Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 61

1.
2.

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. Review.

PMID:
10536461
3.

Velo-cardio-facial syndrome: a review of 120 patients.

Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ.

Am J Med Genet. 1993 Feb 1;45(3):313-9. Review.

PMID:
8434617
4.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
5.

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 15;137(1):47-51. Review.

PMID:
16007629
6.

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J.

Am J Med Genet. 1988 Nov;31(3):533-48. Review.

PMID:
3067575
7.

Velocardiofacial syndrome.

Pike AC, Super M.

Postgrad Med J. 1997 Dec;73(866):771-5. Review.

8.

Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome.

Keeling SL, Lee-Jones L, Thompson P.

Am J Med Genet. 2001 Mar 1;99(2):94-8. Review.

PMID:
11241465
9.
10.

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.

McLean SD, Saal HM, Spinner NB, Emanuel BS, Driscoll DA.

Am J Dis Child. 1993 Nov;147(11):1212-6. Review.

PMID:
8237917
11.

Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.

Goldmuntz E, Emanuel BS.

Circ Res. 1997 Apr;80(4):437-43. Review.

12.

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT.

Am J Med Genet A. 2005 Jul 1;136(1):38-44. Review.

PMID:
15937949
13.

Distal 5q deletion syndrome: phenotypic correlations.

Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S.

Am J Med Genet. 2001 Sep 15;103(1):63-8. Review.

PMID:
11562936
14.

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

Beall MH, Falk RE, Ying KL.

Am J Med Genet. 1988 Nov;31(3):553-7. Review.

PMID:
3067576
15.

4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.

Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F.

J Craniomaxillofac Surg. 2000 Jun;28(3):165-70. Review.

PMID:
10964553
16.

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.

Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P.

Am J Med Genet A. 2003 Apr 15;118A(2):122-6. Review.

PMID:
12655492
17.

[CATCH-22: a microdeletion of chromosome 22 behind the polymorphous syndrome].

Somer M, Ignatius J, Vehmanen P, Keinänen M, Haapanen ML.

Duodecim. 1997;113(12):1115-22. Review. Finnish. No abstract available.

PMID:
11466836
18.

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

Cuneo BF.

Curr Opin Pediatr. 2001 Oct;13(5):465-72. Review. Erratum in: Curr Opin Pediatr 2002 Apr;14(2):286.

PMID:
11801894
19.

Ectrodactyly and proximal/intermediate interstitial deletion 7q.

McElveen C, Carvajal MV, Moscatello D, Towner J, Lacassie Y.

Am J Med Genet. 1995 Mar 13;56(1):1-5. Review.

PMID:
7747769
20.

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, Carroll AJ.

Clin Genet. 1996 Dec;50(6):538-40. Review.

PMID:
9147894
Items per page

Supplemental Content

Write to the Help Desk