282 related articles for article (PubMed ID: 17304549)
1. Delineation of the cryptic 1qter deletion phenotype.
Merritt JL; Zou Y; Jalal SM; Michels VV
Am J Med Genet A; 2007 Mar; 143A(6):599-603. PubMed ID: 17304549
[TBL] [Abstract][Full Text] [Related]
2. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Chung BH; Stavropoulos J; Marshall CR; Weksberg R; Scherer SW; Yoon G
Am J Med Genet A; 2011 Feb; 155A(2):424-9. PubMed ID: 21271666
[TBL] [Abstract][Full Text] [Related]
3. Three patients with terminal deletions within the subtelomeric region of chromosome 9q.
Neas KR; Smith JM; Chia N; Huseyin S; St Heaps L; Peters G; Sholler G; Tzioumi D; Sillence DO; Mowat D
Am J Med Genet A; 2005 Feb; 132A(4):425-30. PubMed ID: 15633179
[TBL] [Abstract][Full Text] [Related]
4. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Nagamani SC; Erez A; Eng C; Ou Z; Chinault C; Workman L; Coldwell J; Stankiewicz P; Patel A; Lupski JR; Cheung SW
Eur J Hum Genet; 2009 May; 17(5):573-81. PubMed ID: 19034313
[TBL] [Abstract][Full Text] [Related]
5. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
Tzschach A; Krause-Plonka I; Menzel C; Kalscheuer V; Toennies H; Scherthan H; Knoblauch A; Radke M; Ropers HH; Hoeltzenbein M
Am J Med Genet A; 2006 Mar; 140(5):496-502. PubMed ID: 16470790
[TBL] [Abstract][Full Text] [Related]
6. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.
Erdel M; Duba HC; Verdorfer I; Lingenhel A; Geiger R; Gutenberger KH; Ludescher E; Utermann B; Utermann G
Hum Genet; 1997 May; 99(5):596-601. PubMed ID: 9150724
[TBL] [Abstract][Full Text] [Related]
7. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
van Bever Y; Rooms L; Laridon A; Reyniers E; van Luijk R; Scheers S; Wauters J; Kooy RF
Am J Med Genet A; 2005 May; 135(1):91-5. PubMed ID: 15822126
[TBL] [Abstract][Full Text] [Related]
8. An interstitial deletion of chromosome 7 at band q21: a case report and review.
Courtens W; Vermeulen S; Wuyts W; Messiaen L; Wauters J; Nuytinck L; Peeters N; Storm K; Speleman F; Nöthen MM
Am J Med Genet A; 2005 Apr; 134A(1):12-23. PubMed ID: 15732063
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
Jiang YH; Martinez JE; Ou Z; Cooper ML; Kang SH; Pursley A; Cheung SW
Am J Med Genet A; 2008 Aug; 146A(15):1986-93. PubMed ID: 18627051
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
Svensson AM; Curry CJ; South ST; Whitby H; Maxwell TM; Aston E; Fisher J; Carmack CE; Scheffer A; Abu-Shamsieh A; Brothman AR
Am J Med Genet A; 2007 Jun; 143A(12):1348-53. PubMed ID: 17506097
[TBL] [Abstract][Full Text] [Related]
13. Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.
Sensi A; Prontera P; Buldrini B; Palma S; Aiello V; Gruppioni R; Calzolari E; Volinia S; Martini A
Am J Med Genet A; 2008 Jan; 146A(1):110-5. PubMed ID: 18074369
[TBL] [Abstract][Full Text] [Related]
14. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
Andrieux J; Cuvellier JC; Duban-Bedu B; Joriot-Chekaf S; Dieux-Coeslier A; Manouvrier-Hanu S; Delobel B; Vallee L
Eur J Med Genet; 2008; 51(1):87-91. PubMed ID: 18053786
[TBL] [Abstract][Full Text] [Related]
15. Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.
Bonnet C; Zix C; Grégoire MJ; Brochet K; Duc M; Rousselet F; Philippe C; Jonveaux P
Am J Med Genet A; 2006 Feb; 140(3):233-7. PubMed ID: 16411200
[TBL] [Abstract][Full Text] [Related]
16. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
Tzschach A; Krause-Plonka I; Menzel C; Knoblauch A; Toennies H; Hoeltzenbein M; Radke M; Ropers HH; Kalscheuer V
Am J Med Genet A; 2006 May; 140(10):1108-10. PubMed ID: 16619204
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
Manolakos E; Vetro A; Kefalas K; Thomaidis L; Aperis G; Sotiriou S; Kitsos G; Merkas M; Sifakis S; Papoulidis I; Liehr T; Zuffardi O; Petersen MB
Am J Med Genet A; 2011 Jun; 155A(6):1476-82. PubMed ID: 21567918
[No Abstract] [Full Text] [Related]
19. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Shaffer LG; Theisen A; Bejjani BA; Ballif BC; Aylsworth AS; Lim C; McDonald M; Ellison JW; Kostiner D; Saitta S; Shaikh T
Genet Med; 2007 Sep; 9(9):607-16. PubMed ID: 17873649
[TBL] [Abstract][Full Text] [Related]
20. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
de Munnik SA; García-Miñaúr S; Hoischen A; van Bon BW; Boycott KM; Schoots J; Hoefsloot LH; Knoers NV; Bongers EM; Brunner HG
Eur J Hum Genet; 2014 Jun; 22(6):844-6. PubMed ID: 24193349
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
