Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 43

1.

Deletion of the distal long arm of chromosome 1: a definable syndrome.

Johnson VP, Heck LJ, Carter GA, Flom JO.

Am J Med Genet. 1985 Dec;22(4):685-94.

PMID:
4073121
[PubMed - indexed for MEDLINE]
2.

Chromosome 10qter deletion syndrome: a review and report of three new cases.

Wulfsberg EA, Weaver RP, Cunniff CM, Jones MC, Jones KL.

Am J Med Genet. 1989 Mar;32(3):364-7. Review.

PMID:
2658586
[PubMed - indexed for MEDLINE]
3.

A specific syndrome due to deletion of the distal long arm of chromosome 1.

Meinecke P, Vögtel D.

Am J Med Genet. 1987 Oct;28(2):371-6. Review.

PMID:
3322005
[PubMed - indexed for MEDLINE]
4.

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D.

Clin Genet. 1992 Jan;41(1):25-7. Review.

PMID:
1633642
[PubMed - indexed for MEDLINE]
5.

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

Taysi K, Dengler DR, Jones LA, Heersma JR.

Ann Genet. 1981;24(4):245-7. Review. No abstract available.

PMID:
7036843
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
[PubMed - indexed for MEDLINE]
8.

[Syndrome of terminal deletion of the long arm of chromosome 4. Apropos of a personal case with a review of the literature].

Frappaz D, Bourgeois J, Berthier JC, Laurent C, Bethenod M.

Pediatrie. 1983 Jun;38(4):261-70. Review. French.

PMID:
6353348
[PubMed - indexed for MEDLINE]
9.

Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.

Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H.

Am J Med Genet. 1990 Feb;35(2):269-73. Review.

PMID:
2178418
[PubMed - indexed for MEDLINE]
10.

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

Ioan DM, Maximilian C, Kleczkowska A, Fryns JP.

Ann Genet. 1992;35(3):167-9. Review.

PMID:
1466567
[PubMed - indexed for MEDLINE]
11.

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.

Caliebe A, Waltz S, Jenderny J.

Clin Genet. 1997 Aug;52(2):116-9. Review.

PMID:
9298747
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F.

J Med Genet. 1991 Sep;28(9):627-32. Review.

PMID:
1956064
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E.

Am J Med Genet. 1997 Sep 5;71(4):479-85. Review.

PMID:
9286460
[PubMed - indexed for MEDLINE]
15.

Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.

Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV.

Am J Med Genet. 1985 Sep;22(1):125-34. Review.

PMID:
3901750
[PubMed - indexed for MEDLINE]
16.

Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant.

Donahue ML, Ryan RM.

Am J Med Genet. 1995 Mar 13;56(1):97-100. Review.

PMID:
7747796
[PubMed - indexed for MEDLINE]
17.

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

van Buggenhout G, Decock P, Fryns JP.

Genet Couns. 1996;7(1):53-9. Review.

PMID:
8652089
[PubMed - indexed for MEDLINE]
18.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
[PubMed - indexed for MEDLINE]
19.

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.

Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL.

Am J Med Genet. 1995 Jan 16;55(2):155-60. Review.

PMID:
7717414
[PubMed - indexed for MEDLINE]
20.

[Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report].

Le Goff L, Hadjadj E, Denis D.

J Fr Ophtalmol. 2002 Apr;25(4):388-92. Review. French.

PMID:
12011743
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk