129 related articles for article (PubMed ID: 31302917)
41. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Lesch KP; Selch S; Renner TJ; Jacob C; Nguyen TT; Hahn T; Romanos M; Walitza S; Shoichet S; Dempfle A; Heine M; Boreatti-Hümmer A; Romanos J; Gross-Lesch S; Zerlaut H; Wultsch T; Heinzel S; Fassnacht M; Fallgatter A; Allolio B; Schäfer H; Warnke A; Reif A; Ropers HH; Ullmann R
Mol Psychiatry; 2011 May; 16(5):491-503. PubMed ID: 20308990
[TBL] [Abstract][Full Text] [Related]
42. [Phenotypic and genotypic analysis of a girl carrying a 2q22.3 microduplication encompassing the MBD5 gene].
He X; Huang Y; Luo S; Cai X; Zeng C; Lin J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):624-627. PubMed ID: 31055822
[TBL] [Abstract][Full Text] [Related]
43. De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
Chen CP; Lin SP; Chern SR; Lee CC; Huang JK; Wang W; Liao YW
Genet Couns; 2004; 15(4):437-42. PubMed ID: 15658619
[TBL] [Abstract][Full Text] [Related]
44. De novo 8p23.1 deletion in a patient with absence epilepsy.
Akcakaya NH; Capan ÖY; Schulz H; Sander T; Caglayan SH; Yapıcı Z
Epileptic Disord; 2017 Jun; 19(2):217-221. PubMed ID: 28533195
[TBL] [Abstract][Full Text] [Related]
45. Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.
Zhu X; Li J; Ru T; Wang Y; Xu Y; Yang Y; Wu X; Cram DS; Hu Y
Prenat Diagn; 2016 Apr; 36(4):321-7. PubMed ID: 26833920
[TBL] [Abstract][Full Text] [Related]
46. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
47. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Di Gregorio E; Gai G; Botta G; Calcia A; Pappi P; Talarico F; Savin E; Ribotta M; Zonta A; Mancini C; Giorgio E; Cavalieri S; Restagno G; Ferrero GB; Viora E; Pasini B; Grosso E; Brusco A; Brussino A
Cytogenet Genome Res; 2015; 147(1):10-6. PubMed ID: 26658296
[TBL] [Abstract][Full Text] [Related]
48. Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.
Ben-Abdallah-Bouhjar I; Mougou-Zerelli S; Hannachi H; Ben-Khelifa H; Soyah N; Labalme A; Sanlaville D; Elghezal H; Saad A
Gene; 2013 Apr; 519(1):135-41. PubMed ID: 23403231
[TBL] [Abstract][Full Text] [Related]
49. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Chen CP; Lin SP; Chen MR; Su JW; Chern SR; Chen YJ; Lee MS; Wang W
Genet Couns; 2012; 23(2):195-200. PubMed ID: 22876577
[TBL] [Abstract][Full Text] [Related]
50. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
Rooryck C; Burgelin I; Stef M; Taine L; Thambo JB; Lacombe D; Arveiler B
Eur J Med Genet; 2008; 51(1):74-80. PubMed ID: 18024240
[TBL] [Abstract][Full Text] [Related]
51. [Chromosome microarray analysis of patients with 18q deletion syndrome].
Feng J; Hao J; Chen Y; Li F; Han J; Li R; Zhang Y; Lei T; Chen F; Guo Q; Liao C; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):203-7. PubMed ID: 27060316
[TBL] [Abstract][Full Text] [Related]
52. Deletion of terminal portion of 6q: report of a case with unusual malformations.
Shen-Schwarz S; Hill LM; Surti U; Marchese S
Am J Med Genet; 1989 Jan; 32(1):81-6. PubMed ID: 2705486
[TBL] [Abstract][Full Text] [Related]
53. Genetic background of congenital conotruncal heart defects--a study of 45 families.
Kwiatkowska J; Wierzba J; Aleszewicz-Baranowska J; Ereciński J
Kardiol Pol; 2007 Jan; 65(1):32-7; discussion 38-9. PubMed ID: 17295158
[TBL] [Abstract][Full Text] [Related]
54. Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.
Shi P; Wang C; Zheng Y; Kong X
BMC Med Genomics; 2021 Mar; 14(1):88. PubMed ID: 33757501
[TBL] [Abstract][Full Text] [Related]
55. Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
Abu-Amero KK; Kondkar AA; Khan AO
Ophthalmic Genet; 2016; 37(1):98-101. PubMed ID: 24911043
[TBL] [Abstract][Full Text] [Related]
56. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
Al Dhaibani MA; Allingham-Hawkins D; El-Hattab AW
BMC Med Genet; 2017 Oct; 18(1):118. PubMed ID: 29061174
[TBL] [Abstract][Full Text] [Related]
57. [Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].
Pan Q; Hu P; Ou J; Jin X; Zhang F; Hu Y; Cheng L; Han L; Ning Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct; 32(5):695-9. PubMed ID: 26418989
[TBL] [Abstract][Full Text] [Related]
58. [Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation].
Li C; Lyu Y; Hou R; Liu C; Li-Ling J; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):462-466. PubMed ID: 32219838
[TBL] [Abstract][Full Text] [Related]
59. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
[TBL] [Abstract][Full Text] [Related]
60. Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies.
Li R; Wan J; Zhang Y; Fu F; Ou Y; Jing X; Li J; Li D; Liao C
Ultrasound Obstet Gynecol; 2016 Jan; 47(1):53-7. PubMed ID: 26033469
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
