231 related articles for article (PubMed ID: 9182777)
1. A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
Werner W; Kraft S; Callen DF; Bartsch O; Hinkel GK
Am J Med Genet; 1997 Jun; 70(4):371-6. PubMed ID: 9182777
[TBL] [Abstract][Full Text] [Related]
2. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
Sukumar S; Wang S; Hoang K; Vanchiere CM; England K; Fick R; Pagon B; Reddy KS
Am J Med Genet; 1999 Nov; 87(1):17-22. PubMed ID: 10528241
[TBL] [Abstract][Full Text] [Related]
3. Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
Monaghan KG; Van Dyke DL; Wiktor A; Feldman GL
Am J Med Genet; 1997 Dec; 73(2):180-3. PubMed ID: 9409869
[TBL] [Abstract][Full Text] [Related]
4. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.
Meng J; Fujita H; Nagahara N; Kashiwai A; Yoshioka Y; Funato M
Am J Med Genet; 1992 Jul; 43(4):747-50. PubMed ID: 1621768
[TBL] [Abstract][Full Text] [Related]
5. A new case of a severe clinical phenotype of the cat-eye syndrome.
Denavit TM; Malan V; Grillon C; Sanlaville D; Ardalan A; Jacquemont ML; Burglen L; Taillemite JL; Portnoi MF
Genet Couns; 2004; 15(4):443-8. PubMed ID: 15658620
[TBL] [Abstract][Full Text] [Related]
6. An emerging phenotype of proximal 11q deletions.
Melis D; Genesio R; Cozzolino M; Del Giudice E; Mormile A; Imperati F; Ronga V; Della Casa R; Nitsch L; Andria G
Eur J Med Genet; 2010; 53(5):340-3. PubMed ID: 20688202
[TBL] [Abstract][Full Text] [Related]
7. Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.
Luquet I; Favre B; Nadal N; Madinier N; Khau Van Kien P; Huet F; Nivelon-Chevallier A; Mugneret F
Ann Genet; 1999; 42(1):33-9. PubMed ID: 10214505
[TBL] [Abstract][Full Text] [Related]
8. Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
Mdzin R; Ko C; Abdul Latif Z; Zakaria Z
Singapore Med J; 2008 Nov; 49(11):e336-9. PubMed ID: 19037546
[TBL] [Abstract][Full Text] [Related]
9. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome.
Fujiwara M; Yoshimoto T; Morita Y; Kamada M
Am J Med Genet; 1992 Jun; 43(3):561-4. PubMed ID: 1605249
[TBL] [Abstract][Full Text] [Related]
10. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.
Kulharya AS; Michaelis RC; Norris KS; Taylor HA; Garcia-Heras J
Am J Med Genet; 1998 Jun; 77(5):391-4. PubMed ID: 9632168
[TBL] [Abstract][Full Text] [Related]
11. [Ophthalmologic findings in 11 q-deletion syndrome].
Bialasiewicz AA; Mayer UM; Meythaler FH
Klin Monbl Augenheilkd; 1987 Jun; 190(6):524-6. PubMed ID: 3626412
[TBL] [Abstract][Full Text] [Related]
12. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.
McMilin KD; Reiss JA; Brown MG; Black MH; Buckmaster DA; Durum CT; Gunter KA; Lawce HJ; Berry TL; Lamb OA; Olson CL; Weeks FF; Yoshitomi MJ; Jacky PB; Olson SB; Magenis RE
Am J Med Genet; 1998 Jun; 78(1):36-43. PubMed ID: 9637421
[TBL] [Abstract][Full Text] [Related]
13. A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.
Matheisel A; Babinska M; Wierzba J; Wozniak A; Nedoszytko B; Balcerska A; Limon J
Genet Couns; 2000; 11(3):267-71. PubMed ID: 11043435
[TBL] [Abstract][Full Text] [Related]
14. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG
Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
[TBL] [Abstract][Full Text] [Related]
15. Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21).
Holden JJ; MacDonald EA
Am J Med Genet; 1985 Feb; 20(2):245-8. PubMed ID: 2579554
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Rosias PR; Sijstermans JM; Theunissen PM; Pulles-Heintzberger CF; De Die-Smulders CE; Engelen JJ; Van Der Meer SB
Genet Couns; 2001; 12(3):273-82. PubMed ID: 11693792
[TBL] [Abstract][Full Text] [Related]
17. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
Takano T; Yamanouchi Y; Mori Y; Kudo S; Nakayama T; Sugiura M; Hashira S; Abe T
Am J Med Genet; 1997 Jan; 68(2):207-10. PubMed ID: 9028459
[TBL] [Abstract][Full Text] [Related]
18. Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
Magenis RE; Sheehy RR; Brown MG; McDermid HE; White BN; Zonana J; Weleber R
Am J Med Genet; 1988 Jan; 29(1):9-19. PubMed ID: 3344779
[TBL] [Abstract][Full Text] [Related]
19. Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
Piovani G; Borsani G; Bertini V; Kalscheuer VM; Viertel P; Bellotti D; Valseriati D; Barlati S
Eur J Med Genet; 2006; 49(3):215-23. PubMed ID: 16762823
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.
Lurie IW; Supovitz KR; Rosenblum-Vos LS; Wulfsberg EA
Genet Couns; 1994; 5(1):11-4. PubMed ID: 8031530
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
