151 related articles for article (PubMed ID: 20425836)
1. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.
Schluth-Bolard C; Sanlaville D; Labalme A; Till M; Morin I; Touraine R; Edery P
Am J Med Genet A; 2010 May; 152A(5):1278-82. PubMed ID: 20425836
[TBL] [Abstract][Full Text] [Related]
2. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Krepischi-Santos AC; Rajan D; Temple IK; Shrubb V; Crolla JA; Huang S; Beal S; Otto PA; Carter NP; Vianna-Morgante AM; Rosenberg C
Cytogenet Genome Res; 2009; 125(1):1-7. PubMed ID: 19617690
[TBL] [Abstract][Full Text] [Related]
3. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
[TBL] [Abstract][Full Text] [Related]
4. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects.
Chen CP; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
Taiwan J Obstet Gynecol; 2021 Mar; 60(2):341-344. PubMed ID: 33678339
[TBL] [Abstract][Full Text] [Related]
5. Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.
Østergaard JR; Graakjær J; Brandt C; Birkebæk NH
Eur J Med Genet; 2012 Jan; 55(1):22-6. PubMed ID: 22085993
[TBL] [Abstract][Full Text] [Related]
6. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
[TBL] [Abstract][Full Text] [Related]
7. Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
Walter S; Sandig K; Hinkel GK; Mitulla B; Ounap K; Sims G; Sitska M; Utermann B; Viertel P; Kalscheuer V; Bartsch O
Am J Med Genet A; 2004 Aug; 128A(4):364-73. PubMed ID: 15264281
[TBL] [Abstract][Full Text] [Related]
8. 17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
Coutton C; Devillard F; Vieville G; Amblard F; Lopez G; Jouk PS; Satre V
Am J Med Genet A; 2012 Oct; 158A(10):2564-70. PubMed ID: 22903743
[TBL] [Abstract][Full Text] [Related]
9. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
Zheng Z; Yao RE; Geng J; Jin X; Shen Y; Ying D; Fu Q; Yu Y
Gene; 2013 Mar; 516(2):301-6. PubMed ID: 23296059
[TBL] [Abstract][Full Text] [Related]
10. [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
Wang H; Feng Z; Yang K; Gao Y; Huo X; Qin L; Lou G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):695-698. PubMed ID: 28981936
[TBL] [Abstract][Full Text] [Related]
11. A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability.
He C; Dong C; Li J; Hu D; Yao L; Wu Y
Cytogenet Genome Res; 2016; 148(4):262-7. PubMed ID: 27164845
[TBL] [Abstract][Full Text] [Related]
12. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
Schwemmle C; Rost I; Spranger S; Jungheim M; Ptok M
Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1190-3. PubMed ID: 24814572
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.
Chen CP; Ko TM; Wang LK; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):128-132. PubMed ID: 29458882
[TBL] [Abstract][Full Text] [Related]
14. 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.
Belligni EF; Di Gregorio E; Biamino E; Calcia A; Molinatto C; Talarico F; Ferrero GB; Brusco A; Silengo MC
Eur J Med Genet; 2012 Mar; 55(3):222-4. PubMed ID: 22365944
[TBL] [Abstract][Full Text] [Related]
15. Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
Zeesman S; Kjaergaard S; Hove HD; Kirchhoff M; Stevens JM; Nowaczyk MJ
Am J Med Genet A; 2012 Aug; 158A(8):1832-6. PubMed ID: 22753084
[TBL] [Abstract][Full Text] [Related]
16. A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
Komoike Y; Shimojima K; Liang JS; Fujii H; Maegaki Y; Osawa M; Fujii S; Higashinakagawa T; Yamamoto T
J Hum Genet; 2010 Mar; 55(3):155-62. PubMed ID: 20111057
[TBL] [Abstract][Full Text] [Related]
17. 17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.
Giordano L; Palestra F; Giuffrida MG; Molinaro A; Iodice A; Bernardini L; La Boria P; Accorsi P; Novelli A
Am J Med Genet A; 2014 Jan; 164A(1):225-30. PubMed ID: 24501763
[TBL] [Abstract][Full Text] [Related]
18. Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.
Jorge R; Silva C; Águeda S; Dória S; Leão M
Am J Med Genet A; 2015 Nov; 167A(11):2839-43. PubMed ID: 26338046
[TBL] [Abstract][Full Text] [Related]
19. Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T; Lundin J; Anderlid BM; Gorski JL; Grigelioniene G; Knight SJ; Krepischi AC; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Eur J Hum Genet; 2013 Oct; 21(10):1085-92. PubMed ID: 23361222
[TBL] [Abstract][Full Text] [Related]
20. A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Upadhyaya M; Roberts SH; Maynard J; Sorour E; Thompson PW; Vaughan M; Wilkie AO; Hughes HE
J Med Genet; 1996 Feb; 33(2):148-52. PubMed ID: 8929953
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
