97 related articles for article (PubMed ID: 19500117)
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. PubMed ID: 19500117
[No Abstract] [Full Text] [Related]
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. PubMed ID: 17786114
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9608096
[No Abstract] [Full Text] [Related]
4. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11303509
[No Abstract] [Full Text] [Related]
6. Deletion of 1q in a patient with acrofacial dysostosis.
Waggoner DJ; Ciske DJ; Dowton SB; Watson MS
Am J Med Genet; 1999 Feb; 82(4):301-4. PubMed ID: 10051162
[TBL] [Abstract][Full Text] [Related]
7. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
[TBL] [Abstract][Full Text] [Related]
8. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
Stegmann AP; Jonker LM; Engelen JJ
Eur J Med Genet; 2008; 51(2):93-105. PubMed ID: 18032123
[TBL] [Abstract][Full Text] [Related]
9. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
Erjavec-Skerget A; Stangler-Herodez S; Zagorac A; Zagradisnik B; Kokalj-Vokac N
Croat Med J; 2006 Dec; 47(6):841-50. PubMed ID: 17167856
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16143015
[TBL] [Abstract][Full Text] [Related]
11. 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; 49(6):487-93. PubMed ID: 17142120
[TBL] [Abstract][Full Text] [Related]
12. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
Lorda-Sanchez I; Lopez-Pajares I; Roche MC; Sanz R; Rodriguez de Alba M; Gonzalez-Gonzalez MC; Ibañez A; Ramos C; Ayuso C
Am J Med Genet; 2000 Dec; 95(4):336-8. PubMed ID: 11186887
[TBL] [Abstract][Full Text] [Related]
13. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
14. Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
Tos T; Vurucu S; Karkucak M; Kozan S; Gul D; Akin R
Genet Couns; 2013; 24(3):259-64. PubMed ID: 24341139
[TBL] [Abstract][Full Text] [Related]
15. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
Sogaard M; Tümer Z; Hjalgrim H; Hahnemann J; Friis B; Ledaal P; Pedersen VF; Baekgaard P; Tommerup N; Cingöz S; Duno M; Brondum-Nielsen K
BMC Med Genet; 2005 May; 6():21. PubMed ID: 15904506
[TBL] [Abstract][Full Text] [Related]
16. 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; 104(4):282-6. PubMed ID: 11754060
[TBL] [Abstract][Full Text] [Related]
17. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Dimitrov B; Balikova I; de Ravel T; Van Esch H; De Smedt M; Baten E; Vermeesch JR; Bradinova I; Simeonov E; Devriendt K; Fryns JP; Debeer P
J Med Genet; 2011 Feb; 48(2):98-104. PubMed ID: 21068127
[TBL] [Abstract][Full Text] [Related]
18. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
Slavotinek A; Rosenberg M; Knight S; Gaunt L; Fergusson W; Killoran C; Clayton-Smith J; Kingston H; Campbell RH; Flint J; Donnai D; Biesecker L
J Med Genet; 1999 May; 36(5):405-11. PubMed ID: 10353788
[TBL] [Abstract][Full Text] [Related]
19. Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q.
McCann E; Sweeney E; Sills J; May P; Smith S
Clin Dysmorphol; 2006 Apr; 15(2):81-4. PubMed ID: 16531733
[TBL] [Abstract][Full Text] [Related]
20. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Yu W; Ballif BC; Kashork CD; Heilstedt HA; Howard LA; Cai WW; White LD; Liu W; Beaudet AL; Bejjani BA; Shaw CA; Shaffer LG
Hum Mol Genet; 2003 Sep; 12(17):2145-52. PubMed ID: 12915473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]