159 related articles for article (PubMed ID: 17632781)
1. A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Nowakowska B; Kutkowska-Kaźmierczak A; Stankiewicz P; Bocian E; Obersztyn E; Ou Z; Cheung SW; Cai WW
Am J Med Genet A; 2007 Aug; 143A(16):1885-9. PubMed ID: 17632781
[TBL] [Abstract][Full Text] [Related]
2. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Muller EA; Aradhya S; Atkin JF; Carmany EP; Elliott AM; Chudley AE; Clark RD; Everman DB; Garner S; Hall BD; Herman GE; Kivuva E; Ramanathan S; Stevenson DA; Stockton DW; Hudgins L
Am J Med Genet A; 2012 Feb; 158A(2):391-9. PubMed ID: 22190277
[TBL] [Abstract][Full Text] [Related]
3. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Yamamoto K; Yoshihashi H; Furuya N; Adachi M; Ito S; Tanaka Y; Masuno M; Chiyo H; Kurosawa K
Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
[TBL] [Abstract][Full Text] [Related]
4. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
Chen CP; Lin SP; Wang TH; Chen YJ; Chen M; Wang W
Prenat Diagn; 2006 Aug; 26(8):725-9. PubMed ID: 16927391
[TBL] [Abstract][Full Text] [Related]
5. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
Olivieri C; Maraschio P; Caselli D; Martini C; Beluffi G; Maserati E; Danesino C
Eur J Pediatr; 2003 Feb; 162(2):100-3. PubMed ID: 12548386
[TBL] [Abstract][Full Text] [Related]
6. 9q22 Deletion--first familial case.
Siggberg L; Peippo M; Sipponen M; Miikkulainen T; Shimojima K; Yamamoto T; Ignatius J; Knuutila S
Orphanet J Rare Dis; 2011 Jun; 6():45. PubMed ID: 21693067
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Garavelli L; Piemontese MR; Cavazza A; Rosato S; Wischmeijer A; Gelmini C; Albertini E; Albertini G; Forzano F; Franchi F; Carella M; Zelante L; Superti-Furga A
Am J Med Genet A; 2013 Nov; 161A(11):2894-901. PubMed ID: 24124115
[TBL] [Abstract][Full Text] [Related]
9. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
Boonen SE; Stahl D; Kreiborg S; Rosenberg T; Kalscheuer V; Larsen LA; Tommerup N; Brøndum-Nielsen K; Tümer Z
Am J Med Genet A; 2005 Jan; 132A(3):324-8. PubMed ID: 15690381
[TBL] [Abstract][Full Text] [Related]
10. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
Aradhya S; Manning MA; Splendore A; Cherry AM
Am J Med Genet A; 2007 Jul; 143A(13):1431-41. PubMed ID: 17568414
[TBL] [Abstract][Full Text] [Related]
11. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.
Hayashi S; Kurosawa K; Imoto I; Mizutani S; Inazawa J
Am J Med Genet A; 2005 Nov; 139(1):32-6. PubMed ID: 16222686
[TBL] [Abstract][Full Text] [Related]
12. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Midro AT; Panasiuk B; Tümer Z; Stankiewicz P; Silahtaroglu A; Lupski JR; Zemanova Z; Stasiewicz-Jarocka B; Hubert E; Tarasów E; Famulski W; Zadrozna-Tołwińska B; Wasilewska E; Kirchhoff M; Kalscheuer V; Michalova K; Tommerup N
Am J Med Genet A; 2004 Jan; 124A(2):179-91. PubMed ID: 14699618
[TBL] [Abstract][Full Text] [Related]
13. Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B; Prada E; Tolva G; Scuvera G; Silipigni R; Graziani D; Bulfamante G; Gervasini C; Marchisio P; Milani D
Mol Genet Genomic Med; 2020 Jan; 8(1):e987. PubMed ID: 31578813
[TBL] [Abstract][Full Text] [Related]
14. Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
Nowakowska B; Stankiewicz P; Obersztyn E; Ou Z; Li J; Chinault AC; Smyk M; Borg K; Mazurczak T; Cheung SW; Bocian E
Am J Med Genet A; 2008 Sep; 146A(18):2361-9. PubMed ID: 18698622
[TBL] [Abstract][Full Text] [Related]
15. Clinical features of microdeletion 9q22.3 (pat).
Shimojima K; Adachi M; Tanaka M; Tanaka Y; Kurosawa K; Yamamoto T
Clin Genet; 2009 Apr; 75(4):384-93. PubMed ID: 19320658
[TBL] [Abstract][Full Text] [Related]
16. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
[TBL] [Abstract][Full Text] [Related]
17. Array-based comparative genome hybridization in clinical genetics.
Bar-Shira A; Rosner G; Rosner S; Goldstein M; Orr-Urtreger A
Pediatr Res; 2006 Sep; 60(3):353-8. PubMed ID: 16857771
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
de Ravel TJ; Ameye L; Ballon K; Borghgraef M; Vermeesch JR; Devriendt K
Eur J Med Genet; 2009; 52(2-3):145-7. PubMed ID: 19233320
[TBL] [Abstract][Full Text] [Related]
20. Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
Musani V; Cretnik M; Situm M; Basta-Juzbasic A; Levanat S
Dermatology; 2009; 219(2):111-8. PubMed ID: 19439922
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
