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Items: 1 to 20 of 239

1.

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P.

Nat Genet. 1996 Aug;13(4):458-60.

PMID:
8696341
2.

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 10;91(4):313-7.

PMID:
10766989
3.

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S.

J Med Genet. 2000 Jan;37(1):33-7. Review.

4.

DiGeorge anomaly and chromosome 10p deletions: one or two loci?

Dasouki M, Jurecic V, Phillips JA 3rd, Whitlock JA, Baldini A.

Am J Med Genet. 1997 Nov 28;73(1):72-5.

PMID:
9375926
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, et al.

Hum Genet. 1995 Aug;96(2):133-41.

PMID:
7635459
6.

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 15;117A(1):1-5.

PMID:
12548732
7.

A common molecular basis for rearrangement disorders on chromosome 22q11.

Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE.

Hum Mol Genet. 1999 Jul;8(7):1157-67.

PMID:
10369860
8.

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

Demczuk S, Aurias A.

Ann Genet. 1995;38(2):59-76. Review.

PMID:
7486827
9.

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR.

Clin Genet. 2004 Aug;66(2):128-36.

PMID:
15253763
10.

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.

Saint-Jore B, Puech A, Heyer J, Lin Q, Raine C, Kucherlapati R, Skoultchi AI.

Hum Mol Genet. 1998 Nov;7(12):1841-9.

PMID:
9811927
11.

Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.

D'Antoni S, Mattina T, Di Mare P, Federico C, Motta S, Saccone S.

Gene. 2004 May 26;333:111-9.

PMID:
15177686
12.

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A.

Genomics. 1993 Aug;17(2):403-7.

PMID:
8406492
13.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.

Eur J Hum Genet. 1998 May-Jun;6(3):213-25.

14.

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 27;56(2):191-7.

PMID:
7625444
15.

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

Holmes SE, Riazi MA, Gong W, McDermid HE, Sellinger BT, Hua A, Chen F, Wang Z, Zhang G, Roe B, Gonzalez I, McDonald-McGinn DM, Zackai E, Emanuel BS, Budarf ML.

Hum Mol Genet. 1997 Mar;6(3):357-67.

PMID:
9147638
16.

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ.

Am J Med Genet. 1993 Feb 1;45(3):308-12.

PMID:
8434616
17.

DiGeorge syndrome and partial monosomy 10p: case report and review.

Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.

Ann Genet. 1995;38(3):162-7. Review.

PMID:
8540688
18.

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. doi: 10.1016/j.ajhg.2007.09.014.

19.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A.

Am J Med Genet. 1999 Sep 3;86(1):27-33.

PMID:
10440825
20.

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, et al.

Am J Hum Genet. 1992 Nov;51(5):964-70.

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