390 related articles for article (PubMed ID: 20503328)
41. De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L; Khau Van Kien P; Callier P; Ruiz-Pallares N; Baudoin C; Plancke A; Wolf JE; Thauvin-Robinet C; Durand E; Minot D; Dulieu V; Metaizeau JD; Leheup B; Coron F; Bidot S; Huet F; Jondeau G; Boileau C; Claustres M; Mugneret F
Eur J Med Genet; 2010; 53(4):208-12. PubMed ID: 20478419
[TBL] [Abstract][Full Text] [Related]
42. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Simovich MJ; Yatsenko SA; Kang SH; Cheung SW; Dudek ME; Pursley A; Ward PA; Patel A; Lupski JR
Prenat Diagn; 2007 Dec; 27(12):1112-7. PubMed ID: 17849500
[TBL] [Abstract][Full Text] [Related]
43. Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.
Sireteanu A; Braha E; Popescu R; Gramescu M; Gorduza EV; Rusu C
Rev Med Chir Soc Med Nat Iasi; 2013; 117(3):731-4. PubMed ID: 24502041
[TBL] [Abstract][Full Text] [Related]
44. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E; Shanske AL; Anyane-Yeboa K; Nahum O; Pirzadeh S; Blumfield E; Jobanputra V; Warburton D; Levy B
Am J Med Genet A; 2011 Aug; 155A(8):1884-96. PubMed ID: 21744488
[TBL] [Abstract][Full Text] [Related]
45. Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.
Gamerdinger U; Eggermann T; Schubert R; Schwanitz G; Kreiss-Nachtsheim M
Am J Med Genet A; 2008 May; 146A(9):1180-4. PubMed ID: 18386807
[TBL] [Abstract][Full Text] [Related]
46. Array-CGH study of partial trisomy 9p without mental retardation.
Bouhjar IB; Hannachi H; Zerelli SM; Labalme A; Gmidène A; Soyah N; Missaoui S; Sanlaville D; Elghezal H; Saad A
Am J Med Genet A; 2011 Jul; 155A(7):1735-9. PubMed ID: 21626676
[TBL] [Abstract][Full Text] [Related]
47. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
la Cour Sibbesen E; Jespersgaard C; Alosi D; Bisgaard AM; Tümer Z
Am J Med Genet A; 2013 Jun; 161A(6):1447-52. PubMed ID: 23633410
[TBL] [Abstract][Full Text] [Related]
48. A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1).
Mohrschladt MF; Bijlsma EK; Sluijter S; De Coo RF; Hoovers JM; Leschot NJ
Clin Dysmorphol; 1999 Jul; 8(3):211-4. PubMed ID: 10457857
[TBL] [Abstract][Full Text] [Related]
49. De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.
Kitsiou-Tzeli S; Tzetis M; Sofocleous C; Vrettou C; Xaidara A; Giannikou K; Pampanos A; Mavrou A; Kanavakis E
Am J Med Genet A; 2010 Aug; 152A(8):1925-32. PubMed ID: 20575009
[TBL] [Abstract][Full Text] [Related]
50. Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.
Deng L; Peng Y; Liu J; Wen J; Xia Y; Liang D; Wu L
Birth Defects Res A Clin Mol Teratol; 2014 Apr; 100(4):294-9. PubMed ID: 24668944
[TBL] [Abstract][Full Text] [Related]
51. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M; Ciccone R; Magini P; Pramparo T; Gimelli S; Messa J; Novara F; Vetro A; Rossi E; Maraschio P; Bonaglia MC; Anichini C; Ferrero GB; Silengo M; Fazzi E; Zatterale A; Fischetto R; Previderé C; Belli S; Turci A; Calabrese G; Bernardi F; Meneghelli E; Riegel M; Rocchi M; Guerneri S; Lalatta F; Zelante L; Romano C; Fichera M; Mattina T; Arrigo G; Zollino M; Giglio S; Lonardo F; Bonfante A; Ferlini A; Cifuentes F; Van Esch H; Backx L; Schinzel A; Vermeesch JR; Zuffardi O
J Med Genet; 2007 Dec; 44(12):750-62. PubMed ID: 17766364
[TBL] [Abstract][Full Text] [Related]
52. [Genetic analysis of an infant with duplication 9q34 syndrome].
Tong Y; Yan S; Shi J; Chen L; Wan C; Xu K
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):437-439. PubMed ID: 29896750
[TBL] [Abstract][Full Text] [Related]
53. Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.
Kulharya AS; Flannery DB; Norris K; Lovell C; Levy B; Velagaleti GV
Am J Med Genet A; 2008 Sep; 146A(17):2234-41. PubMed ID: 18666229
[TBL] [Abstract][Full Text] [Related]
54. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Zollino M; Di Stefano C; Zampino G; Mastroiacovo P; Wright TJ; Sorge G; Selicorni A; Tenconi R; Zappalà A; Battaglia A; Di Rocco M; Palka G; Pallotta R; Altherr MR; Neri G
Am J Med Genet; 2000 Sep; 94(3):254-61. PubMed ID: 10995514
[TBL] [Abstract][Full Text] [Related]
55. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
Klein OD; Cotter PD; Albertson DG; Pinkel D; Tidyman WE; Moore MW; Rauen KA
Clin Genet; 2004 Jun; 65(6):477-82. PubMed ID: 15151506
[TBL] [Abstract][Full Text] [Related]
56. Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.
de Carvalho AF; da Silva Bellucco FT; Kulikowski LD; Toralles MB; Melaragno MI
Hum Genet; 2008 Nov; 124(4):387-92. PubMed ID: 18777129
[TBL] [Abstract][Full Text] [Related]
57. Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report.
Durmaz CD; Yararbaş K; Kutlay NY; Türedi Ö; Akın İ; Gürbüz C; Karataş G; Tükün A
Cytogenet Genome Res; 2016; 148(1):19-24. PubMed ID: 27166162
[TBL] [Abstract][Full Text] [Related]
58. Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Masri A; Gimelli S; Hamamy H; Sloan-Béna F
Am J Med Genet A; 2014 May; 164A(5):1254-61. PubMed ID: 24478242
[TBL] [Abstract][Full Text] [Related]
59. A further patient with van Maldergem syndrome.
Neuhann TM; Müller D; Hackmann K; Holzinger S; Schrock E; Di Donato N
Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
[TBL] [Abstract][Full Text] [Related]
60. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
Roselló M; Monfort S; Orellana C; Oltra S; Martínez Garay I; Martínez F
Med Clin (Barc); 2007 Mar; 128(11):419-21. PubMed ID: 17394858
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
