162 related articles for article (PubMed ID: 9881184)
41. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
[TBL] [Abstract][Full Text] [Related]
42. De novo 10q22 interstitial deletion.
Cook L; Weaver DD; Hartsfield JK; Vance GH
J Med Genet; 1999 Jan; 36(1):71-2. PubMed ID: 9950372
[TBL] [Abstract][Full Text] [Related]
43. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
Mach M; Windpassinger C; Wagner K; Kroisel PM; Petek E
Genet Couns; 2007; 18(1):9-16. PubMed ID: 17515297
[TBL] [Abstract][Full Text] [Related]
44. Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the 'trisomy 1q42-->qter syndrome'.
Coccé MC; Villa O; Obregon MG; Salido M; Barreiro C; Solé F; Gallego MS
Cytogenet Genome Res; 2007; 118(1):84-6. PubMed ID: 17901705
[TBL] [Abstract][Full Text] [Related]
45. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.
Joyce CA; Dennis NR; Cooper S; Browne CE
Hum Genet; 2001 Oct; 109(4):440-51. PubMed ID: 11702226
[TBL] [Abstract][Full Text] [Related]
46. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
Popp S; Schulze B; Granzow M; Keller M; Holtgreve-Grez H; Schoell B; Brough M; Hager HD; Tariverdian G; Brown J; Kearney L; Jauch A
Hum Genet; 2002 Jul; 111(1):31-9. PubMed ID: 12136233
[TBL] [Abstract][Full Text] [Related]
47. A boy with small supernumerary marker chromosome X identified by FISH.
Koç A; Yirmibeş Karaoğuz M; Pala E; Kan D; Karaer K; Gücüyener K; Perçin EF
Genet Couns; 2007; 18(4):393-9. PubMed ID: 18286820
[TBL] [Abstract][Full Text] [Related]
48. A clinical syndrome associated with dup(5p).
Carnevale A; Hernández M; Limón-Toledo I; Frías S; Castillo J; Del Castillo V
Am J Med Genet; 1982 Nov; 13(3):277-83. PubMed ID: 7180873
[No Abstract] [Full Text] [Related]
49. "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
Zollino M; Wright TJ; Di Stefano C; Tosolini A; Battaglia A; Altherr MR; Neri G
Am J Med Genet; 1999 Feb; 82(5):371-5. PubMed ID: 10069706
[TBL] [Abstract][Full Text] [Related]
50. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
Dupont C; Pipiras E; Chantot-Bastaraud S; Verloes A; Baumann C; Wolf JP; Benzacken B
Eur J Hum Genet; 2003 Jun; 11(6):452-6. PubMed ID: 12774038
[TBL] [Abstract][Full Text] [Related]
51. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Delicado A; Lapunzina P; Palomares M; Molina MA; Galán E; López Pajares I
Eur J Med Genet; 2005; 48(2):159-66. PubMed ID: 16053907
[TBL] [Abstract][Full Text] [Related]
52. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
Mégarbané A; Gosset P; Souraty N; Lapierre JM; Korban R; Zahed L; Samaras L; Vekemans M; Prieur M
Am J Med Genet; 2001 Dec; 104(3):204-8. PubMed ID: 11754045
[TBL] [Abstract][Full Text] [Related]
53. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
Lukusa T; van den Berghe L; Smeets E; Fryns JP
Ann Genet; 1999; 42(4):215-20. PubMed ID: 10674161
[TBL] [Abstract][Full Text] [Related]
54. Norman-Roberts syndrome: clinical and molecular studies.
Iannetti P; Schwartz CE; Dietz-Band J; Light E; Timmerman J; Chessa L
Am J Med Genet; 1993 Aug; 47(1):95-9. PubMed ID: 8368261
[TBL] [Abstract][Full Text] [Related]
55. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
Rump P; Dijkhuizen T; Sikkema-Raddatz B; Lemmink HH; Vos YJ; Verheij JB; van Ravenswaaij CM
Clin Genet; 2008 Nov; 74(5):455-62. PubMed ID: 18651844
[TBL] [Abstract][Full Text] [Related]
56. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes.
Chen CP; Devriendt K; Chern SR; Lee CC; Wang W; Lin SP
Prenat Diagn; 2000 May; 20(5):384-9. PubMed ID: 10820405
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.
Kozma C; Blancato J; Meck J; Jiang Y
Am J Med Genet; 1998 Apr; 77(1):19-22. PubMed ID: 9557888
[TBL] [Abstract][Full Text] [Related]
59. Mother and son with deletion of 3p25-pter.
Tazelaar J; Roberson J; Van Dyke DL; Babu VR; Weiss L
Am J Med Genet; 1991 May; 39(2):130-2. PubMed ID: 2063913
[TBL] [Abstract][Full Text] [Related]
60. [Partial 11q monosomy and trigonocephaly. A new syndrome].
Turleau C; Chavin-Colin F; Roubin M; Thomas D; de Grouchy TJ
Ann Genet; 1975 Dec; 18(4):257-60. PubMed ID: 1083197
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
