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Results: 19

1.

Deletion of chromosome 13 in Moebius syndrome.

Slee JJ, Smart RD, Viljoen DL.

J Med Genet. 1991 Jun;28(6):413-4.

PMID:
1870098
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Alagille syndrome and deletion of 20p.

Anad F, Burn J, Matthews D, Cross I, Davison BC, Mueller R, Sands M, Lillington DM, Eastham E.

J Med Genet. 1990 Dec;27(12):729-37. Review.

PMID:
2074558
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The partial monosomy 10q syndrome: report on two patients and review of the developmental data.

Schrander-Stumpel C, Fryns JP, Hamers G.

J Ment Defic Res. 1991 Jun;35 ( Pt 3):259-67. Review.

PMID:
1920392
[PubMed - indexed for MEDLINE]
4.

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

Bamforth JS, Lin CC.

Am J Med Genet. 1997 Dec 31;73(4):408-11. Review.

PMID:
9415466
[PubMed - indexed for MEDLINE]
5.

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.

Plomp AS, Schrander-Stumpel CT, Engelen JJ, Sijstermans JM, Loneus WH, Fryns JP.

Genet Couns. 1995;6(1):55-60. Review.

PMID:
7794563
[PubMed - indexed for MEDLINE]
6.

Deficiency of distal 8p--report of two cases and review of the literature.

Pecile V, Petroni MG, Fertz MC, Filippi G.

Clin Genet. 1990 Apr;37(4):271-8. Review.

PMID:
2190718
[PubMed - indexed for MEDLINE]
7.

A further case of terminal deletion (14)(q32.2) in a child with mild dysmorphic features.

Wang HS, Allanson JE.

Ann Genet. 1992;35(3):171-3. Review. No abstract available.

PMID:
1466568
[PubMed - indexed for MEDLINE]
8.

Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

Fennell SJ, Benson JW, Kindley AD, Schwarz MJ, Czepulkowski B.

J Med Genet. 1989 Mar;26(3):167-71. Review.

PMID:
2651669
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

Fischer H, Oswald HP, Duba HC, Doczy L, Simma B, Utermann G, Haas OA.

Klin Padiatr. 1993 May-Jun;205(3):162-6. Review.

PMID:
8350589
[PubMed - indexed for MEDLINE]
10.

Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.

Fryburg JS, Golden WL.

Am J Med Genet. 1993 Mar 1;45(5):638-41. Review.

PMID:
7681252
[PubMed - indexed for MEDLINE]
11.

Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).

Mircher C, Rethore MO, Lespinasse J, Fert-Ferrer S, Lundsteen C, Kirchoff M.

Am J Med Genet A. 2003 Apr 15;118A(2):176-9. Review.

PMID:
12655498
[PubMed - indexed for MEDLINE]
12.

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Elliott J, Maltby EL, Reynolds B.

J Med Genet. 1993 Mar;30(3):251-2. Review.

PMID:
7682620
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

An interstitial deletion of the long arm of chromosome 13.

Roland B, Lowry RB, Robertson AS, Cox DM.

Clin Genet. 1989 Apr;35(4):276-81. Review.

PMID:
2469548
[PubMed - indexed for MEDLINE]
14.

Two infants with del(3)(p25pter) and a review of previously reported cases.

Ramer JC, Ladda RL, Frankel C.

Am J Med Genet. 1989 May;33(1):108-12. Review.

PMID:
2665488
[PubMed - indexed for MEDLINE]
15.

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME.

Am J Med Genet. 1997 Aug 22;71(3):275-9. Review.

PMID:
9268095
[PubMed - indexed for MEDLINE]
16.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, N├Âthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
[PubMed - indexed for MEDLINE]
17.

An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

Clarke MJ, Thomson DA, Griffiths MJ, Bissenden JG, Aukett A, Watt JL.

J Med Genet. 1989 Mar;26(3):198-201. Review.

PMID:
2523486
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

Perez E, Sullivan KE.

Curr Opin Pediatr. 2002 Dec;14(6):678-83. Review.

PMID:
12436034
[PubMed - indexed for MEDLINE]
19.

Monosomy 18q12.1----21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature.

Krasikov N, Thompson K, Sekhon GS.

Am J Med Genet. 1992 Jun 1;43(3):531-4. Review.

PMID:
1376552
[PubMed - indexed for MEDLINE]

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