160 related articles for article (PubMed ID: 32005695)
1. ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C; Brown J; Horsley SW; Slater J; Maifoshie E; Kumar S; Ooijevaar P; Kriek M; Dixon-McIver A; Harteveld CL; Traeger-Synodinos J; Wilkie AOM; Higgs DR; Buckle VJ
J Med Genet; 2020 Jun; 57(6):414-421. PubMed ID: 32005695
[TBL] [Abstract][Full Text] [Related]
2. Refinement of the genetic cause of ATR-16.
Harteveld CL; Kriek M; Bijlsma EK; Erjavec Z; Balak D; Phylipsen M; Voskamp A; di Capua E; White SJ; Giordano PC
Hum Genet; 2007 Nov; 122(3-4):283-92. PubMed ID: 17598130
[TBL] [Abstract][Full Text] [Related]
3. Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Scheps KG; Francipane L; Nevado J; Basack N; Attie M; Bergonzi MF; Cerrone GE; Lapunzina P; Varela V
Am J Med Genet A; 2016 Apr; 170A(4):986-91. PubMed ID: 26753516
[TBL] [Abstract][Full Text] [Related]
4. Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.
Gibson WT; Harvard C; Qiao Y; Somerville MJ; Lewis ME; Rajcan-Separovic E
Am J Med Genet A; 2008 Jan; 146A(2):225-32. PubMed ID: 18076105
[TBL] [Abstract][Full Text] [Related]
5. A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
Akahoshi K; Ohashi H; Hattori Y; Saitoh S; Fukushima Y; Wada T
Am J Med Genet A; 2005 Feb; 132A(4):414-8. PubMed ID: 15633166
[TBL] [Abstract][Full Text] [Related]
6. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
Lamb J; Harris PC; Wilkie AO; Wood WG; Dauwerse JG; Higgs DR
Am J Hum Genet; 1993 Apr; 52(4):668-76. PubMed ID: 8460633
[TBL] [Abstract][Full Text] [Related]
7. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
[TBL] [Abstract][Full Text] [Related]
8. The alpha-thalassemia/mental retardation syndromes.
Gibbons RJ; Higgs DR
Medicine (Baltimore); 1996 Mar; 75(2):45-52. PubMed ID: 8606626
[TBL] [Abstract][Full Text] [Related]
9. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels RJ; Peden JF; Lloyd C; Horsley SW; Clark K; Tufarelli C; Kearney L; Buckle VJ; Doggett NA; Flint J; Higgs DR
Hum Mol Genet; 2001 Feb; 10(4):339-52. PubMed ID: 11157797
[TBL] [Abstract][Full Text] [Related]
10. Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Õiglane-Shlik E; Puusepp S; Talvik I; Vaher U; Rein R; Tammur P; Reimand T; Teek R; Žilina O; Tomberg T; Õunap K
Eur J Paediatr Neurol; 2014 May; 18(3):338-46. PubMed ID: 24529875
[TBL] [Abstract][Full Text] [Related]
11. Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.
Cox DM; Butler MG
Cytogenet Genome Res; 2015; 145(1):29-34. PubMed ID: 25871641
[TBL] [Abstract][Full Text] [Related]
12. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Moreno-De-Luca A; Evans DW; Boomer KB; Hanson E; Bernier R; Goin-Kochel RP; Myers SM; Challman TD; Moreno-De-Luca D; Slane MM; Hare AE; Chung WK; Spiro JE; Faucett WA; Martin CL; Ledbetter DH
JAMA Psychiatry; 2015 Feb; 72(2):119-26. PubMed ID: 25493922
[TBL] [Abstract][Full Text] [Related]
13. A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
Jensen M; Kooy RF; Simon TJ; Reyniers E; Girirajan S; Tassone F
Eur J Med Genet; 2018 Apr; 61(4):209-212. PubMed ID: 29191496
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.
Qiu Y; Arbogast T; Lorenzo SM; Li H; Tang SC; Richardson E; Hong O; Cho S; Shanta O; Pang T; Corsello C; Deutsch CK; Chevalier C; Davis EE; Iakoucheva LM; Herault Y; Katsanis N; Messer K; Sebat J
Cell Rep; 2019 Sep; 28(13):3320-3328.e4. PubMed ID: 31553903
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S; Maitz S; Crosti F; Sala E; Villa N; Spaccini L; Selicorni A; Rigoldi M; Conconi D; Dalprà L; Roversi G; Bentivegna A
Int J Mol Sci; 2019 Mar; 20(5):. PubMed ID: 30836598
[TBL] [Abstract][Full Text] [Related]
18. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
[TBL] [Abstract][Full Text] [Related]
19. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Handrigan GR; Chitayat D; Lionel AC; Pinsk M; Vaags AK; Marshall CR; Dyack S; Escobar LF; Fernandez BA; Stegman JC; Rosenfeld JA; Shaffer LG; Goodenberger M; Hodge JC; Cain JE; Babul-Hirji R; Stavropoulos DJ; Yiu V; Scherer SW; Rosenblum ND
J Med Genet; 2013 Mar; 50(3):163-73. PubMed ID: 23335808
[TBL] [Abstract][Full Text] [Related]
20. The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.
Gimeno-Ferrer F; Albuquerque D; Guzmán Luján C; Marcaida Benito G; Torreira Banzas C; Repáraz-Andrade A; Ballesteros Cogollos V; Aleu Pérez-Gramunt M; Galán Gómez E; Quintela I; Rodríguez-López R
J Hum Genet; 2019 Mar; 64(3):221-231. PubMed ID: 30518945
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
