239 related articles for article (PubMed ID: 15578619)
1. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
Le Caignec C; De Mas P; Vincent MC; Bocéno M; Bourrouillou G; Rival JM; David A
Am J Med Genet A; 2005 Jan; 132A(2):175-80. PubMed ID: 15578619
[TBL] [Abstract][Full Text] [Related]
2. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
Anderlid BM; Schoumans J; Hallqvist A; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Eur J Hum Genet; 2003 Jan; 11(1):89-92. PubMed ID: 12529712
[TBL] [Abstract][Full Text] [Related]
3. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C; Schneider L; Young TL; Wasserman N; Yaeger D; Lu F; Wheeler PG; Williams MS; Bason L; Jukofsky L; Menon A; Geschwindt R; Chudley AE; Saraiva J; Schinzel AA; Guichet A; Dobyns WE; Toutain A; Spinner NB; Krantz ID
Am J Med Genet A; 2005 Apr; 134A(1):3-11. PubMed ID: 15704124
[TBL] [Abstract][Full Text] [Related]
4. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Martinet D; Filges I; Besuchet Schmutz N; Morris MA; Gaide AC; Dahoun S; Bottani A; Addor MC; Antonarakis SE; Beckmann JS; Béna F
Am J Med Genet A; 2008 Aug; 146A(16):2094-102. PubMed ID: 18629875
[TBL] [Abstract][Full Text] [Related]
5. Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.
Piccione M; Antona R; Salzano E; Cavani S; Malacarne M; Morreale Bubella R; Pierluigi M; Viaggi CD; Corsello G
Am J Med Genet A; 2012 Jan; 158A(1):150-4. PubMed ID: 22105932
[TBL] [Abstract][Full Text] [Related]
6. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
Kleefstra T; Koolen DA; Nillesen WM; de Leeuw N; Hamel BC; Veltman JA; Sistermans EA; van Bokhoven H; van Ravenswaay C; de Vries BB
Am J Med Genet A; 2006 Mar; 140(6):618-23. PubMed ID: 16470689
[TBL] [Abstract][Full Text] [Related]
7. Schizophrenia in an adult with 6p25 deletion syndrome.
Caluseriu O; Mirza G; Ragoussis J; Chow EW; MacCrimmon D; Bassett AS
Am J Med Genet A; 2006 Jun; 140(11):1208-13. PubMed ID: 16642507
[TBL] [Abstract][Full Text] [Related]
8. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Hwang KS; Pearson MA; Stankiewicz P; Lennon PA; Cooper ML; Wu J; Ou Z; Cai WW; Patel A; Cheung SW
Am J Med Genet A; 2005 Aug; 137(1):88-93. PubMed ID: 16015583
[TBL] [Abstract][Full Text] [Related]
9. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
Nakane T; Kousuke N; Sonoko H; Yuko K; Sato H; Kubota T; Sugita K
Pediatr Int; 2013 Jun; 55(3):376-81. PubMed ID: 23782370
[TBL] [Abstract][Full Text] [Related]
10. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Shao L; Shaw CA; Lu XY; Sahoo T; Bacino CA; Lalani SR; Stankiewicz P; Yatsenko SA; Li Y; Neill S; Pursley AN; Chinault AC; Patel A; Beaudet AL; Lupski JR; Cheung SW
Am J Med Genet A; 2008 Sep; 146A(17):2242-51. PubMed ID: 18663743
[TBL] [Abstract][Full Text] [Related]
11. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
Archer HL; Gupta S; Enoch S; Thompson P; Rowbottom A; Chua I; Warren S; Johnson D; Ledbetter DH; Lese-Martin C; Williams P; Pilz DT
Am J Med Genet A; 2005 Jul; 136(1):38-44. PubMed ID: 15937949
[TBL] [Abstract][Full Text] [Related]
12. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
Qi Z; Jeng LJ; Slavotinek A; Yu J
BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
[TBL] [Abstract][Full Text] [Related]
13. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
Maclean K; Smith J; St Heaps L; Chia N; Williams R; Peters GB; Onikul E; McCrossin T; Lehmann OJ; Adès LC
Am J Med Genet A; 2005 Feb; 132A(4):381-5. PubMed ID: 15654696
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
Gould DB; Jaafar MS; Addison MK; Munier F; Ritch R; MacDonald IM; Walter MA
BMC Med Genet; 2004 Jun; 5():17. PubMed ID: 15219231
[TBL] [Abstract][Full Text] [Related]
15. The 6p subtelomere deletion syndrome.
DeScipio C
Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):377-82. PubMed ID: 17918735
[TBL] [Abstract][Full Text] [Related]
16. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.
Linhares ND; Svartman M; Rodrigues TC; Rosenberg C; Valadares ER
Eur J Med Genet; 2015 May; 58(5):310-8. PubMed ID: 25817395
[TBL] [Abstract][Full Text] [Related]
17. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
[TBL] [Abstract][Full Text] [Related]
18. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
[TBL] [Abstract][Full Text] [Related]
19. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
[TBL] [Abstract][Full Text] [Related]
20. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
Stewart DR; Huang A; Faravelli F; Anderlid BM; Medne L; Ciprero K; Kaur M; Rossi E; Tenconi R; Nordenskjöld M; Gripp KW; Nicholson L; Meschino WS; Capua E; Quarrell OW; Flint J; Irons M; Giampietro PF; Schowalter DB; Zaleski CA; Malacarne M; Zackai EH; Spinner NB; Krantz ID
Am J Med Genet A; 2004 Aug; 128A(4):340-51. PubMed ID: 15264279
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]