202 related articles for article (PubMed ID: 26749249)
1. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
Mekkawy MK; Mazen IM; Kamel AK; Vater I; Zaki MS
Am J Med Genet A; 2016 Apr; 170A(4):1050-8. PubMed ID: 26749249
[TBL] [Abstract][Full Text] [Related]
2. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
[TBL] [Abstract][Full Text] [Related]
3. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L; Di Cosola ML; Buttiglione M; Pansini A; Buonadonna AL; Craig F; Cariola F; Petruzzelli MG; Gentile M
Am J Med Genet A; 2012 Jul; 158A(7):1713-8. PubMed ID: 22639464
[TBL] [Abstract][Full Text] [Related]
4. Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
Benussi DG; Costa P; Zollino M; Murdolo M; Petix V; Carrozzi M; Pecile V
Genet Test Mol Biomarkers; 2009 Apr; 13(2):199-204. PubMed ID: 19378504
[TBL] [Abstract][Full Text] [Related]
5. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Zumkeller W; Volleth M; Muschke P; Tönnies H; Heller A; Liehr T; Wieacker P; Stumm M
Am J Med Genet A; 2004 Sep; 129A(3):261-4. PubMed ID: 15326625
[TBL] [Abstract][Full Text] [Related]
6. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.
Vaglio A; Milunsky A; Quadrelli A; Huang XL; Maher T; Mechoso B; Martínez S; Pagano S; Bellini S; Costabel M; Quadrelli R
Genet Test Mol Biomarkers; 2010 Feb; 14(1):57-65. PubMed ID: 20143912
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Elidrissi Errahhali M; Elidrissi Errahhali M; Ramdani S; Lhousni S; Benajiba N; Rkain M; Babakhouya A; Elouali A; Ghanam A; Amrani R; Messaoudi S; Ayyad A; Oneib B; Mimouni A; Saadi H; Allaoui S; Ouarzane M; Guichet A; Charif M; Boulouiz R; Bellaoui M
Arch Pediatr; 2024 Feb; 31(2):112-116. PubMed ID: 38262863
[TBL] [Abstract][Full Text] [Related]
9. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.
Pangalos C; Théophile D; Sinet PM; Marks A; Stamboulieh-Abazis D; Chettouh Z; Prieur M; Verellen C; Rethoré MO; Lejeune J
Am J Hum Genet; 1992 Dec; 51(6):1240-50. PubMed ID: 1463008
[TBL] [Abstract][Full Text] [Related]
10. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Watanabe S; Shimizu K; Ohashi H; Kosaki R; Okamoto N; Shimojima K; Yamamoto T; Chinen Y; Mizuno S; Dowa Y; Shiomi N; Toda Y; Tashiro K; Shichijo K; Minatozaki K; Aso S; Minagawa K; Hiraki Y; Shimokawa O; Matsumoto T; Fukuda M; Moriuchi H; Yoshiura K; Kondoh T
Am J Med Genet A; 2016 Apr; 170A(4):908-17. PubMed ID: 26782913
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
Inage E; Suzuki M; Minowa K; Akimoto N; Hisata K; Shoji H; Okumura A; Shimojima K; Shimizu T; Yamamoto T
Eur J Med Genet; 2010; 53(3):159-61. PubMed ID: 20219705
[TBL] [Abstract][Full Text] [Related]
12. De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.
Sivasankaran A; Murthy K; Oruganti VP; Deenadayalu A; R Samuel C; Kandukuri LR
Clin Dysmorphol; 2017 Jan; 26(1):26-32. PubMed ID: 27759572
[TBL] [Abstract][Full Text] [Related]
13. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
14. Partial monosomy of 10p and duplication of another chromosome in two patients.
Ohta S; Isojima T; Mizuno Y; Kato M; Mimaki M; Seki M; Sato Y; Ogawa S; Takita J; Kitanaka S; Oka A
Pediatr Int; 2017 Jan; 59(1):99-102. PubMed ID: 28102624
[TBL] [Abstract][Full Text] [Related]
15. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
Wong SL; Chou HH; Chao CN; Leung JH; Chen YH; Hsu CD
BMC Res Notes; 2015 Jun; 8():250. PubMed ID: 26088875
[TBL] [Abstract][Full Text] [Related]
16. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
Ruiz-Botero F; Pachajoa H
J Med Case Rep; 2016 Jul; 10():204. PubMed ID: 27459995
[TBL] [Abstract][Full Text] [Related]
17. A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Papoulidis I; Papageorgiou E; Siomou E; Oikonomidou E; Thomaidis L; Vetro A; Zuffardi O; Liehr T; Manolakos E; Vassilis P
Gene; 2014 Feb; 536(2):441-3. PubMed ID: 24334122
[TBL] [Abstract][Full Text] [Related]
18. Report on 3 patients with 12p duplication including GRIN2B.
Poirsier C; Landais E; Bednarek N; Nobecourt JM; Khoury M; Schmidt P; Morville P; Gruson N; Clomes S; Michel N; Riot A; Manjeongean C; Gaillard D; Doco-Fenzy M
Eur J Med Genet; 2014 Apr; 57(5):185-94. PubMed ID: 24503147
[TBL] [Abstract][Full Text] [Related]
19. Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.
Pal CV; Eble TN; Burnside RD; Bi W; Patel A; Franco LM
Eur J Med Genet; 2014; 57(6):264-6. PubMed ID: 24636861
[TBL] [Abstract][Full Text] [Related]
20. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
Capkova P; Misovicova N; Vrbicka D
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]