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Items: 6

1.
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature
Shaoyang Lai, Xueqin Zhang, Ling Feng, Mengzhou He, Shaoshuai Wang
Medicine (Baltimore) 2020 Oct 16; 99(42): e22533. Published online 2020 Oct 16. doi: 10.1097/MD.0000000000022533
PMCID:
PMC7571886
AbstractArticlePDF–639K
2.
A patient with 46,XY/47,XYY karyotype and female phenotype: a case report
Zhi-Hui Liu, Shi-Chao Zhou, Jun-Wen Du, Kun Zhang, Tao Wu
BMC Endocr Disord. 2020; 20: 42. Published online 2020 Mar 24. doi: 10.1186/s12902-020-0523-8
PMCID:
PMC7092595
AbstractArticlePDF–1.2M
3.
Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
J Clin Res Pediatr Endocrinol. 2018 Sep; 10(3): 256–263. Published online 2018 Jul 31. doi: 10.4274/jcrpe.5119
PMCID:
PMC6083464
AbstractArticlePDF–281K
4.
KBG syndrome involving a single-nucleotide duplication in ANKRD11
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon
Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131
PMCID:
PMC5111005
AbstractArticlePDF–2.0M
5.
Phenotypic Characterization of miR-92a−/− Mice Reveals an Important Function of miR-92a in Skeletal Development
Daniela Penzkofer, Angelika Bonauer, Ariane Fischer, Alexander Tups, Ralf P. Brandes, Andreas M. Zeiher, Stefanie Dimmeler
PLoS One. 2014; 9(6): e101153. Published online 2014 Jun 30. doi: 10.1371/journal.pone.0101153
PMCID:
PMC4076267
AbstractArticlePDF–2.4M
6.
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
C Armour, D Bulman, A Hunter
J Med Genet. 2000 Apr; 37(4): 292–296. doi: 10.1136/jmg.37.4.292
PMCID:
PMC1734558
SummaryPDF–200K

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