157 related articles for article (PubMed ID: 8703114)
1. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.
Rizzu P; Lindsay EA; Taylor C; O'Donnell H; Levy A; Scambler P; Baldini A
Mamm Genome; 1996 Sep; 7(9):639-43. PubMed ID: 8703114
[TBL] [Abstract][Full Text] [Related]
2. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L).
Botta A; Tandoi C; Fini G; Calabrese G; Dallapiccola B; Novelli G
Gene; 2001 Sep; 275(1):39-46. PubMed ID: 11574150
[TBL] [Abstract][Full Text] [Related]
3. Genetic basis of DiGeorge and velocardiofacial syndromes.
Driscoll DA
Curr Opin Pediatr; 1994 Dec; 6(6):702-6. PubMed ID: 7849818
[TBL] [Abstract][Full Text] [Related]
4. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
Halford S; Wadey R; Roberts C; Daw SC; Whiting JA; O'Donnell H; Dunham I; Bentley D; Lindsay E; Baldini A
Hum Mol Genet; 1993 Dec; 2(12):2099-107. PubMed ID: 8111380
[TBL] [Abstract][Full Text] [Related]
5. Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183).
Mulder MP; Wilke M; Langeveld A; Wilming LG; Hagemeijer A; van Drunen E; Zwarthoff EC; Riegman PH; Deelen WH; van den Ouweland AM
Hum Genet; 1995 Aug; 96(2):133-41. PubMed ID: 7635459
[TBL] [Abstract][Full Text] [Related]
6. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.
Gong W; Emanuel BS; Galili N; Kim DH; Roe B; Driscoll DA; Budarf ML
Hum Mol Genet; 1997 Feb; 6(2):267-76. PubMed ID: 9063747
[TBL] [Abstract][Full Text] [Related]
7. The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia.
Stoffel M; Karayiorgou M; Espinosa R; Beau MM
Hum Genet; 1996 Jul; 98(1):113-5. PubMed ID: 8682495
[TBL] [Abstract][Full Text] [Related]
8. Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes.
Pragliola A; Jurecic V; Chau CK; Philip N; Baldini A
Am J Hum Genet; 1997 Dec; 61(6):1456-9. PubMed ID: 9399910
[No Abstract] [Full Text] [Related]
9. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
Chieffo C; Garvey N; Gong W; Roe B; Zhang G; Silver L; Emanuel BS; Budarf ML
Genomics; 1997 Aug; 43(3):267-77. PubMed ID: 9268629
[TBL] [Abstract][Full Text] [Related]
10. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
Scambler PJ; Kelly D; Lindsay E; Williamson R; Goldberg R; Shprintzen R; Wilson DI; Goodship JA; Cross IE; Burn J
Lancet; 1992 May; 339(8802):1138-9. PubMed ID: 1349369
[TBL] [Abstract][Full Text] [Related]
11. PCR assay for screening patients at risk for 22q11.2 deletion.
Driscoll DA; Emanuel BS; Mitchell LE; Budarf ML
Genet Test; 1997; 1(2):109-13. PubMed ID: 10464634
[TBL] [Abstract][Full Text] [Related]
12. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.
Gottlieb S; Hanes SD; Golden JA; Oakey RJ; Budarf ML
Hum Mol Genet; 1998 Sep; 7(9):1497-505. PubMed ID: 9700206
[TBL] [Abstract][Full Text] [Related]
13. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
Sergi C; Serpi M; Müller-Navia J; Schnabel PA; Hagl S; Otto HF; Ulmer HE
Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461
[TBL] [Abstract][Full Text] [Related]
14. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
Berti L; Mittler G; Przemeck GK; Stelzer G; Günzler B; Amati F; Conti E; Dallapiccola B; Hrabé de Angelis M; Novelli G; Meisterernst M
Genomics; 2001 Jun; 74(3):320-32. PubMed ID: 11414760
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.
Sirotkin H; Morrow B; Saint-Jore B; Puech A; Das Gupta R; Patanjali SR; Skoultchi A; Weissman SM; Kucherlapati R
Genomics; 1997 Jun; 42(2):245-51. PubMed ID: 9192844
[TBL] [Abstract][Full Text] [Related]
17. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
Lindsay EA; Greenberg F; Shaffer LG; Shapira SK; Scambler PJ; Baldini A
Am J Med Genet; 1995 Mar; 56(2):191-7. PubMed ID: 7625444
[TBL] [Abstract][Full Text] [Related]
18. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.
Funke B; Saint-Jore B; Puech A; Sirotkin H; Edelmann L; Carlson C; Raft S; Pandita RK; Kucherlapati R; Skoultchi A; Morrow BE
Genomics; 1997 Dec; 46(3):364-72. PubMed ID: 9441739
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Velocardiofacial syndrome and DiGeorge sequence.
Shprintzen RJ
J Med Genet; 1994 May; 31(5):423-4. PubMed ID: 8064827
[No Abstract] [Full Text] [Related]
[Next] [New Search]
