175 related articles for article (PubMed ID: 20949503)
1. Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
Dundar M; Kiraz A; Tasdemir S; Akalin H; Kurtoglu S; Hafo F; Cine N; Savli H
Am J Med Genet A; 2010 Nov; 152A(11):2791-5. PubMed ID: 20949503
[TBL] [Abstract][Full Text] [Related]
2. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
Jaquez M; Driscoll DA; Li M; Emanuel BS; Hernandez I; Jaquez F; Lembert N; Ramirez J; Matalon R
Am J Med Genet; 1997 May; 70(1):6-10. PubMed ID: 9129733
[TBL] [Abstract][Full Text] [Related]
3. De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.
Vittas S; Efstathiou G; Tsakalidis C; Malamaki C; Antari V; Chatzitoliou E; Chatziioannidis I; Galli-Tsinopoulou A; Soubasi V
Cytogenet Genome Res; 2019; 158(1):32-37. PubMed ID: 30799418
[TBL] [Abstract][Full Text] [Related]
4. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
Hou JW; Wang JK; Tsai WY; Chou CC; Wang TR
J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164
[TBL] [Abstract][Full Text] [Related]
5. Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay.
dos Santos AP; Vieira TP; Simioni M; Monteiro FP; Gil-da-Silva-Lopes VL
Gene; 2013 Jan; 513(2):301-4. PubMed ID: 23031812
[TBL] [Abstract][Full Text] [Related]
6. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
Balci S; Aypar E; Beksaç MS; Bartsch O
Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
[TBL] [Abstract][Full Text] [Related]
7. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Ben-Shachar S; Ou Z; Shaw CA; Belmont JW; Patel MS; Hummel M; Amato S; Tartaglia N; Berg J; Sutton VR; Lalani SR; Chinault AC; Cheung SW; Lupski JR; Patel A
Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
8. Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.
Salardaine Q; Marquet V; Bourthoumieu S; Dauriat B; Dobrescu A; Yardin C
Morphologie; 2019 Jun; 103(341 Pt 2):116-121. PubMed ID: 30885456
[TBL] [Abstract][Full Text] [Related]
9. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.
Bartsch O; Nemecková M; Kocárek E; Wagner A; Puchmajerová A; Poppe M; Ounap K; Goetz P
Am J Med Genet A; 2003 Feb; 117A(1):1-5. PubMed ID: 12548732
[TBL] [Abstract][Full Text] [Related]
10. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
Funke B; Edelmann L; McCain N; Pandita RK; Ferreira J; Merscher S; Zohouri M; Cannizzaro L; Shanske A; Morrow BE
Am J Hum Genet; 1999 Mar; 64(3):747-58. PubMed ID: 10053009
[TBL] [Abstract][Full Text] [Related]
11. Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22).
Komatsu H; Kihara A; Komura E; Mitsufuji N; Tsujii H; Kakita S; Ikuta H
Genet Couns; 2001; 12(2):137-43. PubMed ID: 11491308
[TBL] [Abstract][Full Text] [Related]
12. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
Portnoï MF; Lebas F; Gruchy N; Ardalan A; Biran-Mucignat V; Malan V; Finkel L; Roger G; Ducrocq S; Gold F; Taillemite JL; Marlin S
Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
[TBL] [Abstract][Full Text] [Related]
13. Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.
Elder DA; Kaiser-Rogers K; Aylsworth AS; Calikoglu AS
Am J Med Genet; 2001 Jun; 101(1):17-9. PubMed ID: 11343331
[TBL] [Abstract][Full Text] [Related]
14. Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
Kosaki R; Migita O; Takahashi T; Kosaki K
Am J Med Genet A; 2009 Feb; 149A(4):702-5. PubMed ID: 19288551
[TBL] [Abstract][Full Text] [Related]
15. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
Matsuoka R; Takao A; Kimura M; Imamura S; Kondo C; Joh-o K; Ikeda K; Nishibatake M; Ando M; Momma K
Am J Med Genet; 1994 Nov; 53(3):285-9. PubMed ID: 7856665
[TBL] [Abstract][Full Text] [Related]
16. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
Brunet A; Gabau E; Perich RM; Valdesoiro L; Brun C; Caballín MR; Guitart M
Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934
[TBL] [Abstract][Full Text] [Related]
17. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS
J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155
[TBL] [Abstract][Full Text] [Related]
18. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
Erickson RP; Díaz de Ståhl T; Bruder CE; Dumanski JP
Am J Med Genet A; 2007 Dec; 143A(24):3302-8. PubMed ID: 18000907
[TBL] [Abstract][Full Text] [Related]
19. Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).
Faed MJ; Robertson J; Beck JS; Cater JI; Bose B; Madlom MM
J Med Genet; 1987 Apr; 24(4):225-7. PubMed ID: 3585938
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]