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Items: 1 to 20 of 301

1.

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.

Descartes M.

Clin Dysmorphol. 2006 Jul;15(3):153-4.

PMID:
16760734
2.

A supernumerary marker chromosome with a neocentromere derived from 5p14-->pter.

Fritz B, Dietze I, Wandall A, Aslan M, Schmidt A, Kattner E, Schwerdtfeger R, Friedrich U.

J Med Genet. 2001 Aug;38(8):559-65. No abstract available.

3.

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM.

Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550.

PMID:
18925675
4.

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
5.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR.

Am J Med Genet. 1997 Aug 8;71(2):189-93.

PMID:
9217220
6.

Brachydactylic multiple delta phalanges plus syndrome.

Ahn CP, Lachman RS, Cox VA, Blumberg B, Klein OD.

Am J Med Genet A. 2005 Sep 15;138(1):41-4.

PMID:
16092122
7.

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA.

Clin Dysmorphol. 2006 Jul;15(3):127-32.

PMID:
16760729
8.

Clinical report of congenital lymphatic malformations and partial gigantism of the hands associated with a heterogeneous karyotype.

Wang Z, Li Q, Huang GS, Liu SJ, Guo HZ, Zhang J, Cheng H, Xu J, Barenboim-Stapleton L, Ried T.

Am J Med Genet A. 2005 Jan 1;132A(1):106-7. No abstract available.

PMID:
15472995
9.

Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.

Micheil Innes A.

Clin Dysmorphol. 2005 Oct;14(4):209-10. No abstract available.

PMID:
16155425
10.

De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation.

Ulucan H, Akin R, Kösem M, Gül D.

Am J Med Genet A. 2006 Feb 1;140(3):298-9. No abstract available.

PMID:
16411238
11.

Distal 5q deletion with associated parietal foramina.

Aftimos S, Asquith P, Ashton F, Vasilevski O, Love DR.

Clin Dysmorphol. 2010 Jan;19(1):43-7. doi: 10.1097/MCD.0b013e3283345596. No abstract available.

PMID:
19952731
12.

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J.

Eur J Hum Genet. 2004 Sep;12(9):718-28.

13.

Raine syndrome: report of a case with hand and foot anomalies.

Mahafza T, El-Shanti H, Omari H.

Clin Dysmorphol. 2001 Jul;10(3):227-9. No abstract available.

PMID:
11446420
14.

Interstitial deletion of 13q22-->q31: case report and review of the literature.

Morales JA, Mendizabal AP, Vásquez AI, Figuera LE, González-García JR.

Clin Dysmorphol. 2006 Jul;15(3):139-43. Review.

PMID:
16760731
15.

Digitotalar dysmorphism with craniofacial and other new associated abnormalities.

Kantaputra PN, Chalidapong P, Visrutaratna P.

Clin Dysmorphol. 2001 Jul;10(3):171-5.

PMID:
11446408
16.

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A.

Am J Med Genet A. 2005 May 1;134(4):439-42.

PMID:
15810003
17.

Interstitial deletion for a region in the long arm of chromosome 16.

Lin CC, Lowry RB, Snyder FF.

Hum Genet. 1983;65(2):134-8.

PMID:
6654327
18.

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

Lorda-Sánchez I, Urioste M, Villa A, Carrascosa MC, Vázquez MS, Martínez A, Martínez-Frías ML.

Am J Med Genet. 1997 Feb 11;68(4):476-80. Review.

PMID:
9021025
19.

Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome.

Neri G, Reynolds JF, Westphal J, Hinz J, Daniel A.

Am J Med Genet. 1984 Sep;19(1):189-93.

PMID:
6496569
20.

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