284 related articles for article (PubMed ID: 12476454)
1. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
Gläser B; Rossier E; Barbi G; Chiaie LD; Blank C; Vogel W; Kehrer-Sawatzki H
Am J Med Genet A; 2003 Jan; 116A(1):66-70. PubMed ID: 12476454
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
Petek E; Windpassinger C; Simma B; Mueller T; Wagner K; Kroisel PM
J Hum Genet; 2003; 48(6):283-287. PubMed ID: 12836054
[TBL] [Abstract][Full Text] [Related]
3. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
Tzschach A; Krause-Plonka I; Menzel C; Knoblauch A; Toennies H; Hoeltzenbein M; Radke M; Ropers HH; Kalscheuer V
Am J Med Genet A; 2006 May; 140(10):1108-10. PubMed ID: 16619204
[TBL] [Abstract][Full Text] [Related]
4. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
Tzschach A; Krause-Plonka I; Menzel C; Kalscheuer V; Toennies H; Scherthan H; Knoblauch A; Radke M; Ropers HH; Hoeltzenbein M
Am J Med Genet A; 2006 Mar; 140(5):496-502. PubMed ID: 16470790
[TBL] [Abstract][Full Text] [Related]
5. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.
Garcia-Miñaur S; Ramsay J; Grace E; Minns RA; Myles LM; FitzPatrick DR
Am J Med Genet A; 2005 Feb; 132A(4):402-10. PubMed ID: 15742475
[TBL] [Abstract][Full Text] [Related]
6. A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.
Gimelli S; Makrythanasis P; Stouder C; Antonarakis SE; Bottani A; Béna F
Eur J Med Genet; 2011; 54(1):94-6. PubMed ID: 20933621
[TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
Wenger SL; Grossfeld PD; Siu BL; Coad JE; Keller FG; Hummel M
Am J Med Genet A; 2006 Apr; 140(7):704-8. PubMed ID: 16502431
[TBL] [Abstract][Full Text] [Related]
8. Case report: Y;6 translocation with deletion of 6p.
Klein OD; Backstrand K; Cotter PD; Marco E; Sherr E; Slavotinek A
Clin Dysmorphol; 2005 Apr; 14(2):93-96. PubMed ID: 15770132
[TBL] [Abstract][Full Text] [Related]
9. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
Rauen KA; Albertson DG; Pinkel D; Cotter PD
Am J Med Genet; 2002 Jun; 110(1):51-6. PubMed ID: 12116271
[TBL] [Abstract][Full Text] [Related]
10. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
Stockton DW; Ross HL; Bacino CA; Altman CA; Shaffer LG; Lupski JR
Am J Med Genet; 1997 Aug; 71(2):189-93. PubMed ID: 9217220
[TBL] [Abstract][Full Text] [Related]
11. Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.
Riegel M; Morava E; Czakó M; Kosztolányi G; Schinzel A
Am J Med Genet; 2001 Aug; 102(3):227-30. PubMed ID: 11484198
[TBL] [Abstract][Full Text] [Related]
12. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
Balci S; Engiz O; Aktaş D; Vargel I; Beksaç MS; Mrasek K; Vermeesch J; Liehr T
Am J Med Genet A; 2006 Mar; 140(6):628-32. PubMed ID: 16470698
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
Erdogan F; Ullmann R; Chen W; Schubert M; Adolph S; Hultschig C; Kalscheuer V; Ropers HH; Spaich C; Tzschach A
Am J Med Genet A; 2007 Jan; 143A(2):172-8. PubMed ID: 17163532
[TBL] [Abstract][Full Text] [Related]
14. An interstitial deletion of chromosome 7 at band q21: a case report and review.
Courtens W; Vermeulen S; Wuyts W; Messiaen L; Wauters J; Nuytinck L; Peeters N; Storm K; Speleman F; Nöthen MM
Am J Med Genet A; 2005 Apr; 134A(1):12-23. PubMed ID: 15732063
[TBL] [Abstract][Full Text] [Related]
15. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
Peltekova IT; Hurteau-Millar J; Armour CM
Am J Med Genet A; 2014 Dec; 164A(12):3132-6. PubMed ID: 25257335
[TBL] [Abstract][Full Text] [Related]
16. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
Chuang L; Wakui K; Sue WC; Su MH; Shaffer LG; Kuo PL
Am J Med Genet A; 2005 Mar; 133A(2):180-3. PubMed ID: 15666301
[TBL] [Abstract][Full Text] [Related]
17. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
Skrypnyk C; Goecke TO; Majewski F; Bartsch O
Am J Med Genet; 2002 Nov; 113(2):207-12. PubMed ID: 12407714
[TBL] [Abstract][Full Text] [Related]
18. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
Yamanishi T; Nishio J; Miya S; Okamoto N; Takahashi A; Toribe Y; Mukai T; Kobayashi C
Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
[TBL] [Abstract][Full Text] [Related]
19. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.
Gentile M; Di Carlo A; Volpe P; Pansini A; Nanna P; Valenzano MC; Buonadonna AL
Am J Med Genet A; 2003 Mar; 117A(3):251-4. PubMed ID: 12599188
[TBL] [Abstract][Full Text] [Related]
20. Phenotype-genotype correlation in two patients with 12q proximal deletion.
Miyake N; Tonoki H; Gallego M; Harada N; Shimokawa O; Yoshiura K; Ohta T; Kishino T; Niikawa N; Matsumoto N
J Hum Genet; 2004; 49(5):282-4. PubMed ID: 15362574
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
