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Items: 1 to 20 of 351

1.

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.

Lam AC, Lai KK, Chau AT, Lo IF, Lam ST.

Clin Genet. 2009 Jul;76(1):102-7. doi: 10.1111/j.1399-0004.2008.01121.x. Epub 2009 Jun 4. No abstract available.

PMID:
19500117
2.

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

PMID:
17786114
3.

[Terminal 1q deletion by translocation t(1;20)pat, confirmed by in situ hybridization].

López-Ginés C, Gil-Benso R, Gregori-Romero MA, Paredes-Cencillo C, Castelló-Pomares M, Llombart-Bosch A.

An Esp Pediatr. 1998 Mar;48(3):309-11. Spanish. No abstract available.

PMID:
9608096
4.

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM.

J Med Genet. 2001 Mar;38(3):175-8. No abstract available.

5.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.

Am J Med Genet A. 2007 May 15;143A(10):1071-81.

PMID:
17431898
6.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

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

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447.

PMID:
18629884
7.

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.

Clin Genet. 2005 Oct;68(4):302-19. Review.

PMID:
16143015
8.

Toriello-Carey syndrome phenotype and chromosome anomalies.

Toriello HV, Hatchwell E.

Am J Med Genet A. 2008 Jan 1;146A(1):116. No abstract available.

PMID:
18074373
9.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.

Eur J Med Genet. 2006 Nov-Dec;49(6):487-93. Epub 2006 Apr 25. Review.

PMID:
17142120
10.

Deletion of 1q in a patient with acrofacial dysostosis.

Waggoner DJ, Ciske DJ, Dowton SB, Watson MS.

Am J Med Genet. 1999 Feb 12;82(4):301-4.

PMID:
10051162
11.
12.

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

Pallotta R, Dalprà L, Miozzo M, Ehresmann T, Fusilli P.

Am J Med Genet. 2001 Dec 15;104(4):282-6.

PMID:
11754060
13.
14.

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.

Am J Med Genet A. 2010 Apr;152A(4):1033-5. doi: 10.1002/ajmg.a.33151. No abstract available.

PMID:
20358622
15.

Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.

Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E.

Am J Med Genet A. 2008 May 15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284.

PMID:
18412126
16.

Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A.

Eur J Med Genet. 2007 Nov-Dec;50(6):441-5. Epub 2007 Aug 6.

PMID:
17851150
17.

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

Isidor B, Le Cunff M, Boceno M, Boisseau P, Thomas C, Rival JM, David A, Le Caignec C.

Eur J Med Genet. 2008 Nov-Dec;51(6):679-84. doi: 10.1016/j.ejmg.2008.06.004. Epub 2008 Jul 11.

PMID:
18672103
18.

Characterization of 5q deletions by subtelomeric probes and spectral karyotyping.

Ning Y, Liang JC, Nagarajan L, Schröck E, Ried T.

Cancer Genet Cytogenet. 1998 Jun;103(2):170-2. No abstract available.

PMID:
9614919
19.

Two new cases of pure 1q terminal deletion presenting with brain malformations.

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N.

Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275.

PMID:
18384145
20.

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

Brockmann K, Backes H, Auber B, Kriebel T, Stellmer F, Zoll B.

Am J Med Genet A. 2009 Dec;149A(12):2832-7. doi: 10.1002/ajmg.a.33111.

PMID:
19938094
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