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Items: 1 to 20 of 46

1.

Velocardiofacial syndrome with a rare t(2;22).

Huber J, Rainho CA, Gomes MV, Santos SA, Ramos ES.

Clin Dysmorphol. 2007 Jul;16(3):181-3.

PMID:
17551333
2.

Variable phenotype and associations in chromosome 22q11.2 microdeletion.

Derbent M, Bikmaz YE, Yilmaz Z, Tokel K.

Am J Med Genet A. 2006 Mar 15;140(6):659-60. No abstract available.

PMID:
16470688
3.

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A.

Clin Genet. 2005 Oct;68(4):373-8.

PMID:
16143025
4.

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M.

J Med Genet. 2005 Nov;42(11):871-6. Epub 2005 Apr 14.

5.

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE.

Am J Hum Genet. 2005 May;76(5):865-76. Epub 2005 Mar 30.

6.

Isochromosome 22 in trisomy 22 mosaic with five cell lines.

Guzé C, Qin N, Kelly J, Yang X, Bruni R, Baker D, Hassan R.

Am J Med Genet A. 2004 Jan 1;124A(1):79-84.

PMID:
14679591
7.

Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome).

Digilio MC, Giannotti A, Dallapiccola B, Marino B.

Clin Genet. 2003 Nov;64(5):447-8. No abstract available.

PMID:
14616771
8.

Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2).

Bovie C, Holden ST, Schroer A, Smith E, Trump D, Raymond FL.

J Med Genet. 2003 Sep;40(9):682-4. No abstract available.

9.

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE.

Hum Mol Genet. 2003 Aug 1;12(15):1823-37.

10.

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Mühlendyck H, Bartels I, Zoll B.

J Med Genet. 2003 May;40(5):e62. Review. No abstract available.

11.

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.

Smith A, St Heaps L, Robson L.

Am J Med Genet. 2002 Dec 15;113(4):346-50.

PMID:
12457406
12.

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis.

Singh SM, Murphy B, O'Reilly R.

J Med Genet. 2002 Nov;39(11):e71. Review. No abstract available.

13.

A novel atypical 22q11.2 distal deletion in father and son.

Garcia-Miñaur S, Fantes J, Murray RS, Porteous ME, Strain L, Burns JE, Stephen J, Warner JP.

J Med Genet. 2002 Oct;39(10):E62. No abstract available.

14.

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

Sandrin-Garcia P, Macedo C, Martelli LR, Ramos ES, Guion-Almeida ML, Richieri-Costa A, Passos GA.

Clin Genet. 2002 May;61(5):380-3.

PMID:
12081724
16.

Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).

Tharapel AT, Kadandale JS, Martens PR, Wachtel SS, Wilroy RS Jr.

Am J Med Genet. 2002 Jan 15;107(2):119-22.

PMID:
11807885
17.

The 22q11.2 deletion: from diversity to a single gene theory.

De Decker HP, Lawrenson JB.

Genet Med. 2001 Jan-Feb;3(1):2-5. Review.

PMID:
11339372
18.

Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.

Fokstuen S, Vrticka K, Riegel M, Da Silva V, Baumer A, Schinzel A.

Eur J Pediatr. 2001 Jan;160(1):54-7.

PMID:
11195019
19.

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2.

Aricò M, Bettinelli A, Maccario R, Clementi R, Bossi G, Danesino C.

Am J Med Genet. 1999 Dec 3;87(4):329-30.

PMID:
10588839
20.

Microdeletion 22q11.2: clinical data and deletion size.

Kerstjens-Frederikse WS, Kurahashi H, Driscoll DA, Budarf ML, Emanuel BS, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, Teshima I.

J Med Genet. 1999 Sep;36(9):721-3. No abstract available.

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