137 related articles for article (PubMed ID: 36880037)
1. Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
Delchev T; Hadjidekova S; Bichev S; Veleva T; Boneva I; Avdjieva-Tzavella D
Balkan J Med Genet; 2022 Jun; 25(1):19-24. PubMed ID: 36880037
[TBL] [Abstract][Full Text] [Related]
2. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS; Krepischi-Santos AC; Rocha KM; Cavalcanti DP; Kim CA; Bertola DR; Alonso LG; D'Angelo CS; Mazzeu JF; Froyen G; Lugtenberg D; Vianna-Morgante AM; Rosenberg C; Passos-Bueno MR
J Med Genet; 2008 Jul; 45(7):447-50. PubMed ID: 18456720
[TBL] [Abstract][Full Text] [Related]
3. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
D'Angelo CS; Varela MC; de Castro CIe; Kim CA; Bertola DR; Lourenço CM; Perez AB; Koiffmann CP
Mol Cytogenet; 2014; 7(1):75. PubMed ID: 25411582
[TBL] [Abstract][Full Text] [Related]
4. A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Atli EI; Yalcintepe S; Atli E; Demir S; Mail C; Eker D; Kalkan R; Gurkan H
J Craniofac Surg; 2021 May; 32(3):1059-1062. PubMed ID: 33252532
[TBL] [Abstract][Full Text] [Related]
5. Submicroscopic copy-number variations associated with 46,XY disorders of sex development.
Kon M; Fukami M
Mol Cell Pediatr; 2015 Dec; 2(1):7. PubMed ID: 26542297
[TBL] [Abstract][Full Text] [Related]
6. Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.
Lee D; Na S; Park S; Go S; Ma J; Yang S; Kim K; Lee S; Hwang D
Mol Cytogenet; 2019; 12():10. PubMed ID: 30891099
[TBL] [Abstract][Full Text] [Related]
7. Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling.
Szczałuba K; Jakubiuk-Tomaszuk A; Kędzior M; Bernaciak J; Zdrodowska J; Kurzątkowski W; Radkowski M; Demkow U
Adv Exp Med Biol; 2016; 912():11-9. PubMed ID: 26987321
[TBL] [Abstract][Full Text] [Related]
8. Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations.
Chen X; Li H; Mao Y; Xu X; Lv J; Zhou L; Lin X; Tang S
Mol Cytogenet; 2014; 7(1):96. PubMed ID: 25506396
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B; Nagy A; Szakszon K; Mokánszki A; Balogh E; Ujfalusi A; Tihanyi M; Novák L; Bognár L; Oláh É
Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
[TBL] [Abstract][Full Text] [Related]
10. Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification.
Deshpande M; Harper J; Holloway M; Palmer R; Wang R
Genet Test Mol Biomarkers; 2010 Jun; 14(3):421-4. PubMed ID: 20408732
[TBL] [Abstract][Full Text] [Related]
11. Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.
John N; Rajasekhar M; Girisha KM; Sharma PS; Gopinath PM
Indian J Hum Genet; 2013 Apr; 19(2):165-70. PubMed ID: 24019617
[TBL] [Abstract][Full Text] [Related]
12. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Zollino M; Lattante S; Orteschi D; Frangella S; Doronzio PN; Contaldo I; Mercuri E; Marangi G
Front Neurosci; 2017; 11():587. PubMed ID: 29093661
[TBL] [Abstract][Full Text] [Related]
13. High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia.
Othman MA; Melo JB; Carreira IM; Rincic M; Glaser A; Grygalewicz B; Gruhn B; Wilhelm K; Rittscher K; Meyer B; Silva ML; de Jesus Marques Salles T; Liehr T
Mol Cytogenet; 2015; 8():45. PubMed ID: 26136832
[TBL] [Abstract][Full Text] [Related]
14. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A; Gos M; Obersztyn E
J Appl Genet; 2018 May; 59(2):133-147. PubMed ID: 29392564
[TBL] [Abstract][Full Text] [Related]
15. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype.
Leung TY; Vogel I; Lau TK; Chong W; Hyett JA; Petersen OB; Choy KW
Ultrasound Obstet Gynecol; 2011 Sep; 38(3):314-9. PubMed ID: 21400624
[TBL] [Abstract][Full Text] [Related]
16. Syndromic Craniosynostosis: Complexities of Clinical Care.
O'Hara J; Ruggiero F; Wilson L; James G; Glass G; Jeelani O; Ong J; Bowman R; Wyatt M; Evans R; Samuels M; Hayward R; Dunaway DJ
Mol Syndromol; 2019 Feb; 10(1-2):83-97. PubMed ID: 30976282
[TBL] [Abstract][Full Text] [Related]
17. Multidisciplinary care of craniosynostosis.
Buchanan EP; Xue Y; Xue AS; Olshinka A; Lam S
J Multidiscip Healthc; 2017; 10():263-270. PubMed ID: 28740400
[TBL] [Abstract][Full Text] [Related]
18. Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.
Lyon SM; Waggoner D; Halbach S; Thorland EC; Khorasani L; Reid RR
Genes Dis; 2015 Dec; 2(4):347-352. PubMed ID: 26966713
[TBL] [Abstract][Full Text] [Related]
19. Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.
Loghmani Khouzani H; Kariminejad A; Zamani G; Ghalandary M; Bozorgmehr B; Amirsalari S; Mojahedi F; Tonekaboni SH; Kariminejad R; Najmabadi H
Arch Iran Med; 2014 Jul; 17(7):471-4. PubMed ID: 24979557
[TBL] [Abstract][Full Text] [Related]
20. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.
Jehee FS; Takamori JT; Medeiros PF; Pordeus AC; Latini FR; Bertola DR; Kim CA; Passos-Bueno MR
Eur J Med Genet; 2011; 54(4):e425-32. PubMed ID: 21457803
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
