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by Fu, F and Li, R and Li, Y and Nie, Z.‐Q and Lei, T and Wang, D and Yang, X and Han, J and Pan, M and Zhen, L and Ou, Y and Li, J and Li, F.‐T and Jing, X and Li, D and Liao, C
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 04/2018, Volume 51, Issue 4, pp. 493 - 502
Journal Article
Experimental and Therapeutic Medicine, ISSN 1792-0981, 2017, Volume 14, Issue 3, pp. 2265 - 2270
Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome,... 
Short stature | Short stature homeobox gene | X-chromosomal structural abnormalities | Turner syndrome | INACTIVATION | MEDICINE, RESEARCH & EXPERIMENTAL | GENE SHOX | MANAGEMENT | GROWTH | ESTROGEN | short stature | GIRLS | short stature homeobox gene | GUIDELINE
Journal Article
Journal of Obstetrics and Gynaecology, ISSN 0144-3615, 04/2019, Volume 39, Issue 3, pp. 328 - 334
Molecular diagnostic investigations, following the identification of foetal abnormalities, are routinely performed using array comparative genomic... 
copy number variation | foetal structural anomaly | Next-generation sequencing | CHROMOSOMAL MICROARRAY | VARIANTS | DATABASE | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY | Index Medicus
Journal Article
Journal Article
GYNECOLOGIE OBSTETRIQUE & FERTILITE, ISSN 1297-9589, 06/2009, Volume 37, Issue 6, pp. 511 - 518
Journal Article
Gynecologie Obstetrique et Fertilite, ISSN 1297-9589, 2009, Volume 37, Issue 6, pp. 511 - 518
Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated... 
Y isochromosome | Ring Y chromosome | AZF microdeletions | Chromosomal mosaicism | Y chromosome | Turner syndrome
Journal Article
by Weng, B-H and Lu, Y-E and Li, X
European review for medical and pharmacological sciences, ISSN 1128-3602, 2013, Volume 17, Issue 19, pp. 2605 - 2608
PURPOSE OF THE STUDY: To explore the misdiagnosis probability of subtle chromosomal structural abnormalities and find proper strategy to improve the accuracy... 
Prenatal diagnosis | PERFORMANCE | Cytogenetics | FISH | External quality assessment | DU-CHAT-SYNDROME | PHARMACOLOGY & PHARMACY | Chromosomal abnormality | AMNIOTIC-FLUID | Pregnancy | Cri-du-Chat Syndrome - diagnosis | Humans | Prenatal Diagnosis | Chromosome Aberrations | Rare Diseases - diagnosis | Female | Karyotype
Journal Article
Genome Medicine, ISSN 1756-994X, 09/2018, Volume 10, Issue 1, pp. 74 - 74
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 04/2018, Volume 51, Issue 4, pp. 463 - 469
Journal Article
Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, 07/2006, Volume 85, Issue 8, pp. 912 - 915
Background. To determine the detection rate of fetal structural abnormalities by a routine 11-14-week ultrasound scan for dating in an unselected pregnant... 
nuchal translucency | malformation | chromosomal aberration | dating | Ultrasound
Journal Article