180 related articles for article (PubMed ID: 22052655)
1. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
Sofos E; Pescosolido MF; Quintos JB; Abuelo D; Gunn S; Hovanes K; Morrow EM; Shur N
Am J Med Genet A; 2012 Jan; 158A(1):50-8. PubMed ID: 22052655
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
4. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
[TBL] [Abstract][Full Text] [Related]
7. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.
Tyson C; Harvard C; Locker R; Friedman JM; Langlois S; Lewis ME; Van Allen M; Somerville M; Arbour L; Clarke L; McGilivray B; Yong SL; Siegel-Bartel J; Rajcan-Separovic E
Am J Med Genet A; 2005 Dec; 139(3):173-85. PubMed ID: 16283669
[TBL] [Abstract][Full Text] [Related]
8. Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
Karavitakis E; Kitsiou-Tzeli S; Xaidara A; Kosma K; Makrythanasis P; Apazidou E; Kanavakis E; Tzetis M
Am J Med Genet A; 2014 Mar; 164A(3):666-70. PubMed ID: 24375959
[TBL] [Abstract][Full Text] [Related]
9. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
[TBL] [Abstract][Full Text] [Related]
10. Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
Houcinat N; Llanas B; Moutton S; Toutain J; Cailley D; Arveiler B; Combe C; Lacombe D; Rooryck C
Am J Med Genet A; 2015 Nov; 167A(11):2714-9. PubMed ID: 26114937
[TBL] [Abstract][Full Text] [Related]
11. A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Landais E; Leroy C; Kleinfinger P; Brunet S; Koubi V; Pietrement C; Poli-Mérol ML; Fiquet C; Souchon PF; Beri M; Jonveaux P; Garnotel R; Gaillard D; Doco-Fenzy M
Am J Med Genet A; 2015 Jun; 167(6):1275-84. PubMed ID: 25900228
[TBL] [Abstract][Full Text] [Related]
12. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Andersen EF; Baldwin EE; Ellingwood S; Smith R; Lamb AN
Am J Med Genet A; 2014 Jul; 164A(7):1795-801. PubMed ID: 24700761
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.
Harbuz R; Bilan F; Couet D; Charraud V; Kitzis A; Gilbert-Dussardier B
Am J Med Genet A; 2013 Oct; 161A(10):2504-11. PubMed ID: 23949819
[TBL] [Abstract][Full Text] [Related]
16. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
South ST; Whitby H; Maxwell T; Aston E; Brothman AR; Carey JC
Am J Med Genet A; 2008 Oct; 146A(20):2691-7. PubMed ID: 18798325
[TBL] [Abstract][Full Text] [Related]
17. [Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion].
Li C; Hou R; Liu C; Li LJ; Lyu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct; 36(10):989-992. PubMed ID: 31598942
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
[TBL] [Abstract][Full Text] [Related]
19. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
Schönewolf-Greulich B; Ravn K; Hamborg-Petersen B; Brøndum-Nielsen K; Tümer Z
Am J Med Genet A; 2013 Sep; 161A(9):2358-62. PubMed ID: 23894085
[TBL] [Abstract][Full Text] [Related]
20. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
