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Results: 1 to 20 of 581

1.

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2009 Jun;149A(6):1323-6. doi: 10.1002/ajmg.a.32857. No abstract available.

PMID:
19449416
[PubMed - indexed for MEDLINE]
2.

A case of de novo interstitial deletion 3q.

Okada N, Hasegawa T, Osawa M, Fukuyama Y.

J Med Genet. 1987 May;24(5):305-8.

PMID:
3585947
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).

Vermeesch JR, Fryns JP.

Am J Med Genet A. 2003 Jul 15;120A(2):299-300. No abstract available.

PMID:
12833421
[PubMed - indexed for MEDLINE]
4.

Partial monosomy of long arm of chromosome 4 due to interstitial deletion.

McDermott A, Cain R, Howell R.

Hum Genet. 1980;53(3):305-7.

PMID:
7372333
[PubMed - indexed for MEDLINE]
5.

De novo 3q/7q translocation and associated interstitial 7q35 deletion.

Fryns JP, Kleczkowska A, van den Berghe H.

Clin Genet. 1988 Jan;33(1):60-2.

PMID:
3342549
[PubMed - indexed for MEDLINE]
6.

Array CGH defined interstitial deletion on chromosome 14: a new case.

Piccione M, Antona V, Scavone V, Malacarne M, Pierluigi M, Grasso M, Corsello G.

Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21.

PMID:
20087602
[PubMed - indexed for MEDLINE]
7.

Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.

Mdzin R, Ko C, Abdul Latif Z, Zakaria Z.

Singapore Med J. 2008 Nov;49(11):e336-9.

PMID:
19037546
[PubMed - indexed for MEDLINE]
Free Article
8.

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB.

Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12. No abstract available.

PMID:
21567918
[PubMed - indexed for MEDLINE]
9.

Interstitial del(13q) associated with blindness and mental retardation.

Juberg RC, Mowrey PN.

Am J Med Genet. 1984 Mar;17(3):609-13.

PMID:
6711612
[PubMed - indexed for MEDLINE]
10.

Inherited deletion of chromosome (21p-) in a child with congenital malformation and psychomotor retardation.

Kar B, Prabhakara K, Murthy SK.

Indian Pediatr. 1992 Jul;29(7):929-34. Review. No abstract available.

PMID:
1428153
[PubMed - indexed for MEDLINE]
11.

Rieger syndrome and interstitial 4q26 deletion.

Fryns JP, Van Den Berghe H.

Genet Couns. 1992;3(3):153-4. No abstract available.

PMID:
1388934
[PubMed - indexed for MEDLINE]
12.

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.

Am J Med Genet A. 2005 Aug 15;137(1):81-7. Review.

PMID:
16015581
[PubMed - indexed for MEDLINE]
13.

Interstitial 16q deletion with typical dysmorphic syndrome.

Fryns JP, Proesmans W, Van Hoey G, Van den Berghe H.

Ann Genet. 1981;24(2):124-5. No abstract available.

PMID:
6977293
[PubMed - indexed for MEDLINE]
14.

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).

Beemer FA, Klep-de Pater JM, Sepers GJ, Janssen B.

Clin Genet. 1985 May;27(5):515-9.

PMID:
4006278
[PubMed - indexed for MEDLINE]
15.

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation.

Behjati F, Shafeghati Y, Kahrizi K, Firouzabadi SG, Najmabadi H, Dixon N, Davies AF.

Am J Med Genet A. 2008 Dec 15;146A(24):3223-6. doi: 10.1002/ajmg.a.32575. No abstract available.

PMID:
19012333
[PubMed - indexed for MEDLINE]
16.

46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.

Maaswinkel-Mooij PD, de Jong P, Beverstock GC.

Clin Genet. 1993 Feb;43(2):76-8.

PMID:
8448905
[PubMed - indexed for MEDLINE]
17.

Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.

Petit P, Devriendt K, Azou M, Gewillig M, Fryns JP.

Genet Couns. 1998;9(4):271-5.

PMID:
9894164
[PubMed - indexed for MEDLINE]
18.

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.

Schluth C, Gesny R, Borck G, Redon R, Abadie V, Kleinfinger P, Munnich A, Lyonnet S, Colleaux L.

Am J Med Genet A. 2008 Jan 1;146A(1):93-6.

PMID:
18076123
[PubMed - indexed for MEDLINE]
19.

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.

Bisgaard AM, Rackauskaite G, Thelle T, Kirchhoff M, Bryndorf T.

Am J Med Genet A. 2006 Mar 15;140(6):644-8. No abstract available.

PMID:
16470702
[PubMed - indexed for MEDLINE]
20.

A case of de novo interstitial deletion of chromosome 5(q33q34).

Giltay JC, Gerssen-Schoorl KB, Luitse GH, Dauwerse HG.

Clin Genet. 1997 Sep;52(3):173-6.

PMID:
9377807
[PubMed - indexed for MEDLINE]

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