 Sep; 67(9):435-446. PubMed ID: 38810986
    [TBL] [Abstract][Full Text] [Related]  

  • 31. miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.
    Qiao Y; Badduke C; Mercier E; Lewis SM; Pavlidis P; Rajcan-Separovic E
    BMC Genomics; 2013 Aug; 14():544. PubMed ID: 23937676
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.
    Zhang W; Li D; Pang N; Jiang L; Li B; Ye F; He F; Chen S; Liu F; Peng J; Yin J; Yin F
    Front Pediatr; 2022; 10():911805. PubMed ID: 35935362
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children.
    Chen B; Zhan Y; Kessi M; Chen S; Xiong J; Deng X; Yang L; Peng J; Yin F; He F
    Front Mol Biosci; 2021; 8():792319. PubMed ID: 35036412
    [No Abstract]   [Full Text] [Related]  

  • 34. [Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay].
    Li Y; Lei D; Li C; Huang D; Tan J; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):648-654. PubMed ID: 37211997
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
    Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
    Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
    Duncan AR; Polovitskaya MM; Gaitán-Peñas H; Bertelli S; VanNoy GE; Grant PE; O'Donnell-Luria A; Valivullah Z; Lovgren AK; England EM; Agolini E; Madden JA; Schmitz-Abe K; Kritzer A; Hawley P; Novelli A; Alfieri P; Colafati GS; Wieczorek D; Platzer K; Luppe J; Koch-Hogrebe M; Abou Jamra R; Neira-Fresneda J; Lehman A; Boerkoel CF; Seath K; Clarke L; ; van Ierland Y; Argilli E; Sherr EH; Maiorana A; Diel T; Hempel M; Bierhals T; Estévez R; Jentsch TJ; Pusch M; Agrawal PB
    Am J Hum Genet; 2021 Aug; 108(8):1450-1465. PubMed ID: 34186028
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Current Practices in the Evaluation of Global Developmental Delay/Intellectual Disability: A Nationwide Survey of Child Neurologists.
    Cole JJ; Aravamuthan BR
    Neurol Clin Pract; 2023 Dec; 13(6):e200192. PubMed ID: 37795501
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
    Leite AJDC; Pinto IP; Leijsten N; Ruiterkamp-Versteeg M; Pfundt R; de Leeuw N; da Cruz AD; Minasi LB
    PLoS One; 2022; 17(4):e0266493. PubMed ID: 35390071
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.
    Tao X; Che Y; Li C; Ruan W; Xu J; Yu Y; Yang F; Wang J; Li H
    Cytogenet Genome Res; 2021; 161(10-11):514-519. PubMed ID: 34879376
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.