235 related articles for article (PubMed ID: 24838842)
1. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Fernández-Jaén A; Castellanos Mdel C; Fernández-Perrone AL; Fernández-Mayoralas DM; de la Vega AG; Calleja-Pérez B; Fernández EC; Albert J; Hombre MC
Am J Med Genet A; 2014 Aug; 164A(8):2043-7. PubMed ID: 24838842
[TBL] [Abstract][Full Text] [Related]
2. 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Tassano E; Uccella S; Giacomini T; Severino M; Siri L; Gherzi M; Celle ME; Porta S; Gimelli G; Ronchetto P
Eur J Med Genet; 2018 Aug; 61(8):428-433. PubMed ID: 29501613
[TBL] [Abstract][Full Text] [Related]
3. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F
Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.
Coyan AG; Dyer LM
Eur J Med Genet; 2020 Dec; 63(12):104083. PubMed ID: 33039685
[TBL] [Abstract][Full Text] [Related]
6. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
[TBL] [Abstract][Full Text] [Related]
7. Phenotype Heterogeneity in 3q29 Microduplication Syndrome.
Streata I; Riza AL; Sosoi S; Burada F; Ioana M
Curr Health Sci J; 2020; 46(2):193-197. PubMed ID: 32874693
[TBL] [Abstract][Full Text] [Related]
8. 3q29 interstitial microduplication: a new syndrome in a three-generation family.
Lisi EC; Hamosh A; Doheny KF; Squibb E; Jackson B; Galczynski R; Thomas GH; Batista DA
Am J Med Genet A; 2008 Mar; 146A(5):601-9. PubMed ID: 18241066
[TBL] [Abstract][Full Text] [Related]
9. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
Izumi K; Hahn A; Christ L; Curtis C; Neilson DE
Am J Med Genet A; 2011 Jun; 155A(6):1384-9. PubMed ID: 21567912
[TBL] [Abstract][Full Text] [Related]
10. 3q29 microduplication in a small family with complex metabolic phenotype from Southern Italy.
Vitale A; Labruna G; Mancini A; Alfieri A; Iaffaldano L; Nardelli C; Pasanisi F; Pastore L; Buono P; Lombardo B
Clin Chem Lab Med; 2018 Jun; 56(7):e167-e170. PubMed ID: 29306918
[No Abstract] [Full Text] [Related]
11. New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
Pollak RM; Zinsmeister MC; Murphy MM; Zwick ME; ; Mulle JG
Am J Med Genet A; 2020 May; 182(5):1152-1166. PubMed ID: 32154651
[TBL] [Abstract][Full Text] [Related]
12. 3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Bauleo A; Pace V; Montesanto A; De Stefano L; Brando R; Puntorieri D; Cento L; Genuardi M; Falcone E
Mol Genet Genomic Med; 2023 Apr; 11(4):e2130. PubMed ID: 36691815
[TBL] [Abstract][Full Text] [Related]
13. A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
Palumbo O; Palumbo P; Di Muro E; Cinque L; Petracca A; Carella M; Castori M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32604767
[TBL] [Abstract][Full Text] [Related]
14. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
Novara F; Alfei E; D'Arrigo S; Pantaleoni C; Beri S; Achille V; Sciacca FL; Giorda R; Zuffardi O; Ciccone R
Eur J Med Genet; 2013 Jan; 56(1):54-8. PubMed ID: 23085304
[TBL] [Abstract][Full Text] [Related]
15. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
16. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
[TBL] [Abstract][Full Text] [Related]
17. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
Kuroda Y; Ohashi I; Saito T; Nagai J; Ida K; Naruto T; Iai M; Kurosawa K
Am J Med Genet A; 2014 Aug; 164A(8):2104-8. PubMed ID: 24801133
[TBL] [Abstract][Full Text] [Related]
18. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Kashevarova AA; Nazarenko LP; Skryabin NA; Nikitina TV; Vasilyev SA; Tolmacheva EN; Lopatkina ME; Salyukova OA; Chechetkina NN; Vorotelyak EA; Kalabusheva EP; Fishman VS; Kzhyshkowska J; Graziano C; Magini P; Romeo G; Lebedev IN
Am J Med Genet A; 2018 Nov; 176(11):2395-2403. PubMed ID: 30244536
[TBL] [Abstract][Full Text] [Related]
19. Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.
Chen CP; Lin SP; Lee CL; Chern SR; Wu PS; Chen YN; Chen SW; Wang W
Taiwan J Obstet Gynecol; 2017 Feb; 56(1):98-101. PubMed ID: 28254236
[TBL] [Abstract][Full Text] [Related]
20. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
Ward DI; Buckley BA; Leon E; Diaz J; Galegos MF; Hofherr S; Lewanda AF
Am J Med Genet A; 2018 Mar; 176(3):551-559. PubMed ID: 29341460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
