204 related articles for article (PubMed ID: 24458984)
21. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
Quintela I; Gomez-Guerrero L; Fernandez-Prieto M; Resches M; Barros F; Carracedo A
Am J Med Genet A; 2015 Dec; 167A(12):3121-9. PubMed ID: 26332054
[TBL] [Abstract][Full Text] [Related]
22. A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.
Belengeanu V; Gamage TH; Farcas S; Stoian M; Andreescu N; Belengeanu A; Frengen E; Misceo D
Gene; 2014 Apr; 539(1):168-72. PubMed ID: 24508274
[TBL] [Abstract][Full Text] [Related]
23. Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
Osio D; Rankin J; Koillinen H; Reynolds A; Van Esch H
Am J Med Genet A; 2018 Jan; 176(1):209-213. PubMed ID: 29130599
[TBL] [Abstract][Full Text] [Related]
24. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
25. Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
Yokoyama E; Villarroel CE; Del Castillo V; Torres L; Sánchez S; Molina B; Avila S; Castrillo JL; Navarrete-Meneses P; Frías S
Am J Med Genet A; 2014 Mar; 164A(3):824-7. PubMed ID: 24357343
[No Abstract] [Full Text] [Related]
26. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Vegas N; Cavallin M; Kleefstra T; de Boer L; Philbert M; Maillard C; Boddaert N; Munnich A; Hubert L; Bery A; Besmond C; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):759-764. PubMed ID: 30268909
[TBL] [Abstract][Full Text] [Related]
27. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
Nimmakayalu M; Noble N; Horton VK; Willing M; Copeland S; Sheffield V; Nagy PL; Wassink T; Patil S; Shchelochkov OA
Am J Med Genet A; 2012 Nov; 158A(11):2767-74. PubMed ID: 23023937
[TBL] [Abstract][Full Text] [Related]
28. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
Sapey-Triomphe LA; Reversat J; Lesca G; Chatron N; Bussa M; Mazoyer S; Schmitz C; Sonié S; Edery P
Hum Genomics; 2020 Sep; 14(1):32. PubMed ID: 32948248
[TBL] [Abstract][Full Text] [Related]
29. Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
Palumbo O; Palumbo P; Delvecchio M; Palladino T; Stallone R; Crisetti M; Zelante L; Carella M
Am J Med Genet A; 2015 Feb; 167A(2):438-44. PubMed ID: 25428890
[TBL] [Abstract][Full Text] [Related]
30. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
Rocca MS; Fabretto A; Faletra F; Carlet O; Skabar A; Gasparini P; Pecile V
Gene; 2012 Jan; 492(1):315-8. PubMed ID: 22062632
[TBL] [Abstract][Full Text] [Related]
31. Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
[TBL] [Abstract][Full Text] [Related]
32. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
[TBL] [Abstract][Full Text] [Related]
33. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
[TBL] [Abstract][Full Text] [Related]
34. Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
Traylor RN; Dobyns WB; Rosenfeld JA; Wheeler P; Spence JE; Bandholz AM; Bawle EV; Carmany EP; Powell CM; Hudson B; Schultz RA; Shaffer LG; Ballif BC
Mol Syndromol; 2012 Sep; 3(3):102-112. PubMed ID: 23112752
[TBL] [Abstract][Full Text] [Related]
35. Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
Ponzi E; Asaro A; Orteschi D; Genuardi M; Zollino M; Gurrieri F
Eur J Med Genet; 2015 Aug; 58(8):400-5. PubMed ID: 26117585
[TBL] [Abstract][Full Text] [Related]
36. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
Schanze I; Schanze D; Bacino CA; Douzgou S; Kerr B; Zenker M
Eur J Med Genet; 2013 Feb; 56(2):108-13. PubMed ID: 23220431
[TBL] [Abstract][Full Text] [Related]
37. De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
Magri C; Piovani G; Pilotta A; Michele T; Buzi F; Barlati S
Eur J Med Genet; 2011; 54(3):361-4. PubMed ID: 21211576
[TBL] [Abstract][Full Text] [Related]
38. Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
Tassano E; Gamucci A; Celle ME; Ronchetto P; Cuoco C; Gimelli G
Cytogenet Genome Res; 2015; 146(1):39-43. PubMed ID: 26112959
[TBL] [Abstract][Full Text] [Related]
39. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Abdelhedi F; El Khattabi L; Essid N; Viot G; Letessier D; Lebbar A; Dupont JM
Am J Med Genet A; 2016 Jul; 170(7):1912-7. PubMed ID: 27119754
[TBL] [Abstract][Full Text] [Related]
40. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY; Argiropoulos B; Parboosingh JS; Micheil Innes A
Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
