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Results: 1 to 20 of 493

1.

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ.

Am J Hum Genet. 1996 Apr;58(4):734-42.

PMID:
8644736
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.

Eur J Hum Genet. 2005 May;13(5):528-40.

PMID:
15852040
[PubMed - indexed for MEDLINE]
Free Article
3.

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.

Eur J Hum Genet. 2005 Apr;13(4):409-13.

PMID:
15702131
[PubMed - indexed for MEDLINE]
Free Article
4.

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.

Eur J Hum Genet. 2004 May;12(5):400-6. Review.

PMID:
14872200
[PubMed - indexed for MEDLINE]
Free Article
5.

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

Hall CR, Wu Y, Shaffer LG, Hecht JT.

Clin Genet. 2001 Nov;60(5):356-9.

PMID:
11903336
[PubMed - indexed for MEDLINE]
6.

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Potocki L, Shaffer LG.

Am J Med Genet. 1996 Mar 29;62(3):319-25. Review.

PMID:
8882796
[PubMed - indexed for MEDLINE]
7.

Burning down DEFECT11.

Wuyts W, Van Hul W, Bartsch O, Wilkie AO, Meinecke P.

Am J Med Genet. 2001 May 15;100(4):331-5. No abstract available.

PMID:
11343325
[PubMed - indexed for MEDLINE]
8.

Molecular and clinical examination of an Italian DEFECT11 family.

Wuyts W, Di Gennaro G, Bianco F, Wauters J, Morocutti C, Pierelli F, Bossuyt P, Van Hul W, Casali C.

Eur J Hum Genet. 1999 Jul;7(5):579-84.

PMID:
10439965
[PubMed - indexed for MEDLINE]
Free Article
9.

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.

Am J Med Genet. 2002 Dec 15;113(4):326-32.

PMID:
12457403
[PubMed - indexed for MEDLINE]
10.

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.

Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F.

Am J Med Genet. 1993 Mar 1;45(5):581-3.

PMID:
8456828
[PubMed - indexed for MEDLINE]
11.

Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

Tomkins DJ, Hunter AG, Uchida IA, Roberts MH.

Clin Genet. 1982 Dec;22(6):348-55.

PMID:
7160106
[PubMed - indexed for MEDLINE]
12.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.

Am J Hum Genet. 2000 Nov;67(5):1327-32. Epub 2000 Oct 3.

PMID:
11017806
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.

White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.

Am J Med Genet. 1995 Jul 17;57(4):588-97.

PMID:
7573135
[PubMed - indexed for MEDLINE]
14.

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L.

Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Review.

PMID:
20140962
[PubMed - indexed for MEDLINE]
15.

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

Romeike BF, Wuyts W.

Clin Neuropathol. 2007 Jan-Feb;26(1):1-11. Review.

PMID:
17290930
[PubMed - indexed for MEDLINE]
16.

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.

Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, Kawira EL, Bender HA.

Am J Med Genet. 1984 Feb;17(2):437-50.

PMID:
6199974
[PubMed - indexed for MEDLINE]
17.

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL.

Am J Med Genet A. 2004 Jun 1;127A(2):186-90.

PMID:
15108208
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

PMID:
9326330
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ.

Hum Mol Genet. 1994 Jan;3(1):167-71.

PMID:
8162019
[PubMed - indexed for MEDLINE]

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