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Results: 14

1.

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA.

Am J Med Genet A. 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227.

PMID:
20101693
[PubMed - indexed for MEDLINE]
2.

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.

Am J Med Genet A. 2005 Jun 15;135(3):308-13. Review.

PMID:
15887264
[PubMed - indexed for MEDLINE]
3.

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE.

Clin Genet. 1995 Feb;47(2):90-5. Review.

PMID:
7606850
[PubMed - indexed for MEDLINE]
4.

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]
5.

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Riegel M, Schinzel A.

Am J Med Genet. 2002 Jul 22;111(1):76-80. Review. Erratum in: Am J Med Genet. 2002 Dec 1;113(3):313..

PMID:
12124740
[PubMed - indexed for MEDLINE]
6.

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel H.

Am J Med Genet A. 2009 Feb;149A(2):242-5. doi: 10.1002/ajmg.a.32637. Review.

PMID:
19161151
[PubMed - indexed for MEDLINE]
7.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.

Clin Genet. 1994 Dec;46(6):423-9. Review.

PMID:
7889659
[PubMed - indexed for MEDLINE]
8.

Distal Xq duplication and functional Xq disomy.

Sanlaville D, Schluth-Bolard C, Turleau C.

Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Review.

PMID:
19232094
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion.

Maurin ML, Labrune P, Brisset S, Le Lorc'h M, Pineau D, Castel C, Romana S, Tachdjian G.

Am J Med Genet A. 2009 Feb;149A(2):226-31. doi: 10.1002/ajmg.a.32603. Review.

PMID:
19161154
[PubMed - indexed for MEDLINE]
10.

Deletion of chromosome 2 (p11-p13): case report and review.

Prasher VP, Krishnan VH, Clarke DJ, Maliszewska CT, Corbett JA.

J Med Genet. 1993 Jul;30(7):604-6. Review.

PMID:
8411037
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026
[PubMed - indexed for MEDLINE]
12.

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

Aughton DJ, AlSaadi AA, Johnson JA, Transue DJ, Trock GL.

Am J Med Genet. 1993 Apr 15;46(2):159-64. Review.

PMID:
7683452
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

Am J Med Genet A. 2005 Feb 1;132(4):402-10. Review.

PMID:
15742475
[PubMed - indexed for MEDLINE]

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