A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]
, 1993 The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi +31 more
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Amniotic band syndrome and/or limb body wall complex: split or lump
The Application of Clinical Genetics, 2010 Ashutosh HalderDepartment of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, IndiaAbstract: Six cases of amniotic band syndrome/limb body wall complex were studied in respect to clinicopathologic characteristics.
Ashutosh Halder
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Clinical Case ReportsDown syndrome is a risk factor for Hirschsprung's disease. However, the amniotic band sequence does not directly correlate. We present a patient with Down syndrome and associated Hirschsprung's disease, who exhibited findings consistent with amniotic ...
Rosario Hernández‐Ramírez +4 more
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Unique tracheal fluid microRNA signature predicts response to FETO in patients with congenital diaphragmatic hernia [PDF]
, 2015 "Epub ahead of print 2015 Jan 5"OBJECTIVE AND BACKGROUND: Our objective was to determine the fetal in vivo microRNA signature in hypoplastic lungs of human fetuses with severe isolated congenital diaphragmatic hernia (CDH) and changes in tracheal and ...
DeKoninck, Philip +13 more
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Pseudo-monoamniotic Pregnancy: Case Report and Review of Etiologic Considerations [PDF]
, 2015 Pseudomonoamniotic gestations are increasingly recognized through sonographic surveillance of monochorionic twins, though etiologic factors remain undefined.
Martin, Jessica +6 more
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Prenatal diagnosis of morquio disease type A using a simple fluorometric enzyme assay [PDF]
, 1990 A new fluorogenic substrate, 4 methylumbelliferyl B-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than
Diggelen, O.P. (Otto) van +6 more
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Estimating the risk of adverse birth outcomes in pregnant women undergoing non-obstetric surgery using routinely collected NHS data: an observational study [PDF]
, 2016 Background: Previous research suggests that non-obstetric surgery is carried out in 1 – 2% of all pregnancies. However, there is limited evidence quantifying the associated risks.
Aylin, P +6 more
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Annals of Pediatric Cardiology, 2010 The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus.
Balakumar K, Misha K
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Human amniotic membrane as newly identifed source of amniotic fuid pulmonary surfactant [PDF]
, 2017 Pulmonary surfactant (PS) reduces surface tension at the air-liquid interface in the alveolar epithelium of the lung, which is required for breathing and for the pulmonary maturity of the developing foetus.
Castillo-Sánchez, José Carlos +7 more
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Salvage of Necrotic-Appearing Limb after In Utero Endoscopic Lysis of Constriction Bands
American Journal of Perinatology Reports, 2017 We report a case of amniotic band syndrome complicated by constriction bands and marked distal swelling of both lower extremities. Color Doppler interrogation of the right lower extremity revealed complete lack of blood flow below the level of the ...
M. Abdel-Sattar +4 more
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